Searchable abstracts of presentations at key conferences in endocrinology

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...