Searchable abstracts of presentations at key conferences in endocrinology

ea0081ep569 | Endocrine-Related Cancer | ECE2022

Novel pathogenetic mutation of MEN1 gene causing hyperparathyroidism, pancreatic glucagonoma, adrenal adenoma, and collagenomas

Pitino Rosa , Vimercati Davide , Pizzolitto Francesca , Mollero Edoardo Luigi Maria , Daffara Tommaso , Ferrero Alice , Boldorini Renzo , Caputo Marina , Prodam Flavia

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary autosomal dominant tumor syndrome caused by inactivating mutations of the tumor suppressor gene MEN1 which encodes the protein menin. It is characterized by the occurrence of tumors involving two or more endocrine glands, primarily parathyroid, entero-pancreatic, and anterior pituitary, as well as non-endocrine neoplasms. Glucagonomas occur in fewer than 3% of patients with MEN1, causing hyper...