Searchable abstracts of presentations at key conferences in endocrinology

ea0090p539 | Late-Breaking | ECE2023

Somatic RET M918T variant can modify the natural history of MEN2 related medullary thyroid carcinoma: a case report and literature review

Sahakian Nicolas , Romanet Pauline , Cinzia Paladino Nunzia , Mirebeau-Prunier Delphine , Castinetti Frederic , Barlier Anne

Background: Multiple endocrine neoplasia type 2 associated medullary thyroid carcinoma (MTC) is driven by a strong genotype-phenotype correlation, the risk of aggressiveness being defined by the germline RET pathogenic variant (American Thyroid Association (ATA) guidelines). Based on this classification, the germline c.2370G>C, p.Leu790Phe (L790F) RET variant is considered to be of moderate risk of aggressive MTC, while the germline c.2753T>C, p.Met918Thr (M9...

ea0063oc7.4 | Endocrine Connections 1 | ECE2019

Non-invasive detection of GNAS mutations causing McCune-Albright Syndrome with ddPCR on whole blood or circulating DNA

Romanet Pauline , Philibert Pascal , Fina Frederic , Cuny Thomas , Reynaud Rachel , Paris Francoise , Barlier Anne

Context: Postzygotic activating mutations in GNAS are responsive for fibrous dysplasia (FD) and McCune-Albright Syndrome (MAS). MAS is a rare disease associating fibrous dysplasia, to skin pigmentation and endocrine disorders. The classic genetic non-invasive methods are insufficiently sensitive to detect GNAS mutation, due to a low level of mosaicism in blood. Early diagnostic should allow a follow-up and a therapeutic choice adapted to the MAS context in or...

ea0081oc6.3 | Oral Communications 6: Endocrine-Related Cancer | ECE2022

Systematic detection of mosaicism by using digital NGS in a cohort of 119 unresolved MEN1 cases reveals 3 new MEN1 mosaicisms

Lagarde Arnaud , Mougel Gregory , Coppin Lucie , Haissaguerre Magalie , Le Collen Lauriane , Klein Marc , Odou Marie-Francoise , Tabarin Antoine , Brixi Hedia , Delemer Brigitte , Barlier Anne , Romanet Pauline

Context: Mosaicism is a feature of several inherited tumor syndromes but is rarely systematically looked for in routine. MEN1 is an autosomal dominant hereditary syndrome characterized by several endocrine tumors affecting parathyroids, pancreas, and anterior pituitary most of the time, due to inactivating mutations in the MEN1 gene. Few cases of mosaicism in Multiple Endocrine Neoplasia type 1 (MEN1) have been described. MEN1 mosaicism is probably under-diag...

ea0063gp152 | Interdisciplinary Endocrinology 1 | ECE2019

UMD-MEN1 database: analysis of clinical and genetic data from 1,676 patients by the TENGEN network

Romanet Pauline , Giraud Sophie , Odou Marie-francoise , North Marie-Odile , Mohamed Amira , Coppin Lucie , Calender Alain , Borson-Chazot Francoise , Beroud Christophe , Goudet Pierre , Barlier Anne

Context: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene. MEN1 is characterized by a broad spectrum of clinical manifestations, of which the most frequent are primary hyperparathyroidism, pituitary adenomas, and neuroendocrine tumors. MEN1 presents a broad spectrum of variants, including large deletions, and truncating, missense, or splicing point mutations. The genotype-phenotype relationship r...