The MoPED team translates principles of developmental, molecular and stem cell biology into creative diagnostic and therapeutic approaches to solving the clinical problems arising at the interface of the nervous and endocrine systems. This branch of medicine is known as neuroendocrinology.

The neuroendocrine system includes vital endocrine glands such as the pituitary, thyroid and adrenal glands as well as endocrine islets within glandular or exocrine tissues (e.g. in the pancreas or elsewhere within organs derived from the embryonic endoderm). All neuroendocrine cells share a number of distinctive characteristics in common with neurons. Their hormone release requires signaling adjustments throughout life to maintain internal equilibrium of key functions in humans such as growth, reproduction, lactation, response to stress and metabolism.

Certain kinds of birth defects and tumors affect derivatives of the embryonic stem cell population known as the neural crest and are called congenital neurocristopathies. One of our team's lines of reseach explores the possibility that certain developmental or proliferative neuroendocrine diseases may also be "indirect" neurocristopathies, the result of non-cell-autonomous mechanisms.

Only 10% of patients with pituitary deficiencies have an identified genetic etiology. The treatment of neuroendocrine tumors (NET) remains highly challenging through their diversity, inaccessibility and incomplete knowledge of their etiology and pathophysiology. Understanding the exchanges and effects of paracrine and endocrine signals should provide creative solutions for the many patients affected with this wide array of often individually rare diseases.


The former DIP-NET team (Differentiation and Proliferation of Neuroendocrine Tissues) is grateful for the leadership of Pr. Thierry Brue, who remains an integral member of our new configuration all while continuing to direct the Marseille Rare Disease (MarMaRa) Institute and head the Endocrinology service at the Conception Hospital. We are also pleased to integrate convergent themes from the research group of Dr. Heather Etchevers, who will co-direct the MoPED team with Pr. Barlier as of 2024.

Please read on to learn more about our themes, specific projects, our networks and funders, and scientific production.



The developmental origins of this dispersed system are a little-known common thread underlying many specific pathologies and depend on coordinating signals exchanged between all “germ cell layers”. Cell proliferation and differentiation into hormone-secreting neuroendocrine phenotypes are tightly regulated by central and peripheral nervous system through other hormones, growth factors and cytokines and signal-bearing mesenchymal cells.

Instructions for what do to next are enforced by transcription factors in gene regulatory networks particularly important for the master endocrine organ, the pituitary. Defects in such regulation at any life stage, from embryogenesis to old age, leads to hormonal deficiencies or hypersecretion, which can induce opposing pathologies, like the canonical examples of dwarfism and gigantism.

A wide array of malformation syndromes arise from mutations also found in many adult cancers. Such mutations lead to constant activation of normally temporarily active enzymes in only some cell types and can be lethal, depending on when they occur. The result in survivors is inappropriate growth factor signaling, leading to effects on cell identities and tissue growth. The resulting organism is a mosaic of affected (mutated) and unaffected (non-mutated) cells. Their interactions during development can lead to diseases that appear very different from, but are mechanistically related to and sometimes predispose to, certain cancers.

To increase the rate of identification of genetic causes, we have developed high-throughput genomic analyses, from gene panels using high-throughput sequencing to comparative hybridization (CGH) and whole-exome studies. These strategies are used for both pituitary deficiencies (the international GenHypoPit network) and hereditary NETs (TENGEN network), in collaboration with the AP-HM Molecular Biology Laboratory, directed by Prof. Barlier.

Mouse models used by our group phenocopy (reproduce many aspects of) syndromes found in human fetuses or children by directing the same types of mutations to distinct multipotent neural crest derivatives. This can affect not only their progeny in the skin but also in the heart, the peripheral nervous system, the pituitary or the skull. Characterizing these models and searching for equivalent mutations in relevant patient cohorts should lead to improved diagnoses and new therapeutic approaches for congenital neurocristopathies by repurposing drugs used in targeted chemotherapies.

A major experimental strategy underway is the design and validation of human organoid models from induced pluripotent stem cells (iPS) differentiated into neuroendocrine cell types of interest, such as specific pituitary cells.

To decipher signaling modules involved in therapeutic resistance in neuroendocrine tumors affecting pituitary function, we integrate proteomics data into mathematical models to prioritize signaling modules (in collaboration with the Baudot group). In parallel, we continue our drug screening strategy in collaboration with pharmacological companies Novartis and Inventiva on human primary cultures of tumors provided by neurosurgery and neuropathology departments of the AP-HM hospital network.



Please see the work spearheaded by our most recent M.D./Ph.D., Dr. Thi-Thom Mac, to soon appear as a Reviewed Preprint in eLife, available on bioRxiv. It is entitled, "Modeling corticotroph deficiency with pituitary organoids supports the functional role of NFKB2 in human pituitary differentiation."

Dr. Pauline Romanet, MD PhD, has obtained a young researchers' starting grant (ANR JCJC) from the French National Research Agency in 2023, to develop an ambitious project called MEN1-PLUS on "New pathophysiological approaches to the study of multiple endocrine neoplasias type 1". We will soon be recruiting personnel, in particular a postdoctoral scientist, to further develop this promising theme.

The large and giant congenital melanocytic nevus (CMN) is a visibly conspicuous malformation of the skin, present at birth. It can present as a restricted, stable and benign tumor, or be associated in syndromic form with additional cutaneous, neurological or oncological symptoms.

We study the effects of the molecular signaling pathways shown to be present in CMN in the embryological precursors to pigment cells using multiple systems and cutting edge -omics and imaging techniques:

  • Surgical and pathology specimens from large and giant congenital melanocytic nevi (CMN)
  • Induced pluripotent stem cells from human CMN
  • Comparative transcriptomics in primary cultures of mouse cells from neural crest-specific induction of constitutively active BRAF or NRAS mutations
  • Phenotypic characterization of mouse models with different onset or compartments of BRAF or NRAS mutations during prenatal and postnatal development, in order to understand cell non-autonomous effects in CMN syndrome and related disorders

Somatic mutations in NRAS and BRAF are the major molecular causes of CMN, and are also among the most prevalent drivers of malignant melanoma. Children born with rare and large forms of CMN have a dramatically increased chance of developing melanoma before the age of 30. Our lab is funded by the Horizon Europe program, MELCAYA (Novel health care strategies for melanoma in children, adolescents and young adults), to discover the molecular bases of the progression or intermediate stages between benign nevus and cancer in this emblematic neurocristopathy. We expect to apply the knowledge gained in other RASopathies, diseases due to undue activation of a large family of molecules in the cell that transduce paracrine and endocrine signals to the nucleus to change its behavior over time.

Please come back for more details soon. If only our back-end allowed us to slip the graphical abstract in here...

This national consortium project, supported by a dedicated INSERM transversal program, launched just before the COVID-19 pandemic with the Zaffran group. It entails mapping the specific transcriptomic signatures of each cell in the developing human heart in order to better understand normal and disease-associated physiology throughout life. We are participating in technology development with the GBiM platform and Baudot team as well as contributing unprecedently detailed data on the cellular composition, including rare neuroendocrine cells, of the first-trimester heart as it turns from a primordium into a functional and vital organ. This data contributes to the international Human Cell Atlas effort.



Abellan Lopez, M.  et al. 2023

In vivo efficacy proof of concept of a large-size bioprinted dermo-epidermal substitute for permanent wound coverage

Introduction: An autologous split-thickness skin graft (STSG) is a standard treatment for coverage of full-thickness skin defects. However, this technique has two major drawbacks: the use of general...
Front Bioeng Biotechnol - issue: - volume: 11 - pages: 1217655.

Vergier, J.  et al. 2023

Misconceptions and beliefs around hormone replacement therapy after childhood hematopoietic stem cell transplantation: A qualitative study among women leukemia survivors

PURPOSE: After childhood leukemia and hematopoietic stem cell transplantation, hormone replacement therapy is often required to induce puberty because of premature ovarian insufficiency. Observance of...
PLoS One - issue: 4 - volume: 18 - pages: e0283940.

Castinetti, F.  et al. 2023

HCG-responsive aldosteronoma with transient secretion during pregnancy confirmed through HCG-stimulated adrenal venous sampling

Primary aldosteronism can be regulated by the ectopic expression of G-protein coupled receptors in aldosteronomas or bilateral hyperplasias. We report a rare case of a young woman in whom 2...
Front Endocrinol (Lausanne) - issue: - volume: 14 - pages: 1153374.

Mac, TT.  et al. 2023

Modeling corticotroph deficiency with pituitary organoids supports the functional role of NFKB2 in human pituitary differentiation


eLife - issue: - volume: - pages: .

Störmann, S.  et al. 2023

The socioeconomic burden of acromegaly

Acromegaly is a rare and insidious disease characterized by chronic excess growth hormone, leading to various morphological changes and systemic complications. Despite its low prevalence, acromegaly...
Eur J Endocrinol - issue: 2 - volume: 189 - pages: R1-R10.

Beaufils, M.  et al. 2023

Dysthyroidism during immune checkpoint inhibitors is associated with improved overall survival in adult cancers: data mining of 1385 electronic patient records

BACKGROUND: Dysthyroidism (DT) is a common toxicity of immune checkpoint inhibitors (ICIs) and prior work suggests that dysthyroidism (DT) might be associated with ICI efficacy. PATIENTS AND METHODS:...
J Immunother Cancer - issue: 8 - volume: 11 - pages: e006786.

Kervarrec, T.  et al. 2023

Recurrent PAK2 rearrangements in poroma with folliculo-sebaceous differentiation

AIMS: Poroma is a benign adnexal neoplasm with differentiation towards the upper portion of the sweat gland apparatus. In 2019, Sekine et al. demonstrated recurrent YAP1::MAML2 and YAP1::NUTM1 fusion...
Histopathology - issue: 2 - volume: 83 - pages: 310-319.

Kervarrec, T.  et al. 2023

Digital Papillary Adenocarcinoma in Nonacral Skin: Clinicopathologic and Genetic Characterization of 5 Cases

Digital papillary adenocarcinoma (DPA) is a rare sweat gland neoplasm that has exceptionally been reported outside acral locations. Recently, human papillomavirus 42 was identified as the main...
Am J Surg Pathol - issue: - volume: - pages: .

Kervarrec, T.  et al. 2023

Sweat Gland Tumors Arising on Acral Sites: A Molecular Survey

Recurrent oncogenic drivers have been identified in a variety of sweat gland tumors. Recently, integration of human papillomavirus type 42 (HPV42) has been reported in digital papillary adenocarcinoma...
Am J Surg Pathol - issue: - volume: - pages: .

Feng, X.  et al. 2023

Comprehensive Immune Profiling Unveils a Subset of Leiomyosarcoma with "Hot" Tumor Immune Microenvironment

Purpose: To investigate the immune biomarker in Leiomyosarcoma (LMS), which is rare and recognized as an immune cold cancer showing a poor response rate (<10%) to immune checkpoint inhibitors (ICIs)....
Cancers (Basel) - issue: 14 - volume: 15 - pages: 3705.

Sahakian, N.  et al. 2023

Pituitary tumor prognostication: WHO is really the best?


Eur J Endocrinol - issue: 1 - volume: 189 - pages: R1-R3.

Sahakian, N.  et al. 2023

Letter to the Editor: The Somatic RET M918T Variant May Modify the Natural History of Germline RET L790F MEN2-Related Medullary Thyroid Carcinoma


Thyroid - issue: - volume: - pages: .

Legrand, M.  et al. 2023

SSTR2A is a diagnostic marker of trichogerminoma


J Eur Acad Dermatol Venereol - issue: - volume: - pages: .

Lutaud, R.  et al. 2023

Motivational interviewing for the management of child and adolescent obesity: a systematic literature review

BACKGROUND: Among children or adolescents suffering from obesity, 40-70,5% will remain obese as adults according to their paediatric BMI. The recommended management involves changes in their...
BJGP Open - issue: - volume: - pages: BJGPO.2022.0145.

Le Collen, L.  et al. 2023

Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use

PURPOSE: Recessive deficiency of proopiomelanocortin (POMC) causes childhood-onset severe obesity. Cases can now benefit from the melanocortin 4 receptor agonist setmelanotide. Furthermore, a phase 3...
Genet Med - issue: 7 - volume: 25 - pages: 100857.

Delteil, C.  et al. 2023

[Peripancreatic proliferation in children, postmortem case]


Ann Pathol - issue: 4 - volume: 43 - pages: 348-351.

Gauche, L.  et al. 2023

Assessment of a new home-based care pathway for children newly diagnosed with type 1 diabetes

AIM: To compare the outcomes of home-based and conventional hospital-based care for children newly diagnosed with type 1 diabetes mellitus. METHODS: A descriptive study was conducted of all children...
Prim Care Diabetes - issue: - volume: - pages: S1751-9918(23)00110-9.

Mac, TT.  et al. 2023

Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports

Deficient anterior pituitary with common variable immune deficiency (DAVID) syndrome is a rare condition characterized by adrenocorticotropic hormone (ACTH) deficiency and primary...
J Neuroendocrinol - issue: 6 - volume: 35 - pages: e13287.

Trecourt, A.  et al. 2023

CREB fusion-associated epithelioid mesenchymal neoplasms of the female adnexa: three cases documenting a novel location of an emerging entity and further highlighting an ambiguous misleading immunophenotype

EWSR1/FUS-CREB-rearranged mesenchymal neoplasms are an emerging heterogeneous group of soft tissue tumors that encompasses low-grade lesions (angiomatoid fibrous histiocytoma/AFH) and a group of...
Virchows Arch - issue: 6 - volume: 482 - pages: 967-974.

Paladino, NC.  et al. 2023

The pre-thyroidectomy surgeon's checklist. Recommendations of the AFC>E (Association francophone de chirurgie endocrinienne), with the SFE (Société française d'endocrinologie) and the SFMN (Société française de médecine nucléaire)

During the patient interview, signs of compression or invasion are sought out: dyspnea, dysphagia, dysphonia. The circumstances of discovery of the thyroid pathology are indicated. The surgeon must be...
J Visc Surg - issue: 3S - volume: 160 - pages: S65-S68.

Legrand, M.  et al. 2023

Superficial spindle cell tumour with TNC::PDGFD fusion is a distinct entity from dermatofibrosarcoma protuberans


Pathology - issue: 4 - volume: 55 - pages: 562-564.

Dormoy, A.  et al. 2023

Efficacy and Safety of Osilodrostat in Paraneoplastic Cushing Syndrome: A Real-World Multicenter Study in France

CONTEXT: Prospective studies have demonstrated the efficacy of osilodrostat in Cushing disease. No study has evaluated osilodrostat in a series of patients with paraneoplastic Cushing syndrome/ectopic...
J Clin Endocrinol Metab - issue: 6 - volume: 108 - pages: 1475-1487.

Cuny, T.  et al. 2023

Imaging of multiple endocrine neoplasia type 1 patients in the era of somatostatin receptor positron emission tomography-computed tomography: "no place to hide for neuroendocrine tumours"


Eur J Endocrinol - issue: 5 - volume: 188 - pages: C9-C10.

Mohammedi, K.  et al. 2023

Evidence of persistent mild hypercortisolism in patients medically treated for Cushing's disease: the Haircush study

CONTEXT: Cortisol-lowering drugs may not restore a normal cortisol secretion in Cushing's disease (CD). OBJECTIVE: Assess the long-term cortisol exposure in medically treated CD patients using...
J Clin Endocrinol Metab - issue: - volume: - pages: dgad251.

Raymond, J.  et al. 2023

Endovascular treatment of brain arteriovenous malformations: clinical outcomes of patients included in the registry of a pragmatic randomized trial

OBJECTIVE: The role of endovascular treatment in the management of patients with brain arteriovenous malformations (AVMs) remains uncertain. AVM embolization can be offered as stand-alone curative...
J Neurosurg - issue: 5 - volume: 138 - pages: 1393-1402.

Albarel, F.  et al. 2023

Pituitary and adrenal disorders induced by immune checkpoint inhibitors

Over the past decade, the development of ICI (immune checkpoint inhibitors) has constituted a revolution in the treatment of many cancers, but with a specific toxicity profile including endocrine...
Ann Endocrinol (Paris) - issue: 3 - volume: 84 - pages: 339-345.

Taïeb, D.  et al. 2023

Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants

Patients with germline SDHD pathogenic variants (encoding succinate dehydrogenase subunit D; ie, paraganglioma 1 syndrome) are predominantly affected by head and neck paragangliomas, which, in almost...
Lancet Diabetes Endocrinol - issue: 5 - volume: 11 - pages: 345-361.

Kervarrec, T.  et al. 2023

Distinct regulations driving YAP1 expression loss in poroma, porocarcinoma and RB1-deficient skin carcinoma

AIMS: Recently, YAP1 fusion genes have been demonstrated in eccrine poroma and porocarcinoma, and the diagnostic use of YAP1 immunohistochemistry has been highlighted in this setting. In other organs,...
Histopathology - issue: 6 - volume: 82 - pages: 885-898.

Amodru, V.  et al. 2023

Cushing's syndrome in the elderly: data from the European Registry on Cushing's syndrome

OBJECTIVE: To evaluate whether age-related differences exist in clinical characteristics, diagnostic approach, and management strategies in patients with Cushing's syndrome (CS) included in the...
Eur J Endocrinol - issue: 4 - volume: 188 - pages: 395-406.

Davalos, V.  et al. 2023

An epigenetic switch controls an alternative NR2F2 isoform that unleashes a metastatic program in melanoma

Metastatic melanoma develops once transformed melanocytic cells begin to de-differentiate into migratory and invasive melanoma cells with neural crest cell (NCC)-like and epithelial-to-mesenchymal...
Nat Commun - issue: 1 - volume: 14 - pages: 1867.

Amelot, A.  et al. 2023

Natural Course and Prognosis of Primary Spinal Glioblastoma: A Nationwide Study

BACKGROUND AND OBJECTIVES: Primary spinal glioblastoma (PsGBM) is extremely rare. The dramatic neurologic deterioration and unresectability of PsGBM makes it a particularly disabling malignant...
Neurology - issue: 14 - volume: 100 - pages: e1497-e1509.

Boissonneau, S.  et al. 2023

Postoperative complications in cranial and spine neurosurgery: a prospective observational study

BACKGROUND: Postoperative complications do occur in all neurosurgical departments, but the way they are defined, and their true incidence vary a lot. The aim of the present study was to objectively...
J Neurosurg Sci - issue: 2 - volume: 67 - pages: 157-167.

Choucha, A.  et al. 2023

Meningoencephalitis with refractory intracranial hypertension: consider decompressive craniectomy

The benefits of decompressive craniectomy (DC) have been demonstrated in malignant ischemic stroke and traumatic brain injuries with refractory intracranial hypertension (ICH) by randomized controlled...
J Neurosurg Sci - issue: 2 - volume: 67 - pages: 248-256.

Darsaut, TE.  et al. 2023

Surgical treatment of brain arteriovenous malformations: clinical outcomes of patients included in the registry of a pragmatic randomized trial

OBJECTIVE: The Treatment of Brain Arteriovenous Malformations Study (TOBAS) is a pragmatic study that includes 2 randomized trials and registries of treated or conservatively managed patients. The...
J Neurosurg - issue: 4 - volume: 138 - pages: 891-899.

Castinetti, F.  et al. 2023

Osilodrostat in Cushing's disease: The risk of delayed adrenal insufficiency should be carefully monitored

Antisecretory data shows a highly effective and prolonged blockade of cortisol secretion with osilodrostat. The drawback is the occurrence of adrenal insufficiency (AI) in roughly a quarter of treated...
Clin Endocrinol (Oxf) - issue: 4 - volume: 98 - pages: 629-630.

Fodil-Cherif, S.  et al. 2023

Updates in neuroendocrine neoplasms: From mechanisms to the clinic

Scientific advances constantly improve our understanding of the mechanisms underlying tumorigenesis, allowing us now to analyze cancer in a more precise manner and to identify at an earlier stage the...
Ann Endocrinol (Paris) - issue: 2 - volume: 84 - pages: 291-297.

Avinens, V.  et al. 2023

Radiological analysis of minimally invasive treatment of type A thoracolumbar fractures based on a series of 135 fractures

INTRODUCTION: Although the reduction of traumatic fractures of the thoracolumbar spine is of good quality during conventional so-called open procedures, the alternative minimally invasive approach...
Orthop Traumatol Surg Res - issue: 2 - volume: 109 - pages: 103486.

Levaillant, L.  et al. 2023

The Severity of Congenital Hypothyroidism with Gland-in-situ Predicts Molecular Yield by Targeted NGS

INTRODUCTION: Congenital hypothyroidism with gland-in-situ (CH-GIS) is usually attributed to mutations in the genes involved in thyroid hormone production. The diagnostic yield of targeted...
J Clin Endocrinol Metab - issue: - volume: - pages: dgad119.

Bando, H.  et al. 2023

Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man

Congenital hypopituitarism is a genetically heterogeneous condition that is part of a spectrum disorder that can include holoprosencephaly. Heterozygous mutations in SIX3 cause variable...
Hum Mol Genet - issue: 3 - volume: 32 - pages: 367-385.

Barbieux, S.  et al. 2023

Genetic evidence of a sarcomatoid transformation in Merkel cell carcinoma


J Eur Acad Dermatol Venereol - issue: 1 - volume: 37 - pages: e45-e48.

Fourneaux, R.  et al. 2022

Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family.

INTRODUCTION: Congenital central hypothyroidism (CCH) is a rare disorder that can be caused by X-linked mutations in the immunoglobulin superfamily member 1 (IGSF1) gene. Here, we describe four...
Horm Res Paediatr - issue: 3 - volume: 95 - pages: 296-303.

Rodier, C.  et al. 2022

Metoclopramide Test in Hyperprolactinemic Women With Polycystic Ovarian Syndrome: Old Wine Into New Bottles?

INTRODUCTION: Polycystic ovarian syndrome (PCOS) is the most frequent etiology of anovulation, hyperandrogenism and infertility in women. Its pathophysiology remains poorly elucidated....
Front Endocrinol (Lausanne) - issue: - volume: 13 - pages: 832361.

Charnay, T.  et al. 2022

A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin

Isolated ACTH deficiency (IAD) is a life-threatening condition, particularly in the neonatal period, while a main consequence of undiagnosed isolated ACTH deficiency in survivors is cognitive...
Front Endocrinol (Lausanne) - issue: - volume: 13 - pages: 1080649.

Davalos, V.  et al. 2022

An epigenetic switch controls the expression of an alternative NR2F2 isoform that unleashes a pro-metastatic program in melanoma

Metastatic melanoma develops once transformed melanocytic cells begin to de-differentiate into migratory and invasive melanoma cells with neural crest cell (NCC)-like and epithelial-to mesenchymal...
- issue: - volume: - pages: forthcoming.

Fourneaux, R.  et al. 2022

IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.

DESIGN: Thyroid-stimulating hormone deficiency (TSHD) is a rare disease. It may be isolated, secondary to abnormalities of genes involved in TSH biosynthesis, or associated with other pituitary...
Eur J Endocrinol - issue: 6 - volume: 187 - pages: 787-795.

Valassi, E.  et al. 2022

Corticotroph tumor progression after bilateral adrenalectomy: data from ERCUSYN.

Corticotroph tumor progression after bilateral adrenalectomy/Nelson's syndrome (CTP-BADX/NS) is a severe complication of bilateral adrenalectomy (BADX). The aim of our study was to investigate the...
Endocr Relat Cancer - issue: 12 - volume: 29 - pages: 681-691.

Husebye, ES.  et al. 2022

Endocrine-related adverse conditions in patients receiving immune checkpoint inhibition: an ESE clinical practice guideline.

Immune checkpoint inhibitors (ICI) have revolutionized cancer treatment but are associated with significant autoimmune endocrinopathies that pose both diagnostic and treatment challenges. The aim of...
Eur J Endocrinol - issue: 6 - volume: 187 - pages: G1-G21.

Lagarde, A.  et al. 2022

Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms.

PURPOSE: Mosaicism is a feature of several inherited tumor syndromes. Only a few cases of mosaicism have been described in multiple endocrine neoplasia type 1 (MEN1). Next-generation sequencing (NGS)...
Endocr Connect - issue: 11 - volume: 11 - pages: .

Ilie, MD.  et al. 2022

Real-life efficacy and predictors of response to immunotherapy in pituitary tumors: a cohort study.

OBJECTIVE: After temozolomide failure, no evidence-based treatment is available for pituitary carcinomas (PCs) and aggressive pituitary tumors (APTs). To date, only 12 cases treated with...
Eur J Endocrinol - issue: 5 - volume: 187 - pages: 685-696.

Fallo, F.  et al. 2022

Diagnosis and management of hypertension in patients with Cushing's syndrome: a position statement and consensus of the Working Group on Endocrine Hypertension of the European Society of Hypertension.

Endogenous/exogenous Cushing's syndrome is characterized by a cluster of systemic manifestations of hypercortisolism, which cause increased cardiovascular risk. Its biological basis is glucocorticoid...
J Hypertens - issue: 11 - volume: 40 - pages: 2085-2101.

Marechal, E.  et al. 2022

Multiple congenital malformations arise from somatic mosaicism for constitutively active Pik3ca signaling

Abstract Recurrent missense mutations of the PIK3CA oncogene are among the most frequent drivers of human cancers. These often lead to constitutive...
Front Cell Dev Biol - issue: - volume: 10 - pages: 1013001.

Picard, C.  et al. 2022

Identification of a novel translocation producing an in-frame fusion of TAF15 and ETV4 in a case of extraosseous Ewing sarcoma revealed in the prenatal period.

Ewing sarcoma (ES) is a highly malignant round cell sarcoma, characterized by gene fusion involving FET (FUS, EWSR1, TAF15) and ETS family genes, respectively. The involvement of the EWSR1 gene has...
Virchows Arch - issue: 4 - volume: 481 - pages: 665-669.

Sahakian, N.  et al. 2022

Real-life clinical impact of a five-tiered classification of pituitary tumors.

INTRODUCTION: Usually benigns, pituitary tumors (PT) can be invasive and aggressive with propensity to progress and/or recur. Trouillas's clinicopathological classification attempts to predict the...
Eur J Endocrinol - issue: - volume: - pages: EJE-22-0812.

Jensen, LR.  et al. 2022

Somatostatin analogues in treatment-refractory meningioma: a systematic review with meta-analysis of individual patient data.

Treatment-refractory meningiomas have a dismal prognosis and limited treatment options. Meningiomas express high-densities of somatostatin receptors (SSTR), thus potentially susceptible to...
Neurosurg Rev - issue: 5 - volume: 45 - pages: 3067-3081.

Castinetti, F.  et al. 2022

Cushing's disease: role of preoperative and primary medical therapy.

Transsphenoidal surgery is the first-line treatment for Cushing's disease. However, some situations may require the use of a primary medical treatment, such as in patients with severe...
Pituitary - issue: 5 - volume: 25 - pages: 737-739.

Goren, S.  et al. 2022

Diagnostic Rechallenge with (18)F-FCH PET/CT Often Allows Minimally Invasive Parathyroidectomy While Maintaining Exceptional Cure Rates.

BACKGROUND: Minimally invasive parathyroidectomy (MIP) has gained acceptance as the preferred surgical procedure for management of primary hyperparathyroidism (pHPT). Appropriate selection of...
World J Surg - issue: 10 - volume: 46 - pages: 2409-2415.

Lagarde, A.  et al. 2022

Early Detection of Relapse by ctDNA Sequencing in a Patient with Metastatic Thymic Tumor and MEN1 Mosaicism.

CONTEXT: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by inactivating mutations in the MEN1 gene. In the literature, few cases of MEN1 have been reported because...
J Clin Endocrinol Metab - issue: 10 - volume: 107 - pages: e4154-e4158.

Ilie, MD.  et al. 2022

Predictive factors of somatostatin receptor ligand response in acromegaly - a prospective study.

CONTEXT: Somatostatin receptor ligands (SRLs) are the cornerstone medical treatments for acromegaly, however many patients remain unresponsive to SRLs. Well-established predictive markers of response...
J Clin Endocrinol Metab - issue: - volume: - pages: dgac512.

Castinetti, F.  et al. 2022

IS DESMOPRESSIN USEFUL IN THE EVALUATION OF CUSHING'S SYNDROME?

The desmopressin test was first described 30 years ago. Based on the differential secretagogue properties of desmopressin on ACTH release between normal and corticotroph tumor cells, this test was...
J Clin Endocrinol Metab - issue: - volume: - pages: dgac533.

Mondielli, G.  et al. 2022

Co-Targeting MAP Kinase and Pi3K-Akt-mTOR Pathways in Meningioma: Preclinical Study of Alpelisib and Trametinib.

Recurrent or high-grade meningiomas are an unmet medical need. Recently, we demonstrated that targeting mTOR by everolimus was relevant both in vitro and in humans. However, everolimus induces an AKT...
Cancers (Basel) - issue: 18 - volume: 14 - pages: .

Darsaut, TE.  et al. 2022

Surgical treatment of brain arteriovenous malformations: clinical outcomes of patients included in the registry of a pragmatic randomized trial.

OBJECTIVE: The Treatment of Brain Arteriovenous Malformations Study (TOBAS) is a pragmatic study that includes 2 randomized trials and registries of treated or conservatively managed patients. The...
J Neurosurg - issue: - volume: - pages: 1-9.

Pivonello, R.  et al. 2022

Levoketoconazole in the treatment of patients with endogenous Cushing's syndrome: a double-blind, placebo-controlled, randomized withdrawal study (LOGICS).

PURPOSE: The efficacy of levoketoconazole for endogenous Cushing's syndrome was demonstrated in a phase 3, open-label study (SONICS). This study (LOGICS) evaluated drug-specificity of cortisol...
Pituitary - issue: - volume: - pages: .

Albarel, F.  et al. 2022

Preoperative Medical Treatment for Patients With Acromegaly: Yes or No?

Transsphenoidal surgery is the first-line treatment for acromegaly. However, several factors can modify surgical remission rates, such as the initial hormone levels, the size and invasiveness of the...
J Endocr Soc - issue: 9 - volume: 6 - pages: bvac114.

Bando, H.  et al. 2022

Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man.

Congenital hypopituitarism is a genetically heterogeneous condition that is part of a spectrum disorder that can include holoprosencephaly. Heterozygous mutations in SIX3 cause variable...
Hum Mol Genet - issue: - volume: - pages: ddac192.

Cuny, T.  et al. 2022

The Challenging Management of Craniopharyngiomas in Adults: Time for a Reappraisal?

Craniopharyngiomas (CPs) are rare tumors of the skull base, developing near the pituitary gland and hypothalamus and responsible for severe hormonal deficiencies and an overall increase in mortality...
Cancers (Basel) - issue: 15 - volume: 14 - pages: .

Salgues, B.  et al. 2022

Somatostatin Receptor Theranostics for Refractory Meningiomas.

Somatostatin receptor (SSTR)-targeted peptide receptor radionuclide therapy (PRRT) represents a promising approach for treatment-refractory meningiomas progressing after surgery and radiotherapy. The...
Curr Oncol - issue: 8 - volume: 29 - pages: 5550-5565.

Castinetti, F.  et al. 2022

Medical management of Cushing's disease: When and how?

Transsphenoidal surgery is the first-line treatment of Cushing's disease. However, medical treatment can be given in a high proportion of patients with this rare condition. This is especially the...
J Neuroendocrinol - issue: 8 - volume: 34 - pages: e13120.

de la Fouchardiere, A.  et al. 2022

Attempting to Solve the Pigmented Epithelioid Melanocytoma (PEM) Conundrum: PRKAR1A Inactivation Can Occur in Different Genetic Backgrounds (Common, Blue, and Spitz Subgroups) With Variation in Their Clinicopathologic Characteristics.

Pigmented epithelioid melanocytoma is a rare cutaneous melanocytic proliferation considered high-grade melanocytoma in the 2018 WHO Classification of Skin Tumors. Little has been reported about the...
Am J Surg Pathol - issue: 8 - volume: 46 - pages: 1106-1115.

Ben Aim, L.  et al. 2022

International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.

BACKGROUND: SDHB is one of the major genes predisposing to paraganglioma/pheochromocytoma (PPGL). Identifying pathogenic SDHB variants in patients with PPGL is essential to the management of patients...
J Med Genet - issue: 8 - volume: 59 - pages: 785-792.

Raverot, V.  et al. 2022

Prolactin immunoassay: does the high-dose hook effect still exist?

PURPOSE: Measurement of prolactin in clinical laboratories is an important component in the management of patients with pituitary adenoma. Prolactin measurement is known to be sensitive to the...
Pituitary - issue: 4 - volume: 25 - pages: 653-657.

Cuny, T.  et al. 2022

Reciprocal Interactions between Fibroblast and Pancreatic Neuroendocrine Tumor Cells: Putative Impact of the Tumor Microenvironment.

INTRODUCTION: Pancreatic neuroendocrine neoplasms (PNENs) present with a fibrotic stroma that constitutes the tumor microenvironment (TME). The role played by stromal fibroblasts in the growth of...
Cancers (Basel) - issue: 14 - volume: 14 - pages: .

Potorac, I.  et al. 2022

Pituitary MRI Features in Acromegaly Resulting From Ectopic GHRH Secretion From a Neuroendocrine Tumor: Analysis of 30 Cases.

CONTEXT: Ectopic acromegaly is a consequence of rare neuroendocrine tumors (NETs) that secrete GHRH. This abnormal GHRH secretion drives GH and IGF-1 excess, with a clinical presentation similar to...
J Clin Endocrinol Metab - issue: 8 - volume: 107 - pages: e3313-e3320.

Laville, D.  et al. 2022

A subset of lung adenofibromas are morphological variants of solitary fibrous tumour.


Histopathology - issue: 1 - volume: 81 - pages: 133-137.

Brahmi, M.  et al. 2022

CIC-DUX4 sarcomas.

PURPOSE OF REVIEW: CIC-DUX4 sarcoma (CDS) is a high-grade undifferentiated round cells sarcoma that belongs to the undifferentiated round cell sarcomas family. It represents less than one percent of...
Curr Opin Oncol - issue: 4 - volume: 34 - pages: 342-347.

Castinetti, F.  et al. 2022

Impact of Cushing's syndrome on fertility and pregnancy.

Cushing's syndrome is defined by an endogenous or exogenous hypercortisolism. Increased cortisol, as well as increased androgens will have a negative impact on the pulsatile secretion of GnRH, thus...
Ann Endocrinol (Paris) - issue: 3 - volume: 83 - pages: 188-190.

Macagno, N.  et al. 2022

Wholistic approach: Transcriptomic analysis and beyond using archival material for molecular diagnosis.

Many neoplasms remain unclassified after histopathological examination, which requires further molecular analysis. To this regard, mesenchymal neoplasms are particularly challenging due to the...
Genes Chromosomes Cancer - issue: 6 - volume: 61 - pages: 382-393.

Salvatori, R.  et al. 2022

Patient-reported outcomes in patients with acromegaly treated with pegvisomant in the ACROSTUDY extension: A real-world experience.

PURPOSE: To report the effects of pegvisomant (PEGV) treatment on patient-reported outcomes in acromegaly patients. METHODS: We conducted an extension study of an open-label, multinational,...
Pituitary - issue: 3 - volume: 25 - pages: 420-432.

Fleseriu, M.  et al. 2022

Osilodrostat for the treatment of Cushing's disease: efficacy, stability, and persistence - Authors' reply.


Lancet Diabetes Endocrinol - issue: 6 - volume: 10 - pages: 385-387.

Coppin, L.  et al. 2022

Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?

MEN1 is an autosomal dominant hereditary syndrome characterized by several endocrine tumors, in most cases affecting the parathyroid glands, pancreas, and anterior pituitary. It is the result of...
Eur J Endocrinol - issue: 1 - volume: 187 - pages: K1-K6.

Cuny, T.  et al. 2022

Letter to the Editor From Cuny et al: "Correlation of Preoperative Imaging Findings and Parathyroidectomy Outcomes Support NICE 2019 Guidance".


J Clin Endocrinol Metab - issue: 6 - volume: 107 - pages: e2642-e2643.

Chanez, B.  et al. 2022

Genomic analysis of paired IDHwt glioblastomas reveals recurrent alterations of MPDZ at relapse after radiotherapy and chemotherapy.

PURPOSE: We aimed to identify genomic drivers of glioblastoma inevitable recurrence. METHODS: Ten pairs of initial and recurrent frozen IDHwt glioblastoma samples were screened by CGH Array. Next...
J Neurol Sci - issue: - volume: 436 - pages: 120207.

Mennetrey, C.  et al. 2022

Value of Somatostatin Receptor PET/CT in Patients With MEN1 at Various Stages of Their Disease.

CONTEXT: Despite the growing evidence of the clinical value of somatostatin receptor (SSTR) positron emission tomography (PET) in the evaluation of neuroendocrine tumors (NETs), its role remains to...
J Clin Endocrinol Metab - issue: 5 - volume: 107 - pages: e2056-e2064.

Cointe, S.  et al. 2022

Granulocyte microvesicles with a high plasmin generation capacity promote clot lysis and improve outcome in septic shock.

Microvesicles (MVs) have previously been shown to exert profibrinolytic capacity, which is increased in patients with septic shock (SS) with a favorable outcome. We, therefore, hypothesized that the...
Blood - issue: 15 - volume: 139 - pages: 2377-2391.

Tabarin, A.  et al. 2022

Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) on diagnosis of Cushing's syndrome.

Cushing's syndrome is defined by prolonged exposure to glucocorticoids, leading to excess morbidity and mortality. Diagnosis of this rare pathology is difficult due to the low specificity of the...
Ann Endocrinol (Paris) - issue: 2 - volume: 83 - pages: 119-141.

Bouvier, C.  et al. 2022

[Soft tissue tumours with FN1 (Fibronectin 1) fusion gene].

Translocations involving FN1 gene have been described in several tumours, which share the presence of a cartilaginous matrix with or without calcifications and a good prognosis. They encompass: soft...
Ann Pathol - issue: 3 - volume: 42 - pages: 242-248.

Rouen, A.  et al. 2022

Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families.

OBJECTIVE: To study the diagnostic yield, including variants in genes yet to be incriminated, of whole exome sequencing (WES) in familial cases of premature ovarian insufficiency (POI). DESIGN:...
Fertil Steril - issue: 4 - volume: 117 - pages: 843-853.

Aouchiche, K.  et al. 2022

Teriparatide administration by the Omnipod pump: preliminary experience from two cases with refractory hypoparathyroidism.

CONTEXT: Hypoparathyroidism (hypoPTH) in adults is mainly due to total thyroidectomy. Conventional therapies (calcium, active vitamin D) can fail to normalize calcemia, expose the patient to...
Endocrine - issue: 1 - volume: 76 - pages: 179-188.

Castinetti, F.  et al. 2022

Controversies about the systematic preoperative pharmacological treatment before pheochromocytoma or paraganglioma surgery.

The question of systematic use of a pharmacological treatment before surgery in patients diagnosed with pheochromocytoma and paraganglioma (PPGL) remains highly controversial. While recent guidelines...
Eur J Endocrinol - issue: 5 - volume: 186 - pages: D17-D24.

Molines, E.  et al. 2022

[BRAF mutation evolution in melanoma: Myth or reality?].

Knowledge of the BRAF mutational status has become essential for melanoma therapeutic management. B-Raf inhibitors are associated with significant overall survival in patients with BRAFV600-mutated...
Ann Pathol - issue: 2 - volume: 42 - pages: 113-118.

Sahakian, N.  et al. 2022

Current and Emerging Medical Therapies in Pituitary Tumors.

Pituitary tumors (PT) represent in, the majority of cases, benign tumors for which surgical treatment still remains, except for prolactin-secreting PT, the first-line therapeutic option. Nonetheless,...
J Clin Med - issue: 4 - volume: 11 - pages: .

Lasbleiz, A.  et al. 2022

Familial hypocalciuric hypercalcemia: the challenge of diagnosis.


Endocrine - issue: 2 - volume: 75 - pages: 646-649.

d'Artigues, J.  et al. 2022

Fully endoscopic endonasal approach for the treatment of intrasellar arachnoid cysts.

PURPOSE: To report our experience of endoscopic endonasal obliteration of symptomatic sellar arachnoid cyst (SAC). METHODS: From 2002 to 2019, we retrospectively reported the data of 17 cases of SAC...
Pituitary - issue: 1 - volume: 25 - pages: 191-200.

Gaudy-Marqueste, C.  et al. 2022

Molecular characterization of fast-growing melanomas.

BACKGROUND: The rate of growth of primary melanoma is a robust predictor of aggressiveness, but the mutational profile of fast-growing melanomas (FGMM) and the potential to stratify patients at high...
J Am Acad Dermatol - issue: 2 - volume: 86 - pages: 312-321.

Wilmerding, A.  et al. 2022

Sustained experimental activation of FGF8/ERK in the developing chicken spinal cord models early events in ERK-mediated tumorigenesis

The MAPK/ERK pathway regulates a variety of physiological cellular functions, including cell proliferation and survival. It is abnormally activated in many types of human cancers in response to driver...
Neoplasia - issue: 2 - volume: 24 - pages: 120-132.

Macagno, N.  et al. 2022

Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors.

Cutaneous sweat gland tumors are a subset of adnexal neoplasms that derive or differentiate into the sweat apparatus. Their great diversity, rarity, and complex terminology make their pathological...
Cancers (Basel) - issue: 3 - volume: 14 - pages: .

Soghomonian, A.  et al. 2022

Letter to the Editor from Soghomonian et al.: "Epicardial and Pericardial Adiposity Without Myocardial Steatosis in Cushing Syndrome".


J Clin Endocrinol Metab - issue: 1 - volume: 107 - pages: e434-e435.

Haniffa, M.  et al. 2021

Human Developmental Cell Atlas: milestones achieved and the roadmap ahead

The Human Developmental Cell Atlas (HDCA), as part of the Human Cell Atlas, aims to generate a comprehensive reference map of cells during development. This detailed study of development will be...
- issue: - volume: - pages: in review.

Etchevers, HC.  et al. 2021

Pericyte ontogeny: the use of chimeras to track a cell lineage of diverse germ line origins

The goal of lineage tracing is to understand body formation over time by discovering which cells are the progeny of a specific, identified, ancestral progenitor. Subsidiary questions include...
Methods Mol Biol - issue: - volume: 2235 - pages: 61-87.

Brue, T.  et al. 2021

Cost-Utility of Acromegaly Pharmacological Treatments in a French Context.

OBJECTIVE: Efficacy of pharmacological treatments for acromegaly has been assessed in many clinical or real-world studies but no study was interested in economics evaluation of these treatments in...
Front Endocrinol (Lausanne) - issue: - volume: 12 - pages: 745843.

Molines, E.  et al. 2021

[BRAF mutation evolution in melanoma: Myth or reality?].

Knowledge of the BRAF mutational status has become essential for melanoma therapeutic management. B-Raf inhibitors are associated with significant overall survival in patients with BRAFV600-mutated...
Ann Pathol - issue: - volume: - pages: .

Amodru, V.  et al. 2021

Synergistic cortisol suppression by ketoconazole-osilodrostat combination therapy.

SUMMARY: Here, we describe a case of a patient presenting with adrenocorticotrophic hormone-independent Cushing's syndrome in a context of primary bilateral macronodular adrenocortical hyperplasia....
Endocrinol Diabetes Metab Case Rep - issue: - volume: 2021 - pages: .

Fleseriu, M.  et al. 2021

Consensus on diagnosis and management of Cushing's disease: a guideline update.

Cushing's disease requires accurate diagnosis, careful treatment selection, and long-term management to optimise patient outcomes. The Pituitary Society convened a consensus workshop comprising more...
Lancet Diabetes Endocrinol - issue: 12 - volume: 9 - pages: 847-875.

Barraud, S.  et al. 2021

Pegvisomant treatment in acromegaly in clinical practice: Final results of the French ACROSTUDY (312 patients).

OBJECTIVE: We report the final analysis of the French ACROSTUDY, using data revised and enriched since the 2013 interim analysis. Our objective was to validate the use of pegvisomant (PEGV) in the...
Ann Endocrinol (Paris) - issue: 6 - volume: 82 - pages: 582-589.

Castinetti, F.  et al. 2021

Lack of delayed neurocognitive side effects of Gamma Knife radiosurgery in acromegaly: the Later-Ac study.

INTRODUCTION: Persistent growth hormone hypersecretion can be observed in roughly 50% of patients operated for somatotroph adenomas, requiring additional treatments. Despite its proven antisecretory...
Eur J Endocrinol - issue: 1 - volume: 186 - pages: 37-44.

Le Bras, M.  et al. 2021

Pituitary adenoma in patients with multiple endocrine neoplasia type 1: a cohort study.

OBJECTIVE: Pituitary adenoma (PA) is one of the three major components of multiple endocrine neoplasia type 1 (MEN1). Recent studies have suggested that MEN1-associated PAs are less aggressive than...
Eur J Endocrinol - issue: 6 - volume: 185 - pages: 863-873.

Brue, T.  et al. 2021

Novel mechanism of pituitary hormone deficiency: genetic variants shift splicing to produce a dominant negative transcription factor isoform.

Recent studies have shown a novel mechanism of combined pituitary hormone deficiency associated with mutations in POU1F1, altering the balance of alternative-splicing, which results in...
Eur J Endocrinol - issue: 6 - volume: 185 - pages: C19-C25.

Raverot, G.  et al. 2021

Aggressive pituitary tumours and pituitary carcinomas.

Although usually benign, anterior pituitary tumours occasionally exhibit aggressive behaviour, with invasion of surrounding tissues, rapid growth, resistance to conventional treatments and multiple...
Nat Rev Endocrinol - issue: 11 - volume: 17 - pages: 671-684.

Kervarrec, T.  et al. 2021

Reply to: Expanding the Spectrum of Primary Cutaneous Carcinoma With BRD3-NUTM1 Fusion.


Am J Surg Pathol - issue: 11 - volume: 45 - pages: 1584-1586.

Graillon, T.  et al. 2021

Meningiomas in patients with long-term exposition to progestins: Characteristics and outcome.

OBJECTIVE: The aim of this study was to describe progestin-associated meningiomas' characteristics, outcome and management. MATERIAL AND METHODS: We included 53 patients operated on and/or followed...
Neurochirurgie - issue: 6 - volume: 67 - pages: 556-563.

Fledderus, AC.  et al. 2021

Domains and outcomes of the core outcome set of congenital melanocytic naevi for clinical practice and research (the OCOMEN project): part 2.

BACKGROUND: Congenital melanocytic naevi (CMN) can have a great impact on patients' lives owing to perceived stigmatization, and the risk of melanoma development and neurological complications....
Br J Dermatol - issue: 5 - volume: 185 - pages: 970-977.

Fledderus, AC.  et al. 2021

Domains and outcomes of the core outcome set of congenital melanocytic naevi for clinical practice and research (the OCOMEN project): part 2

BACKGROUND: Congenital melanocytic naevi (CMN) can have a great impact on patients' lives owing to perceived stigmatization, and the risk of melanoma development and neurological complications....
Br J Dermatol - issue: 5 - volume: 185 - pages: 970-977.

Lasbleiz, A.  et al. 2021

Familial hypocalciuric hypercalcemia: the challenge of diagnosis.


Endocrine - issue: - volume: - pages: .

Fourneaux, R.  et al. 2021

Acromegaly in remission: a view from the partner.

OBJECTIVE: A relative can be an asset in dealing with chronic illnesses, such as acromegaly, where quality of life (QoL) is altered even after remission. However, it has been shown that quality of...
Eur J Endocrinol - issue: 6 - volume: 185 - pages: K21-K25.

d'Artigues, J.  et al. 2021

Fully endoscopic endonasal approach for the treatment of intrasellar arachnoid cysts.

PURPOSE: To report our experience of endoscopic endonasal obliteration of symptomatic sellar arachnoid cyst (SAC). METHODS: From 2002 to 2019, we retrospectively reported the data of 17 cases of SAC...
Pituitary - issue: - volume: - pages: .

Maraninchi, M.  et al. 2021

Role of growth hormone in hepatic and intestinal triglyceride-rich lipoprotein metabolism.

BACKGROUND: Elevated plasma concentrations of hepatic- and intestinally-derived triglyceride-rich lipoproteins (TRL) are implicated in the pathogenesis of atherosclerotic cardiovascular disease and...
J Clin Lipidol - issue: 5 - volume: 15 - pages: 712-723.

Kervarrec, T.  et al. 2021

Reevaluation of GLI1 Expression in Skin Tumors.


Am J Dermatopathol - issue: 10 - volume: 43 - pages: 759-761.

Moyon, A.  et al. 2021

Comparison of a New 68Ga-Radiolabelled PET Imaging Agent sCD146 and RGD Peptide for In Vivo Evaluation of Angiogenesis in Mouse Model of Myocardial Infarction

Ischemic vascular diseases are associated with elevated tissue expression of angiomotin (AMOT), a promising molecular target for PET imaging. On that basis, we developed an AMOT-targeting radiotracer,...
Cells - issue: 9 - volume: 10 - pages: 2305.

Haniffa, M.  et al. 2021

A roadmap for the Human Developmental Cell Atlas.

The Human Developmental Cell Atlas (HDCA) initiative, which is part of the Human Cell Atlas, aims to create a comprehensive reference map of cells during development. This will be critical to...
Nature - issue: 7875 - volume: 597 - pages: 196-205.

Haniffa, M.  et al. 2021

A roadmap for the Human Developmental Cell Atlas

The Human Developmental Cell Atlas (HDCA) initiative, which is part of the Human Cell Atlas, aims to create a comprehensive reference map of cells during development. This will be critical to...
Nature - issue: 7875 - volume: 597 - pages: 196-205.

Ben Aim, L.  et al. 2021

International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.

BACKGROUND: SDHB is one of the major genes predisposing to paraganglioma/pheochromocytoma (PPGL). Identifying pathogenic SDHB variants in patients with PPGL is essential to the management of patients...
J Med Genet - issue: - volume: - pages: .

Fleseriu, M.  et al. 2021

More than a decade of real-world experience of pegvisomant for acromegaly: ACROSTUDY.

OBJECTIVE: To report the final long-term safety and efficacy analyses of patients with acromegaly treated with pegvisomant from the ACROSTUDY. DESIGN: Global (15 countries), multicentre,...
Eur J Endocrinol - issue: 4 - volume: 185 - pages: 525-538.

Moog, S.  et al. 2021

Recurrence-Free Survival Analysis in Locally Advanced Pheochromocytoma: First Appraisal.

CONTEXT: The behavior of locally advanced pheochromocytoma (LAP) remains unknown. OBJECTIVE: We characterized the population with LAP and recurrence-free survival (RFS). METHODS: This retrospective...
J Clin Endocrinol Metab - issue: 9 - volume: 106 - pages: 2726-2737.

Gergics, P.  et al. 2021

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.

Pituitary hormone deficiency occurs in &#8764;1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator....
Am J Hum Genet - issue: 8 - volume: 108 - pages: 1526-1539.

de la Fouchardi, .  et al. 2021

Cutaneous Melanomas Arising during Childhood: An Overview of the Main Entities.

Cutaneous melanomas are exceptional in children and represent a variety of clinical situations, each with a different prognosis. In congenital nevi, the risk of transformation is correlated with the...
Dermatopathology (Basel) - issue: 3 - volume: 8 - pages: 301-314.

Malissen, N.  et al. 2021

Surgery of small bowel melanoma metastases in the era of efficient medical therapies: a retrospective cohort study.

Surgery of small bowel melanoma metastases has to be reconsidered in the era of targeted treatments and immunotherapy. To retrospectively assess context and outcomes of small bowel melanoma...
Melanoma Res - issue: 4 - volume: 31 - pages: 358-365.

Gaudy-Marqueste, C.  et al. 2021

Molecular characterization of fast-growing melanomas.

BACKGROUND: The rate of growth of primary melanoma is a robust predictor of aggressiveness, but the mutational profile of fast-growing melanomas (FGMM) and the potential to stratify patients at high...
J Am Acad Dermatol - issue: - volume: - pages: .

Romanet, P.  et al. 2021

Somatotroph Tumors and the Epigenetic Status of the GNAS Locus.

Forty percent of somatotroph tumors harbor recurrent activating GNAS mutations, historically called the gsp oncogene. In gsp-negative somatotroph tumors, GNAS expression itself is highly variable;...
Int J Mol Sci - issue: 14 - volume: 22 - pages: .

Castinetti, F.  et al. 2021

Osilodrostat in Cushing's disease: The risk of delayed adrenal insufficiency should be carefully monitored.

Antisecretory data shows a highly effective and prolonged blockade of cortisol secretion with osilodrostat. The drawback is the occurrence of adrenal insufficiency (AI) in roughly a quarter of...
Clin Endocrinol (Oxf) - issue: - volume: - pages: .

Graillon, T.  et al. 2021

Role of 3D volume growth rate for drug activity evaluation in meningioma clinical trials: the example of the CEVOREM study.

BACKGROUND: We aimed to improve the assessment of the drug activity in meningioma clinical trials based on the study of the 3D volume growth rate (3DVGR) in a series of aggressive meningiomas. We...
Neuro Oncol - issue: 7 - volume: 23 - pages: 1139-1147.

Castinetti, F.  et al. 2021

Approach to the Patient Treated with Steroidogenesis Inhibitors.

Steroidogenesis inhibitors can be given to control the hypercortisolism of Cushing's syndrome in various situations: when surgery has been unsuccessful or not possible; in metastatic...
J Clin Endocrinol Metab - issue: 7 - volume: 106 - pages: 2114-2123.

Cuny, T.  et al. 2021

Characterization of the ability of a, second-generation SST-DA chimeric molecule, TBR-065, to suppress GH secretion from human GH-secreting adenoma cells.

CONTEXT: Somatostatin (SST) and dopamine (DA) inhibit growth hormone (GH) secretion and proliferation of GH-secreting pituitary adenomas (GHomas) through binding to SSTR2 and D2R receptors. Chimeric...
Pituitary - issue: 3 - volume: 24 - pages: 351-358.

Eydoux, R.  et al. 2021

Women's perceptions of femininity after craniopharyngioma: a qualitative study.

BACKGROUND: Previous quantitative studies have shown a reduced quality of life in patients treated for craniopharyngioma (CP). However, few have assessed their sexual quality of life and other issues...
Clin Endocrinol (Oxf) - issue: 5 - volume: 94 - pages: 880-887.

Stefanovic, S.  et al. 2021

Outflow tract formation - Embryonic origins of conotruncal congenital heart disease

Anomalies in the cardiac outflow tract (OFT) are among the most frequent congenital heart defects (CHDs). During embryogenesis, the cardiac OFT is a dynamic structure at the arterial pole of the...
J Cardiovasc Dev Dis. - issue: 8 - volume: 4 - pages: 42.

Ho, K.  et al. 2021

Pituitary Neoplasm Nomenclature Workshop: Does Adenoma Stand the Test of Time?

The WHO Classification of Endocrine Tumours designates pituitary neoplasms as adenomas. A proposed nomenclature change to pituitary neuroendocrine tumors (PitNETs) has been met with concern by some...
J Endocr Soc - issue: 3 - volume: 5 - pages: bvaa205.

Hochman, C.  et al. 2021

Pre-term birth in women exposed to Cushing's disease: the baby-cush study.

DESIGN: Hypercortisolism during pregnancy is a risk factor for prematurity. Long-term exposure to hypercortisolism may lead to permanent comorbidities, such as hypertension or diabetes, even after...
Eur J Endocrinol - issue: 3 - volume: 184 - pages: 469-476.

Reincke, M.  et al. 2021

Corticotroph tumor progression after bilateral adrenalectomy (Nelson's syndrome): systematic review and expert consensus recommendations.

BACKGROUND: Corticotroph tumor progression (CTP) leading to Nelson's syndrome (NS) is a severe and difficult-to-treat complication subsequent to bilateral adrenalectomy (BADX) for Cushing's disease....
Eur J Endocrinol - issue: 3 - volume: 184 - pages: P1-P16.

Castinetti, F.  et al. 2021

The risks of medical treatment of prolactinoma.

First-line treatment of prolactinoma is usually medical, based on dopamine agonists receptors, mainly cabergoline. The classical side-effects of cabergoline (low blood pressure and nausea) have been...
Ann Endocrinol (Paris) - issue: 1 - volume: 82 - pages: 15-19.

Amodru, V.  et al. 2021

Medical management of adrenocortical carcinoma: Current recommendations, new therapeutic options and future perspectives.

Adrenocortical carcinoma is a rare malignant tumor of poor prognosis, frequently requiring additional treatments after initial surgery. Due to its adrenolytic action, mitotane has become the...
Ann Endocrinol (Paris) - issue: 1 - volume: 82 - pages: 52-58.

Castinetti, F.  et al. 2021

Positron Emission Tomography Imaging in Medullary Thyroid Carcinoma: Time for Reappraisal?

Medullary thyroid carcinomas (MTC) are rare neoplasms derived from calcitonin-secreting cells of the thyroid. They can occur sporadically or as part of the multiple endocrine neoplasia type 2...
Thyroid - issue: 2 - volume: 31 - pages: 151-155.

Jullien, N.  et al. 2021

Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.

CONTEXT: The international GENHYPOPIT network collects phenotypical data and screens genetic causes of non-acquired hypopituitarism. AIMS: To describe main phenotype patterns and their evolution...
Clin Endocrinol (Oxf) - issue: 2 - volume: 94 - pages: 277-289.

Salgues, B.  et al. 2021

Risk stratification of adrenal masses by [(18) F]FDG PET/CT: Changing tactics.

CONTEXT: [(18) F]FDG PET/CT improves adrenal tumour characterization. However, there is still no consensus regarding the optimal imaging biomarkers of malignancy. OBJECTIVES: To assess the...
Clin Endocrinol (Oxf) - issue: 2 - volume: 94 - pages: 133-140.

Buisset, C.  et al. 2021

Pheochromocytoma surgery without systematic preoperative pharmacological preparation: insights from a referral tertiary center experience.

BACKGROUND: Despite significant advances in imaging and genetics, as well as surgical and anesthetic innovations, morbidity in pheochromocytoma surgery remains significant. The aim of this study was...
Surg Endosc - issue: 2 - volume: 35 - pages: 728-735.

Kuhn, E.  et al. 2021

Correction to: Pegvisomant in combination or pegvisomant alone after failure of somatostatin analogs in acromegaly patients: an observational French ACROSTUDY cohort study.


Endocrine - issue: 1 - volume: 71 - pages: 265.

Gerard, C.  et al. 2021

Kinome rewiring during acquired drug resistance in neuroendocrine neoplasms.

Although there is evidence of a significant rise of neuroendocrine neoplasms (NENs) incidence, current treatments are largely insufficient due to somewhat poor knowledge of these tumours. Despite...
Endocr Relat Cancer - issue: 1 - volume: 28 - pages: 39-51.

Illouz, F.  et al. 2021

Somatostatin receptor ligands induce TSH deficiency in thyrotropin-secreting pituitary adenoma.

OBJECTIVE: Somatostatin receptor ligands (SRL) are useful to control central hyperthyroidism in patients with thyrotropin-secreting pituitary adenoma (TSH pituitary adenoma). The aim of this study...
Eur J Endocrinol - issue: 1 - volume: 184 - pages: 1-8.

Kuhn, E.  et al. 2021

Pegvisomant in combination or pegvisomant alone after failure of somatostatin analogs in acromegaly patients: an observational French ACROSTUDY cohort study.

OBJECTIVE: After surgery, when somatostatin analogs (SAs) do not normalise IGF-I, pegvisomant (PEG) is indicated. Our aim was to define the medical reasons for the treatment of patients with PEG as...
Endocrine - issue: 1 - volume: 71 - pages: 158-167.

Calbet-Llopart, N.  et al. 2020

Melanocortin-1 receptor (MC1R) genotypes do not correlate with size in two cohorts of medium-to-giant congenital melanocytic nevi

Congenital melanocytic nevi (CMN) are cutaneous malformations whose prevalence is inversely correlated with projected adult size. CMN are caused by somatic mutations, but epidemiological studies...
Pigment Cell Melanoma Res - issue: 5 - volume: 33 - pages: 685-694.

Graillon, T.  et al. 2020

Parasellar Meningiomas.

Parasellar spaces remain particularly singular, comprising the most important neurovascular structures such as the internal carotid artery and optic, oculomotor, and trigeminal nerves. Meningiomas...
Neuroendocrinology - issue: 9-10 - volume: 110 - pages: 780-796.

Castets, S.  et al. 2020

Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.

BACKGROUND: FOXL2 is the gene involved in blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). There have been few single case reports of growth hormone deficiency (GHD) with this...
Horm Res Paediatr - issue: 1 - volume: 93 - pages: 30-39.

Gadelha, M.  et al. 2020

Risk factors and management of pasireotide-associated hyperglycemia in acromegaly.

Pasireotide, a multireceptor-targeted somatostatin analog with highest affinity for somatostatin receptor subtype (SST) 5, has demonstrated superior efficacy over the SST2-preferential somatostatin...
Endocr Connect - issue: 12 - volume: 9 - pages: 1178-1190.

Martel-Duguech, LM.  et al. 2020

ESE audit on management of Adult Growth Hormone Deficiency in clinical practice.

Guidelines recommend adults with pituitary disease in whom GH therapy is contemplated, to be tested for GH deficiency (AGHD); however, clinical practice is not uniform. AIMS: 1) To record current...
Eur J Endocrinol - issue: - volume: - pages: .

Albarel, F.  et al. 2020

Evaluation of an individualized education program in pituitary diseases: a pilot study.

INTRODUCTION: The low prevalence of pituitary diseases makes patient autonomy crucial, and self-management programs should be more common. OBJECTIVES: To assess the efficacy of an education program...
Eur J Endocrinol - issue: 6 - volume: 183 - pages: 551-559.

Graillon, T.  et al. 2020

Brief CommunicationCirculating tumor DNA is present in the most aggressive meningiomas.


Neurooncol Adv - issue: 1 - volume: 2 - pages: vdaa068.

Oei, W.  et al. 2020

Development of an international core domain set for medium, large and giant congenital melanocytic nevi as a first step towards a core outcome set for clinical practice and research


Br J Dermatol - issue: - volume: - pages: bjd.19694.

Buffet, A.  et al. 2020

Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.

BACKGROUNDS: The incidence of germline mutations in the newly discovered cryptic exon (E1') of VHL gene in patients with von Hippel-Lindau (VHL) disease and in patients with paraganglioma or...
J Med Genet - issue: 11 - volume: 57 - pages: 752-759.

Macagno, N.  et al. 2020

Cutaneous Melanocytic Tumors With Concomitant NRASQ61R and IDH1R132C Mutations: A Report of 6 Cases.

We report a series of 6 melanocytic proliferations harboring both NRAS and IDH1 hotspot mutations. Clinically, there was no specific sex-ratio, ages ranged from 18 to 85 years, and the trunk and...
Am J Surg Pathol - issue: 10 - volume: 44 - pages: 1398-1405.

Mougel, G.  et al. 2020

Germinal defects of SDHx genes in patients with isolated pituitary adenoma.

BACKGROUND: The '3PAs' syndrome, associating pituitary adenoma (PA) and pheochromocytoma/paraganglioma (PPGL), is sometimes associated with mutations in PPGL-predisposing genes, such as SDHx or MAX....
Eur J Endocrinol - issue: 4 - volume: 183 - pages: 369-379.

Amodru, V.  et al. 2020

Discordant biological parameters of remission in acromegaly do not increase the risk of hypertension or diabetes: a study with the Liege Acromegaly Survey database.

PURPOSE: Acromegaly is a rare disease due to growth hormone (GH)-secreting pituitary adenoma. GH and IGF-1 levels are usually congruent, indicating either remission or active disease; however, a...
Endocrine - issue: 1 - volume: 70 - pages: 134-142.

Macagno, N.  et al. 2020

Cutaneous Melanocytic Tumors With Concomitant NRASQ61R and IDH1R132C Mutations: A Report of 6 Cases

We report a series of 6 melanocytic proliferations harboring both NRAS and IDH1 hotspot mutations. Clinically, there was no specific sex-ratio, ages ranged from 18 to 85 years, and the trunk and limbs...
Am. J. Surg. Pathol. - issue: 10 - volume: 44 - pages: 1398-1405.

Coopmans, EC.  et al. 2020

Multivariable Prediction Model for Biochemical Response to First-Generation Somatostatin Receptor Ligands in Acromegaly.

CONTEXT: First-generation somatostatin receptor ligands (fg-SRLs) represent the mainstay of medical therapy for acromegaly, but they provide biochemical control of disease in only a subset of...
J Clin Endocrinol Metab - issue: 9 - volume: 105 - pages: .

Amodru, V.  et al. 2020

Correction to: MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Endocrine - issue: 3 - volume: 69 - pages: 695.

Amodru, V.  et al. 2020

MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives.

Multiple endocrine neoplasia type 2 (MEN2) is a rare hereditary syndrome due to mutations of the proto-oncogene REarranged during Transfection (RET), defined by the association of medullary thyroid...
Endocrine - issue: 3 - volume: 69 - pages: 496-503.

R, .  et al. 2020

Commentary: The Impact of Insulin-Like Growth Factor Index and Biologically Effective Dose on Outcomes After Stereotactic Radiosurgery for Acromegaly: Cohort Study.


Neurosurgery - issue: 3 - volume: 87 - pages: E301-E302.

Mouly, C.  et al. 2020

Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.

OBJECTIVE: Familial hypocalciuric hypercalcaemia type 1 (FHH1), related to heterozygous loss-of-function mutations of the calcium-sensing receptor gene, is the main differential diagnosis for primary...
Clin Endocrinol (Oxf) - issue: 3 - volume: 93 - pages: 248-260.

Castinetti, F.  et al. 2020

Adrenal Crisis May Occur Even In Patients With Asymptomatic Covid-19.


Endocr Pract - issue: 8 - volume: 26 - pages: 929-930.

Lenders, JWM.  et al. 2020

Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma: a position statement and consensus of the Working Group on Endocrine Hypertension of the European Society of Hypertension.

: Phaeochromocytoma and paraganglioma (PPGL) are chromaffin cell tumours that require timely diagnosis because of their potentially serious cardiovascular and sometimes life- threatening sequelae....
J Hypertens - issue: 8 - volume: 38 - pages: 1443-1456.

Eggermann, T.  et al. 2020

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).

BACKGROUND: With the development of molecular high-throughput assays (i.e. next generation sequencing), the knowledge on the contribution of genetic and epigenetic alterations to the etiology of...
Orphanet J Rare Dis - issue: 1 - volume: 15 - pages: 144.

Larsen, LV.  et al. 2020

Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.

OBJECTIVE: Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by RET germline mutations and has been associated with primary hyperparathyroidism (PHPT) in up to 30% of cases....
Endocr Connect - issue: 6 - volume: 9 - pages: 489-497.

Colao, A.  et al. 2020

Pasireotide for acromegaly: long-term outcomes from an extension to the Phase III PAOLA study.

OBJECTIVE: In the Phase III PAOLA study (clinicaltrials.gov: NCT01137682), enrolled patients had uncontrolled acromegaly despite &#8805;6 months of octreotide/lanreotide treatment before study start....
Eur J Endocrinol - issue: 6 - volume: 182 - pages: 583.

Castinetti, F.  et al. 2020

Radiation techniques in aggressive pituitary tumours and carcinomas.

Defining the role of radiation techniques in treatment of aggressive pituitary tumours and carcinomas is a difficult task: indeed, studies reported in the literature on this topic can probably be...
Rev Endocr Metab Disord - issue: 2 - volume: 21 - pages: 287-292.

de Tersant, M.  et al. 2020

Pheochromocytoma and Paraganglioma in Children and Adolescents: Experience of the French Society of Pediatric Oncology (SFCE).

PURPOSE: The purpose of this work is to assess the clinical outcome of pediatric patients diagnosed with pheochromocytoma and paraganglioma (PPGL) detected in France since 2000. METHODS: A...
J Endocr Soc - issue: 5 - volume: 4 - pages: bvaa039.

Cambos, S.  et al. 2020

Persistent cortisol response to desmopressin predicts recurrence of Cushing's disease in patients with post-operative corticotropic insufficiency.

OBJECTIVE: Cushing's disease (CD) may recur despite corticotropic insufficiency (COI) following pituitary surgery. The predictive value of the desmopressin test (DT) for recurrence in this setting...
Eur J Endocrinol - issue: 5 - volume: 182 - pages: 489-498.

Graillon, T.  et al. 2020

Surgical indications for pituitary tumors during pregnancy: a literature review.

PURPOSE: Surgical indications for pituitary tumors during pregnancy are rare, and are derived from a balance between expected benefits, particularly for maternal benefits, and anesthetic/surgical...
Pituitary - issue: 2 - volume: 23 - pages: 189-199.

Graillon, T.  et al. 2020

Fluctuation analysis of postoperative secretory status in patients operated for acromegaly.

OBJECTIVE: The aim of this study was to describe endocrinological outcome in patients operated on for acromegaly. METHODS: A retrospective study included 167 patients. Patients were assessed in the...
Ann Endocrinol (Paris) - issue: 1 - volume: 81 - pages: 11-17.

Jullien, M.  et al. 2020

Comparison of 68Ga-Dotatate PET/CT and 18F-FDOPA PET/CT for the diagnosis of pancreatic neuroendocrine tumors in a MEN1 patient.

CONTEXT: Pancreatic neuroendocrine tumors (PNETs) occur in more than 80% of patients with multiple endocrine neoplasia type 1 (MEN1) syndrome, with predominance of small (<1cm) non-functioning...
Ann Endocrinol (Paris) - issue: 1 - volume: 81 - pages: 39-43.

Graillon, T.  et al. 2020

Everolimus and Octreotide for Patients with Recurrent Meningioma: Results from the Phase II CEVOREM Trial.

PURPOSE: Aggressive meningiomas that progress after surgery/radiotherapy represent an unmet medical need. Strong and constant expression of SSTR2A receptors and activation of the Pi3K/Akt/mTOR...
Clin Cancer Res - issue: 3 - volume: 26 - pages: 552-557.

Graillon, T.  et al. 2020

Transcranial approach in giant pituitary adenomas: results and outcome in a modern series.

BACKGROUND: Today, transcranial (TC) approach indications are particularly rare in pituitary adenomas (PA), representing 1.1% of all PA surgeries in our experience. In these rare and selected cases,...
J Neurosurg Sci - issue: 1 - volume: 64 - pages: 25-36.

Coppin, L.  et al. 2020

Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism?

OBJECTIVE: Primary hyperparathyroism (PHPT) is a disease with either sporadic or inherited presentation. Germline mutations responsible for this disease can be found in different genes, the most...
Eur J Endocrinol - issue: 1 - volume: 182 - pages: 57-65.

Almutairi, B.  et al. 2019

Epigenetic deregulation of GATA3 in neuroblastoma is associated with increased GATA3 protein expression and with poor outcomes

To discover epigenetic changes that may underly neuroblastoma pathogenesis, we identified differentially methylated genes in neuroblastoma cells compared to neural crest cells, the presumptive...
Sci Rep - issue: 1 - volume: 9 - pages: 18934.

Macagno, N.  et al. 2019

Grading of meningeal solitary fibrous tumors/hemangiopericytomas: analysis of the prognostic value of the Marseille Grading System in a cohort of 132 patients

The finding that meningeal solitary fibrous tumors (SFTs) and meningeal hemangiopericytomas (HPCs) are both characterized by NAB2-STAT6 gene fusion has pushed their inclusion in the WHO 2016...
Brain Pathol. - issue: 1 - volume: 29 - pages: 18-27.

Fultang, L.  et al. 2019

Macrophage-Derived IL1β and TNFα Regulate Arginine Metabolism in Neuroblastoma

Neuroblastoma is the most common childhood solid tumor, yet the prognosis for high-risk disease remains poor. We demonstrate here that arginase 2 (ARG2) drives neuroblastoma cell proliferation via...
Cancer Res. - issue: 3 - volume: 79 - pages: 611-624.

Gertz, MA.  et al. 2019

Advances in the treatment of hereditary transthyretin amyloidosis: A review

INTRODUCTION: Amyloid transthyretin amyloidosis (ATTR) is a progressive and often fatal disease caused by the buildup of mutated (hereditary ATTR [hATTR]; also known as ATTR variant [ATTRv]) or normal...
Brain Behav - issue: 9 - volume: 9 - pages: e01371.

Olarescu, NC.  et al. 2019

Aggressive and Malignant Prolactinomas


- issue: 1 - volume: 109 - pages: 57-69.

Denis, J.  et al. 2019

[Development of molecular analysis by digital PCR for clinical practice: positioning, current applications and perspectives].

This review is the second part of the workshop on digital PCR (dPCR) proposed by the working group of the French society of clinical biology. The first part of the paper discusses the advantages and...
Ann Biol Clin (Paris) - issue: 6 - volume: 77 - pages: 619-637.

Vergier, J.  et al. 2019

Pituitary stalk interruption syndrome: etiology and clinical manifestations


- issue: 5 - volume: 181 - pages: R199-R209.

Cuny, T.  et al. 2019

Acromegaly in Carney complex.

PURPOSE: Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by mucocutaneous pigmentation, cardiac, cutaneous myxomas and endocrine overactivity. It is generally caused by...
Pituitary - issue: 5 - volume: 22 - pages: 456-466.

Albarel, F.  et al. 2019

MANAGEMENT OF ENDOCRINE DISEASE: Immune check point inhibitors-induced hypophysitis.

In recent years, the development of immunotherapy has constituted a revolution in the therapy for many cancers, with a specific toxicity profile including endocrine immune-related adverse events....
Eur J Endocrinol - issue: 3 - volume: 181 - pages: R107-R118.

Cavodeassi, F.  et al. 2019

The hedgehog pathway and ocular developmental anomalies

Mutations in effectors of the hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies. These range from massive malformations of the brain and ocular primordia,...
- issue: 8-9, SI - volume: 138 - pages: 917-936.

Neumann, HPH.  et al. 2019

Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy.

IMPORTANCE: Large studies investigating long-term outcomes of patients with bilateral pheochromocytomas treated with either total or cortical-sparing adrenalectomies are needed to inform clinical...
JAMA Netw Open - issue: 8 - volume: 2 - pages: e198898.

Mondielli, G.  et al. 2019

TARGETING PI3K-AKT-MTOR AND MAP-KINASE PATHWAYS IN AGGRESSIVE MENINGIOMAS: IN VITRO STUDY


- issue: 3 - volume: 21 - pages: 17.

Florea, SM.  et al. 2019

Ophthalmoplegic complications in transsphenoidal pituitary surgery.

OBJECTIVE: Ophthalmoplegia is a rare complication of transsphenoidal surgery, only noted in a few studies. The purpose of this study was to analyze the complications of cranial nerve III, IV, or VI...
J Neurosurg - issue: - volume: - pages: 1-9.

Castinetti, F.  et al. 2019

Age and MEN2 outcome.


Aging (Albany NY) - issue: 11 - volume: 11 - pages: 3416-3417.

Romanet, P.  et al. 2019

Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants.

In 2015, the ACMG-AMP guidelines provided a general procedure for the objective and reproducible classification of genomic variants. While the benefits of this framework are of major importance, its...
Hum Mutat - issue: 6 - volume: 40 - pages: 661-674.

Amodru, V.  et al. 2019

Tumor multifocality with vagus nerve involvement as a phenotypic marker of SDHD mutation in patients with head and neck paragangliomas: A (18) F-FDOPA PET/CT study.

BACKGROUND: (18) F-FDOPA PET/CT was proved to be a highly sensitive imaging method for detecting head and neck paraganglioma (HNPGL). The primary aim of the study was to evaluate the relationship...
Head Neck - issue: 6 - volume: 41 - pages: 1565-1571.

Romano, D.  et al. 2019

Relevance of neuroendocrine tumours models assessed by kinomic profiling

Although there is evidence of a significant rise of neuroendocrine tumours (NETs) incidence, current treatments are largely insufficient due to somewhat poor knowledge of these tumours. Despite many...
- issue: 3 - volume: 80 - pages: 144-148.

Castinetti, F.  et al. 2019

[Immunotherapy-induced endocrinopathies: Insights from the 2018 French Endocrine Society Guidelines].

The management of cancer patients has changed due to the considerably more frequent use of immune checkpoint inhibitors (ICPI). However, the use of ICPI has a risk of side-effects, particularly...
Bull Cancer - issue: 5 - volume: 106 - pages: 492-496.

Castinetti, F.  et al. 2019

Radiotherapy as a tool for the treatment of Cushing's disease.

Treatment of Cushing's disease (CD) is one of the most challenging tasks in endocrinology. The first-line treatment, transsphenoidal pituitary surgery, is associated with a high failure rate and a...
Eur J Endocrinol - issue: 5 - volume: 180 - pages: D9-D18.

Sahakian, N.  et al. 2019

Clinical management of difficult to treat macroprolactinomas.

INTRODUCTION: Prolactinomas represent the most common pituitary adenomas encountered in the clinic. While a majority of these tumors will be successfully treated by dopamine agonist (DA) such as...
Expert Rev Endocrinol Metab - issue: 3 - volume: 14 - pages: 179-192.

Jaouadi, H.  et al. 2019

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

Noonan syndrome and related disorders are a group of clinically and genetically heterogeneous conditions caused by mutations in genes of the RAS/MAPK pathway. Noonan syndrome causes multiple...
Genet Res (Camb) - issue: - volume: 101 - pages: e6.

Jaouadi, H.  et al. 2019

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

Noonan syndrome and related disorders are a group of clinically and genetically heterogeneous conditions caused by mutations in genes of the RAS/MAPK pathway. Noonan syndrome causes multiple...
Genet Res (Camb) - issue: - volume: 101 - pages: e6.

Vogels, R.  et al. 2019

Prognostic significance of NAB2-STAT6 fusion variants and TERT promotor mutations in solitary fibrous tumors/hemangiopericytomas of the CNS: not (yet) clear


- issue: 4 - volume: 137 - pages: 679-682.

Costinetti, F.  et al. 2019

2018 Consensus of the French Society of Endocrinology: endocrine toxicities of cancer immunotherapies


- issue: 2 - volume: 23 - pages: 31-36.

Etchevers, HC.  et al. 2019

The diverse neural crest: from embryology to human pathology

We review here some of the historical highlights in exploratory studies of the vertebrate embryonic structure known as the neural crest. The study of the molecular properties of the cells that it...
Development - issue: - volume: 146(5) - pages: dev.169821.

Etchevers, HC.  et al. 2019

The diverse neural crest: from embryology to human pathology

We review here some of the historical highlights in exploratory studies of the vertebrate embryonic structure known as the neural crest. The study of the molecular properties of the cells that it...
- issue: - volume: - pages: .

Castinetti, F.  et al. 2019

Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study.

BACKGROUND: Multiple endocrine neoplasia type 2B is a rare syndrome caused mainly by Met918Thr germline RET mutation, and characterised by medullary thyroid carcinoma, phaeochromocytoma, and...
Lancet Diabetes Endocrinol - issue: 3 - volume: 7 - pages: 213-220.

Romanet, P.  et al. 2019

UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population.

CONTEXT: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene characterized by a broad spectrum of clinical manifestations, of which the...
J Clin Endocrinol Metab - issue: 3 - volume: 104 - pages: 753-764.

Romanet, P.  et al. 2019

Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome

The GNAS postzygotic mosaic activating mutations involved in fibrous dysplasia and McCune-Albright syndrome (MAS) are not detectable in leukocytes by Sanger sequencing. Digital droplet polymerase...
- issue: - volume: 205 - pages: 281+.

Romanet, P.  et al. 2019

Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome


- issue: - volume: 205 - pages: 281+.

Romanet, P.  et al. 2019

Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome.

The GNAS postzygotic mosaic activating mutations involved in fibrous dysplasia and McCune-Albright syndrome (MAS) are not detectable in leukocytes by Sanger sequencing. Digital droplet polymerase...
J Pediatr - issue: - volume: 205 - pages: 281-285.e4.

Caron, P.  et al. 2019

Signs and symptoms of acromegaly at diagnosis: the physician's and the patient's perspectives in the ACRO-POLIS study.

PURPOSE: Acromegaly is characterized by a broad range of manifestations. Early diagnosis is key to treatment success, but is often delayed as symptomatology overlaps with common disorders. We...
Endocrine - issue: 1 - volume: 63 - pages: 120-129.

Asseeva, P.  et al. 2019

Value of (123)I/(99m)Tc-sestamibi parathyroid scintigraphy with subtraction SPECT/CT in primary hyperparathyroidism for directing minimally invasive parathyroidectomy.

BACKGROUND: Primary hyperparathyroidism/(PHPT) is one of the most common endocrinological conditions. Surgery remains the only curative option. We have evaluated the performance of double isotope...
Am J Surg - issue: 1 - volume: 217 - pages: 108-113.

Etchevers, HC.  et al. 2018

Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF

Giant congenital melanocytic nevi may be symptomatically isolated or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A...
Pigment Cell Melanoma Res - issue: 3 - volume: 31 - pages: 437-441.

Zaffran, S.  et al. 2018

Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations

Members of the large family of Hox transcription factors are encoded by genes whose tightly regulated expression in development and in space within different embryonic tissues confer positional...
Genesis - issue: 6-7 - volume: 56 - pages: e23221.

Macagno, N.  et al. 2018

Reduced H3K27me3 Expression is Common in Nodular Melanomas of Childhood Associated With Congenital Melanocytic Nevi But Not in Proliferative Nodules


Am. J. Surg. Pathol. - issue: 5 - volume: 42 - pages: 701-704.

Thomas, AC.  et al. 2018

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development

BACKGROUND: MC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (αMSH), modulates pigment production in melanocytes from many species and is associated with...
Birth Defects Res - issue: 5 - volume: 110 - pages: 443-455.

Maurice, F.  et al. 2018

Active Cushing syndrome patients have increased ectopic fat deposition and bone marrow fat content compared to cured patients and healthy subjects: a pilot H-1-MRS study

Objective: Glucocorticoid excess is one of the most important causes of bone disorders. Bone marrow fat (BMF) has been identified as a new mediator of bone metabol ism. Cushing syndrome (CS) is a main...
- issue: 5 - volume: 179 - pages: 307-317.

Etchevers, H.  et al. 2018

Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF

Giant congenital melanocytic nevi may be symptomatically isolated, or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A...
- issue: - volume: - pages: .

Etchevers, H.  et al. 2018

The diverse neural crest: from embryology to human pathology

We review here some of the historical highlights in exploratory studies of the vertebrate embryonic structure known as the neural crest. The study of the molecular properties of the cells that it...
- issue: - volume: - pages: .

Jullien, N.  et al. 2018

Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency

LHX3 is an LIM domain transcription factor involved in the early steps of pituitary ontogenesis. We report here functional studies of three allelic variants, including the first heterozygous variant...
- issue: 2 - volume: 27 - pages: 216-225.

Fultang, L.  et al. 2018

Macrophage-derived IL-1β and TNF-α regulate arginine metabolism in neuroblastoma

Neuroblastoma is the most common childhood solid tumor, yet the prognosis for high-risk disease remains poor. We demonstrate here that arginase 2 (ARG2) drives neuroblastoma cell proliferation via...
Cancer Res - issue: - volume: - pages: .

Buchfelder, M.  et al. 2018

Long-term treatment with pegvisomant: observations from 2090 acromegaly patients in ACROSTUDY.

Objectives ACROSTUDY is an international, non-interventional study of acromegaly patients treated with pegvisomant (PEGV), a growth hormone receptor antagonist and has been conducted since 2004 in 15...
Eur J Endocrinol - issue: 6 - volume: 179 - pages: 419-427.

Brue, T.  et al. 2018

Diabetes in patients with acromegaly treated with pegvisomant: observations from acrostudy

PURPOSE: To explore the effects of pegvisomant (PEGV) on glucose metabolism in patients with acromegaly within ACROSTUDY, an international, observational, prospective safety surveillance study....
Endocrine - issue: - volume: - pages: .

Romanet, P.  et al. 2018

Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome

The GNAS postzygotic mosaic activating mutations involved in fibrous dysplasia and Mc Cune Albright syndrome (FD/MAS) are not detectable in leukocytes by Sanger sequencing. Digital droplet PCR™...
- issue: - volume: - pages: .

Cuny, T.  et al. 2018

Role of the tumor microenvironment in digestive neuroendocrine tumors.

Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) represent a group of heterogeneous tumors whose incidence increased over the past few years. Around half of patients already present with...
Endocr Relat Cancer - issue: 11 - volume: 25 - pages: R519-R544.

Maurice, F.  et al. 2018

Cushing Syndrome Is Associated With Subclinical LV Dysfunction and Increased Epicardial Adipose Tissue.


J Am Coll Cardiol - issue: 18 - volume: 72 - pages: 2276-2277.

Romanet, P.  et al. 2018

UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1,676 patients from the French population

Context: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene characterized by a broad spectrum of clinical manifestations, of which the...
- issue: - volume: - pages: .

Briet, C.  et al. 2018

Expert opinion on pituitary complications in immunotherapy

Hypophysitis is a frequent toxic endocrine side-effect of immunotherapy. Prevalence is higher with anti-CTLA-4 antibodies (4-20%) or in association with PD-1 inhibitors (8%). Diagnosis is presumptive,...
Ann. Endocrinol. (Paris) - issue: 5 - volume: 79 - pages: 562-568.

Castinetti, F.  et al. 2018

Introduction to expert opinion on endocrine complications of new anticancer therapies.

Over the last 10 years, cancer treatment has progressed, with increasing use of tyrosine kinase inhibitors, mTOR inhibitors and, most recently, immunotherapy. These molecules, however, also incur...
Ann Endocrinol (Paris) - issue: 5 - volume: 79 - pages: 535-538.

Castinetti, F.  et al. 2018

Endocrine side-effects of new anticancer therapies: Overall monitoring and conclusions.

The present final consensus statement of the French Society of Endocrinology lays out the assessments that are to be systematically performed before and during anticancer treatment by immunotherapy,...
Ann Endocrinol (Paris) - issue: 5 - volume: 79 - pages: 591-595.

Albarel, F.  et al. 2018

Daily life, needs and expectations of patients with acromegaly in France: An on-line survey

Acromegaly can impair quality of life, but impact on patients' daily life, needs and expectations have been poorly explored. OBJECTIVES: To better understand the impact of acromegaly on patients'...
Ann. Endocrinol. (Paris) - issue: - volume: - pages: .

Vermalle, M.  et al. 2018

[Hereditary pheochromocytoma and paraganglioma: screening and follow-up strategies in asymptomatic mutation carriers].

The management of pheochromocytoma and paraganglioma has deeply evolved over the last years due to the discovery of novel genes of susceptibility, especially SDHx, MAX and TMEM127. While the...
Ann Endocrinol (Paris) - issue: - volume: 79 Suppl 1 - pages: S10-S21.

Vermalle, M.  et al. 2018

Lack of functional remission in Cushing's syndrome.

INTRODUCTION: Hypercortisolism leads to severe clinical consequences persisting after the onset of remission. These physical sequelae of cortisol exposure are known to profoundly impact the patient's...
Endocrine - issue: 3 - volume: 61 - pages: 518-525.

Cavodeassi, F.  et al. 2018

The hedgehog pathway and ocular developmental anomalies

Mutations in effectors of the hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies. These range from massive malformations of the brain and ocular primordia,...
Hum. Genet. - issue: - volume: - pages: .

Cavodeassi, F.  et al. 2018

The hedgehog pathway and ocular developmental anomalies

Mutations in effectors of the hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies. These range from massive malformations of the brain and ocular primordia,...
Hum. Genet. - issue: - volume: - pages: .

Trainer, PJ.  et al. 2018

A randomised, open-label, parallel group phase 2 study of antisense oligonucleotide therapy in acromegaly.

OBJECTIVE: ATL1103 is a second-generation antisense oligomer targeting the human growth hormone (GH) receptor. This phase 2 randomised, open-label, parallel-group study assessed the potential of...
Eur J Endocrinol - issue: 2 - volume: 179 - pages: 97-108.

Borius, P.  et al. 2018

An Open-Label, Analgesic Efficacy and Safety of Pituitary Radiosurgery for Patients With Opioid-Refractory Pain: Study Protocol for a Randomized Controlled Trial.

BACKGROUND: Hypophysectomy performed by craniotomy or percutaneous techniques leads to complete pain relief in more than 70% to 80% of cases for opioid refractory cancer pain. Radiosurgery could be...
Neurosurgery - issue: 1 - volume: 83 - pages: 146-153.

Brue, T.  et al. 2018

Management of Cushing's syndrome during pregnancy: solved and unsolved questions

With fewer than 200 reported cases, Cushing's syndrome (CS) in pregnancy remains a diagnostic and therapeutic challenge. In normal pregnancies, misleading signs may be observed such as striae or...
- issue: 6 - volume: 178 - pages: R259-R266.

Paladino, NC.  et al. 2018

Characterization of adrenocortical tumors by (18)F-FDG PET/CT: Does steroid hormone hypersecretion status modify the uptake pattern?

BACKGROUND: adrenal tumor-to-liver uptake value (Tmx:Lmx) on (18)F-FDG PET/CT is an accurate and reproducible PET parameter in the distinction between benign and malignant adrenal masses. The...
Surg Oncol - issue: 2 - volume: 27 - pages: 231-235.

Brue, T.  et al. 2018

MANAGEMENT OF ENDOCRINE DISEASE: Management of Cushing's syndrome during pregnancy: solved and unsolved questions.

With fewer than 200 reported cases, Cushing's syndrome (CS) in pregnancy remains a diagnostic and therapeutic challenge. In normal pregnancies, misleading signs may be observed such as striae or...
Eur J Endocrinol - issue: 6 - volume: 178 - pages: R259-R266.

Bahougne, T.  et al. 2018

Functioning Mediastinal Paraganglioma Associated with a Germline Mutation of von Hippel-Lindau Gene.

We report the case of a 21-year old woman presenting with high blood pressure and raised normetanephrine levels. Indium-111-pentetreotide single photon-emission computed tomography with computed...
J Clin Med - issue: 6 - volume: 7 - pages: .

Young, J.  et al. 2018

Hepatic safety of ketoconazole in Cushing's syndrome: results of a Compassionate Use Programme in France.

OBJECTIVE: Ketoconazole (KTZ) is one of few available treatments for Cushing's syndrome (CS). Although KTZ has been associated with severe hepatotoxicity, little information is available about...
Eur J Endocrinol - issue: 5 - volume: 178 - pages: 447-458.

Ta, .  et al. 2018

18F-FDOPA PET/CT Imaging of MAX-Related Pheochromocytoma.

CONTEXT: MYC-associated factor X (MAX) has been recently described as a new susceptibility pheochromocytoma (PHEO) gene with a total of ~40 reported cases. At present, no study has specifically...
J Clin Endocrinol Metab - issue: 4 - volume: 103 - pages: 1574-1582.

Thomas, AC.  et al. 2018

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development

BackgroundMC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (MSH), modulates pigment production in melanocytes from many species and is associated with...
- issue: 5 - volume: 110 - pages: 443-455.

McCormack, A.  et al. 2018

Treatment of aggressive pituitary tumours and carcinomas: results of a European Society of Endocrinology (ESE) survey 2016.

OBJECTIVE: To collect outcome data in a large cohort of patients with aggressive pituitary tumours (APT)/carcinomas (PC) and specifically report effects of temozolomide (TMZ) treatment. DESIGN:...
Eur J Endocrinol - issue: 3 - volume: 178 - pages: 265-276.

Reznik, Y.  et al. 2018

SFE/SFEDP adrenal insufficiency French consensus: Introduction and handbook.

The French endocrinology society (SFE) and the French pediatric endocrinology society (DFSDP) have drawn up recommendations for the management of primary and secondary adrenal insufficiency in the...
Ann Endocrinol (Paris) - issue: 1 - volume: 79 - pages: 1-22.

Gilly, O.  et al. 2018

Unilateral aggressive pheochromocytoma revealed by a massive intraperitoneal hemorrhage five years after an initial presentation suggesting an adrenal hematoma.


Ann Endocrinol (Paris) - issue: 1 - volume: 79 - pages: 48-52.

Amodru, V.  et al. 2018

Quantitative (18)F-DOPA PET/CT in pheochromocytoma: the relationship between tumor secretion and its biochemical phenotype.

INTRODUCTION: (18)F-FDOPA illustrates the properties of uptake and storage of catecholamines in pheochromocytomas (PHEOs). Until now, the relationship between (18)F-FDOPA quantitative parameters and...
Eur J Nucl Med Mol Imaging - issue: 2 - volume: 45 - pages: 278-282.

Guerin, C.  et al. 2018

Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms.

Over the last years, the knowledge of MEN2 and non-MEN2 familial forms of pheochromocytoma (PHEO) has increased. In MEN2, PHEO is the second most frequent disease: the penetrance and age at diagnosis...
Endocr Relat Cancer - issue: 2 - volume: 25 - pages: T15-T28.

Castinetti, F.  et al. 2018

A comprehensive review on MEN2B.

MEN2B is a very rare autosomal dominant hereditary tumor syndrome associated with medullary thyroid carcinoma (MTC) in 100% cases, pheochromocytoma in 50% cases and multiple extra-endocrine features,...
Endocr Relat Cancer - issue: 2 - volume: 25 - pages: T29-T39.

Lacroix, A.  et al. 2018

Efficacy and safety of once-monthly pasireotide in Cushing's disease: a 12 month clinical trial.

BACKGROUND: Cushing's disease is a rare debilitating endocrine disorder for which few prospective interventional studies have been done. We report results of the first phase 3 trial assessing...
Lancet Diabetes Endocrinol - issue: 1 - volume: 6 - pages: 17-26.

Charlet, J.  et al. 2017

Genome-wide DNA methylation analysis identifies MEGF10 as a novel epigenetically repressed candidate tumor suppressor gene in neuroblastoma

Neuroblastoma is a childhood cancer in which many children still have poor outcomes, emphasising the need to better understand its pathogenesis. Despite recent genome-wide mutation analyses, many...
Mol. Carcinog. - issue: 4 - volume: 56 - pages: 1290-1301.

Valassi, E.  et al. 2017

Diagnostic tests for Cushing's syndrome differ from published guidelines: data from ERCUSYN

OBJECTIVE: To evaluate which tests are performed to diagnose hypercortisolism in patients included in the European Registry on Cushing's syndrome (ERCUSYN), and to examine if their use differs from...
Eur. J. Endocrinol. - issue: 5 - volume: 176 - pages: 613-624.

Petrossians, P.  et al. 2017

Acromegaly at diagnosis in 3173 patients from the Liège Acromegaly Survey (LAS) Database

Acromegaly is a rare disorder caused by chronic growth hormone (GH) hypersecretion. While diagnostic and therapeutic methods have advanced, little information exists on trends in acromegaly...
Endocr. Relat. Cancer - issue: 10 - volume: 24 - pages: 505-518.

Boeva, V.  et al. 2017

Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries

Neuroblastoma is a tumor of the peripheral sympathetic nervous system, derived from multipotent neural crest cells (NCCs). To define core regulatory circuitries (CRCs) controlling the gene expression...
Nat. Genet. - issue: 9 - volume: 49 - pages: 1408-1413.

Castinetti, F.  et al. 2017

Gamma Knife radiosurgery for hypothalamic hamartoma preserves endocrine functions

Gamma Knife radiosurgery (GK) is an effective treatment for hypothalamic hamartoma. No precise data are available on the risk of endocrine side effects of this treatment. In this study, 34 patients...
Epilepsia - issue: - volume: 58 Suppl 2 - pages: 72-76.

Franck, SE.  et al. 2017

A multivariable prediction model for pegvisomant dosing: monotherapy and in combination with long-acting somatostatin analogues

BACKGROUND: Effective treatment of acromegaly with pegvisomant (PEGV), a growth hormone receptor antagonist, requires an appropriate dose titration. PEGV doses vary widely among individual patients,...
Eur. J. Endocrinol. - issue: 4 - volume: 176 - pages: 421-430.

Charlet, J.  et al. 2017

Genome-wide DNA methylation analysis identifies MEGF10 as a novel epigenetically repressed candidate tumor suppressor gene in neuroblastoma

Neuroblastoma is a childhood cancer in which many children still have poor outcomes, emphasising the need to better understand its pathogenesis. Despite recent genome-wide mutation analyses, many...
Mol. Carcinog. - issue: 4 - volume: 56 - pages: 1290-1301.

Graillon, T.  et al. 2017

Transcranial approach in giant pituitary adenomas: results and outcome in a modern series

BACKGROUND: Today, transcranial (TC) approach indications are particularly rare in pituitary adenomas (PA), representing 1.1% of all PA surgeries in our experience. In these rare and selected cases,...
J Neurosurg Sci - issue: - volume: - pages: .

Brue, T.  et al. 2016

The risks of overlooking the diagnosis of secreting pituitary adenomas

Secreting pituitary adenomas that cause acromegaly and Cushing's disease, as well as prolactinomas and thyrotroph adenomas, are uncommon, usually benign, slow-growing tumours. The rarity of these...
Orphanet J Rare Dis - issue: 1 - volume: 11 - pages: 135.

Chassaing, N.  et al. 2016

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

Ocular developmental anomalies (ODA) such as anophthalmia/microphthalmia (AM) or anterior segment dysgenesis (ASD) have an estimated combined prevalence of 3.7 in 10,000 births. Mutations in SOX2 are...
Genome Res. - issue: 4 - volume: 26 - pages: 474-485.

Chassaing, N.  et al. 2016

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

Ocular developmental anomalies (ODA) such as anophthalmia/microphthalmia (AM) or anterior segment dysgenesis (ASD) have an estimated combined prevalence of 3.7 in 10,000 births. Mutations in SOX2 are...
Genome Res. - issue: 4 - volume: 26 - pages: 474-485.

El Robrini, N.  et al. 2016

Cardiac outflow morphogenesis depends on effects of retinoic acid signaling on multiple cell lineages

BACKGROUND: Retinoic acid (RA), the bioactive derivative of vitamin A, is essential for vertebrate heart development. Both excess and reduced RA signaling lead to cardiovascular malformations...
Dev. Dyn. - issue: 3 - volume: 245 - pages: 388-401.

Roussel-Gervais, A.  et al. 2016

The Cables1 Gene in Glucocorticoid Regulation of Pituitary Corticotrope Growth and Cushing Disease

CONTEXT: Cushing disease (CD) is due to pituitary corticotrope adenomas that produce unrestrained ACTH secretion and have lost the negative feedback exerted by glucocorticoids (GCs). GCs also restrain...
J. Clin. Endocrinol. Metab. - issue: 2 - volume: 101 - pages: 513-522.

Price, HN.  et al. 2015

Practical application of the new classification scheme for congenital melanocytic nevi

A new consensus-based classification of congenital melanocytic nevi (CMN) has recently been proposed. It includes categories for projected adult size (PAS) and location, satellite nevi counts, and...
Pediatr Dermatol - issue: 1 - volume: 32 - pages: 23-27.

Etchevers, HC.  et al. 2014

Hiding in plain sight: molecular genetics applied to giant congenital melanocytic nevi

Large and giant congenital melanocytic nevi are rare malformations that offer surprising insight into prenatal and postnatal acquisition of nevi of any size, central and peripheral nervous system...
J. Invest. Dermatol. - issue: 4 - volume: 134 - pages: 879-882.

Yajima, I.  et al. 2013

A subpopulation of smooth muscle cells, derived from melanocyte-competent precursors, prevents patent ductus arteriosus

BACKGROUND: Patent ductus arteriosus is a life-threatening condition frequent in premature newborns but also present in some term infants. Current mouse models of this malformation generally lead to...
PLoS ONE - issue: 1 - volume: 8 - pages: e53183.

Berg, JS.  et al. 2013

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium


- issue: 11 - volume: 15 - pages: 860-867.

Golzio, C.  et al. 2012

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

The LIM homeodomain gene Islet-1 (ISL1) encodes a transcription factor that has been associated with the multipotency of human cardiac progenitors, and in mice enables the correct deployment of second...
PLoS ONE - issue: 1 - volume: 7 - pages: e30677.

Krupp, DR.  et al. 2012

Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE)

BACKGROUND: Neural tube defects (NTDs) are common human birth defects with a complex etiology. To develop a comprehensive knowledge of the genes expressed during normal neurulation, we established...
Birth Defects Res. Part A Clin. Mol. Teratol. - issue: 9 - volume: 94 - pages: 683-692.

Chassaing, N.  et al. 2012

OTX2 mutations contribute to the otocephaly-dysgnathia complex

BACKGROUND: Otocephaly or dysgnathia complex is characterised by mandibular hypoplasia/agenesis, ear anomalies, microstomia, and microglossia; the molecular basis of this developmental defect is...
J. Med. Genet. - issue: 6 - volume: 49 - pages: 373-379.

Van Der Werf, CS.  et al. 2012

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome

BACKGROUND & AIMS: Short-bowel syndrome usually results from surgical resection of the small intestine for diseases such as intestinal atresias, volvulus, and necrotizing enterocolitis. Patients with...
Gastroenterology - issue: 3 - volume: 142 - pages: 453-462.e3.

Etchevers, H.  et al. 2011

Primary culture of chick, mouse or human neural crest cells

A highly enriched population of neural crest cells (NCCs) from amniote embryos, such as from chicks, mice and humans, is desirable for experiments in fate determination. NCCs are also useful for...
Nat Protoc - issue: 10 - volume: 6 - pages: 1568-1577.

Macé, M.  et al. 2011

Comparative transcriptome and network biology analyses demonstrate antiproliferative and hyperapoptotic phenotypes in human keratoconus corneas

PURPOSE: To decipher the biological pathways involved in keratoconus pathophysiology by determining the patterns of differential gene expression between keratoconus and control corneas. METHODS: RNA...
Invest. Ophthalmol. Vis. Sci. - issue: 9 - volume: 52 - pages: 6181-6191.

Krengel, S.  et al. 2011

Meeting report from the 2011 International Expert Meeting on Large Congenital Melanocytic Nevi and Neurocutaneous Melanocytosis, Tübingen


Pigment Cell Melanoma Res - issue: 4 - volume: 24 - pages: E1-6.

Cognet, M.  et al. 2011

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

Feingold syndrome (FS) is a syndromic microcephaly entity for which MYCN is the major disease-causing gene. We studied the expression pattern of MYCN at different stages of human embryonic development...
Eur. J. Hum. Genet. - issue: 5 - volume: 19 - pages: 602-606.

de Pontual, L.  et al. 2011

Germline gain-of-function mutations of ALK disrupt central nervous system development

Neuroblastoma (NB) is a frequent embryonal tumor of sympathetic ganglia and adrenals with extremely variable outcome. Recently, somatic amplification and gain-of-function mutations of the anaplastic...
Hum. Mutat. - issue: 3 - volume: 32 - pages: 272-276.

Thomas, S.  et al. 2010

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

Rare lethal disease gene identification remains a challenging issue, but it is amenable to new techniques in high-throughput sequencing (HTS). Cerebral proliferative glomeruloid vasculopathy (PGV), or...
Hum. Mutat. - issue: 10 - volume: 31 - pages: 1134-1141.

Chaabouni, M.  et al. 2010

Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment

PURPOSE: Anterior segment ocular dysgenesis (ASOD) is a broad heterogeneous group of diseases detectable at the clinical and molecular level. In a patient with bilateral congenital ASOD including...
Invest. Ophthalmol. Vis. Sci. - issue: 9 - volume: 51 - pages: 4380-4386.

Bessières-Grattagliano, B.  et al. 2009

Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases

Cerebral proliferative glomeruloid vasculopathy (PGV) is a severe disorder of brain angiogenesis, resulting in abnormally thickened and aberrant perforating vessels, forming glomeruloids with...
Eur J Med Genet - issue: 6 - volume: 52 - pages: 386-392.

de Pontual, L.  et al. 2009

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Hirschsprung disease (HSCR) is a common, multigenic neurocristopathy characterized by incomplete innervation along a variable length of the gut. The pivotal gene in isolated HSCR cases, either...
Proc. Natl. Acad. Sci. U.S.A. - issue: 33 - volume: 106 - pages: 13921-13926.

Boissel, S.  et al. 2009

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

FTO is a nuclear protein belonging to the AlkB-related non-haem iron- and 2-oxoglutarate-dependent dioxygenase family. Although polymorphisms within the first intron of the FTO gene have been...
Am. J. Hum. Genet. - issue: 1 - volume: 85 - pages: 106-111.

Chassaing, N.  et al. 2009

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

Matthew-Wood, Spear, PDAC or MCOPS9 syndrome are alternative names used to refer to combinations of microphthalmia/anophthalmia, malformative cardiac defects, pulmonary dysgenesis, and diaphragmatic...
Hum. Mutat. - issue: 5 - volume: 30 - pages: E673-681.

de Pontual, L.  et al. 2009

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

Pitt-Hopkins syndrome is a severe congenital encephalopathy recently ascribed to de novo heterozygous TCF4 gene mutations. We report a series of 13 novel PHS cases with a TCF4 mutation and show that...
Hum. Mutat. - issue: 4 - volume: 30 - pages: 669-676.

Benko, S.  et al. 2009

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Pierre Robin sequence (PRS) is an important subgroup of cleft palate. We report several lines of evidence for the existence of a 17q24 locus underlying PRS, including linkage analysis results, a...
Nat. Genet. - issue: 3 - volume: 41 - pages: 359-364.

Sajedi, E.  et al. 2008

Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism

A homozygous substitution of the highly conserved isoleucine at position 26 by threonine (I26T) in the transcriptional repressor HESX1 has been associated with anterior pituitary hypoplasia in a human...
Dis Model Mech - issue: 4-5 - volume: 1 - pages: 241-254.

Thomas, S.  et al. 2008

Human neural crest cells display molecular and phenotypic hallmarks of stem cells

The fields of both developmental and stem cell biology explore how functionally distinct cell types arise from a self-renewing founder population. Multipotent, proliferative human neural crest cells...
Hum. Mol. Genet. - issue: 21 - volume: 17 - pages: 3411-3425.

Lequeux, L.  et al. 2008

Confirmation of RAX gene involvement in human anophthalmia

Microphthalmia and anophthalmia are at the severe end of the spectrum of abnormalities in ocular development. Mutations in several genes have been involved in syndromic and non-syndromic anophthalmia....
Clin. Genet. - issue: 4 - volume: 74 - pages: 392-395.

de Pontual, L.  et al. 2007

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma

Neuroblastoma (NB), an embryonic tumour originating from neural crest cells, is one of the most common solid tumours in childhood. Although NB is characterised by numerous recurrent, large-scale...
Eur. J. Cancer - issue: 16 - volume: 43 - pages: 2366-2372.

Golzio, C.  et al. 2007

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6

Retinoic acid (RA) is a potent teratogen in all vertebrates when tight homeostatic controls on its endogenous dose, location, or timing are perturbed during early embryogenesis. STRA6 encodes an...
Am. J. Hum. Genet. - issue: 6 - volume: 80 - pages: 1179-1187.

Etchevers, H.  et al. 2007

[Genetic and molecular bases of neurocristopathies]


Arch Pediatr - issue: 6 - volume: 14 - pages: 668-672.

Baala, L.  et al. 2007

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

Neural progenitor proliferation and migration influence brain size during neurogenesis. We report an autosomal recessive microcephaly syndrome cosegregating with a homozygous balanced translocation...
Nat. Genet. - issue: 4 - volume: 39 - pages: 454-456.

Martinovic-Bouriel, J.  et al. 2007

Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2

We describe two fetal cases of microphthalmia/anophthalmia, pulmonary agenesis, and diaphragmatic defect. This rare association is known as Matthew-Wood syndrome (MWS; MIM 601186) or by the acronym...
Am. J. Med. Genet. A - issue: 3 - volume: 143A - pages: 219-228.

Etchevers, HC.  et al. 2006

Molecular bases of human neurocristopathies


Adv. Exp. Med. Biol. - issue: - volume: 589 - pages: 213-234.

Golzio, C.  et al. 2006

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

BACKGROUND: Homogeneous and complete trisomy 8 is extremely rare. With one recent neonatal exception, all reported cases have been mosaic, due to mitotic non-disjunction during early zygotic...
Prenat. Diagn. - issue: 13 - volume: 26 - pages: 1201-1205.

Sanlaville, D.  et al. 2006

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

BACKGROUND: The acronym CHARGE refers to a non-random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth and/or development, genital anomalies, and...
J. Med. Genet. - issue: 3 - volume: 43 - pages: 211-217.

Etchevers, HC.  et al. 2005

The cap 'n' collar family member NF-E2-related factor 3 (Nrf3) is expressed in mesodermal derivatives of the avian embryo

NF-E2-related factor 3 (Nrf3) is a recently identified member of a family of transcription factors homologous to the Drosophila "cap 'n' collar" or CNC protein. The cnc gene is located immediately 3'...
Int. J. Dev. Biol. - issue: 2-3 - volume: 49 - pages: 363-367.

Cortese, K.  et al. 2005

The Ocular Albinism Type 1 (OA1) Gene Controls Melanosome Maturation and Size


- issue: 12 - volume: 46 - pages: 4358-4364.

Deak, KL.  et al. 2005

SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects

Neural tube defects (NTDs) are common birth defects, occurring in approximately 1/1,000 births; both genetic and environmental factors are implicated. To date, no major genetic risk factors have been...
Hum. Genet. - issue: 2-3 - volume: 117 - pages: 133-142.

Detrait, E.  et al. 2005

[Vascularization of the head and neck during development]

One of the earliest priorities of the embryonic vascular system is to ensure the metabolic needs of the head. This review covers some of the principles that govern the cellular assembly and...
J Neuroradiol - issue: 3 - volume: 32 - pages: 147-156.

Detrait, ER.  et al. 2005

Human neural tube defects: developmental biology, epidemiology, and genetics

Birth defects (congenital anomalies) are the leading cause of death in babies under 1 year of age. Neural tube defects (NTD), with a birth incidence of approximately 1/1000 in American Caucasians, are...
- issue: - volume: - pages: .

Cai, J.  et al. 2005

Gene expression in pharyngeal arch 1 during human embryonic development

Craniofacial abnormalities are one of the most common birth defects in humans, but little is known about the human genes that control these important developmental processes. To identify relevant...
Hum. Mol. Genet. - issue: 7 - volume: 14 - pages: 903-912.

Karmous-Benailly, H.  et al. 2005

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by postaxial polydactyly, progressive retinal dystrophy, obesity, hypogonadism, renal dysfunction, and learning difficulty. Other...
Am. J. Hum. Genet. - issue: 3 - volume: 76 - pages: 493-504.

Trueba, SS.  et al. 2005

PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations

Thyroid dysgenesis (TD) is responsible for most cases of congenital hypothyroidism, a condition that affects about one in 4000 newborns. Mutations in PAX8, TITF1, or FOXE1 may account for congenital...
J. Clin. Endocrinol. Metab. - issue: 1 - volume: 90 - pages: 455-462.

Pinson, L.  et al. 2004

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome


J. Med. Genet. - issue: 5 - volume: 41 - pages: 381-386.

Amiel, J.  et al. 2003

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Congenital central hypoventilation syndrome (CCHS or Ondine's curse; OMIM 209880) is a life-threatening disorder involving an impaired ventilatory response to hypercarbia and hypoxemia. This core...
Nat. Genet. - issue: 4 - volume: 33 - pages: 459-461.

Etchevers, HC.  et al. 2003

Early expression of hypoxia-inducible factor 1alpha in the chicken embryo

Hypoxia is known to regulate angiogenesis and tissue growth by the induction of the alpha subunit of the heterodimeric transcription factor, hypoxia-inducible factor 1. The expression pattern of...
Gene Expr. Patterns - issue: 1 - volume: 3 - pages: 49-52.

Etchevers, HC.  et al. 2002

Morphogenesis of the branchial vascular sector

The branchial and dorsal cephalic vascular sectors correspond to the blood vessels contained within evolutionarily recent and ancestral parts of the head, respectively. Recent work demonstrates that...
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Etchevers, HC.  et al. 2001

The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain

Most connective tissues in the head develop from neural crest cells (NCCs), an embryonic cell population present only in vertebrates. We show that NCC-derived pericytes and smooth muscle cells are...
Development - issue: 7 - volume: 128 - pages: 1059-1068.

Duprez, D.  et al. 1999

Expression of Frzb-1 during chick development

We cloned the chick homolog of Xenopus and mouse Frzb-1, a secreted Wnt antagonist and performed in situ hybridizations to determine the pattern of cFrzb-1 expression in the developing chick embryo....
Mech. Dev. - issue: 1-2 - volume: 89 - pages: 179-183.

Etchevers, HC.  et al. 1999

Anterior cephalic neural crest is required for forebrain viability

The prosencephalon, or embryonic forebrain, grows within a mesenchymal matrix of local paraxial mesoderm and of neural crest cells (NCC) derived from the posterior diencephalon and mesencephalon. Part...
Development - issue: 16 - volume: 126 - pages: 3533-3543.

Center for History and New Media, .  et al. 0

Zotero Quick Start Guide


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Vogel I, .  et al. 0

Vogt J

Banka S
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Transdermal Metformin Therapy - An Innovative Delivery Approach!


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Lavado, A.  et al. 0

New animal models to study the role of tyrosinase in normal retinal development

Albino animals display a hypopigmented phenotype associated with several visual abnormalities, including rod photoreceptor cell deficits, abnormal patterns of connections between the eye and the brain...
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Mnookin, S.  et al. 0

Fighting a One-of-a-Kind Disease : The New Yorker


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PubMed - issue: - volume: - pages: eng.

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Multiple congenital malformations arise from somatic mosaicism for constitutively active Pik3ca signaling


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