Searchable abstracts of presentations at key conferences in endocrinology

ea0065cc4 | FEATURED CLINICAL CASE POSTERS | SFEBES2019

Multiple endocrine neoplasia type 1 (MEN1) mosaicism caused by a c.124G>A variant in the MEN1 gene

Mauchlen Rachel , Carty David , Talla Maria , Drummond Russell

The MEN1 gene is positioned on the long arm of chromosome 11 (11q13) and results in production of the protein menin. MEN1 mutations produce aberrant menin action or production, although the relationship with tumourigenesis is not clear. Mosaicism is extremely rare, a recent report citing two mosaic cases reported by next generation sequencing1. We describe a 43 year old woman with MEN1 mosaicism associated with parathyroid adenoma and probable pancreatic gastrinoma....