133 - Multiple Endocrine Neoplasia Type 1

Abstract

Multiple endocrine neoplasia type 1 (MEN1) is characterized by the combined occurrence of parathyroid, duodenopancreatic neuroendocrine tumors, and anterior pituitary adenomas. In addition, some patients develop thymic and bronchopulmonary carcinoids, as well as adrenal tumors. MEN1 is an autosomal dominant disorder that is caused by germline mutations of the tumor suppressor gene MEN1, which encodes a scaffold protein, menin. In the absence of treatment, MEN1 patients have higher morbidity and premature mortality, which may be reduced by earlier detection and treatment of tumors. Identification of such individuals at high risk for MEN1 can be facilitated by genetic testing of patients with MEN1 and their first-degree relatives, as well as by undertaking periodic clinical, biochemical, and radiological screening in patients and MEN1 mutation carriers. Studies of the role of menin have identified its involvement in transcription regulation, genome stability, cell division, proliferation, and epigenetic regulation, and these insights are providing opportunities for targeted approaches for future treatments.