Multiple endocrine neoplasia type 1: Definition and genetics
- Andrew Arnold, MD
Andrew Arnold, MD
- Murray-Heilig Professor of Molecular Medicine
- University of Connecticut
- Section Editors
- Marc K Drezner, MD
Marc K Drezner, MD
- Section Editor — Bone Disease
- Professor of Medicine
- University of Wisconsin Medical School
- Benjamin A Raby, MD, MPH
Benjamin A Raby, MD, MPH
- Section Editor — Genetics
- Associate Professor of Medicine
- Harvard Medical School
The multiple endocrine neoplasia (MEN) syndromes are rare, but recognition is important both for treatment and for evaluation of family members (table 1).
This topic will review the classification and genetics of the MEN type 1 (MEN1) syndrome (OMIM ID +131100). The clinical manifestations, diagnosis, and therapy of MEN type 1 and the MEN type 2 (MEN2) syndromes are discussed separately. (See "Multiple endocrine neoplasia type 1: Clinical manifestations and diagnosis" and "Multiple endocrine neoplasia type 1: Treatment" and "Classification and genetics of multiple endocrine neoplasia type 2" and "Clinical manifestations and diagnosis of multiple endocrine neoplasia type 2" and "Approach to therapy in multiple endocrine neoplasia type 2".)
Multiple endocrine neoplasia type 1 (MEN1) is a rare heritable disorder classically characterized by a predisposition to tumors of the parathyroid glands, anterior pituitary, and pancreatic islet cells . The presence of MEN1 is defined clinically as the occurrence of two or more primary MEN1 tumor types, or in family members of a patient with a clinical diagnosis of MEN1, the occurrence of one of the MEN1-associated tumors. Multiple parathyroid tumors causing primary hyperparathyroidism are the most common component of MEN1, occurring in nearly all patients by age 50 years, and is the initial manifestation of the disorder in most patients. In one series of 220 patients with MEN1, parathyroid, pituitary glands, and pancreatic islet cell tumors occurred in 95, 30, and 41 percent of affected patients, respectively .
The prevalence of MEN1 is approximately 2 per 100,000 . The incidence ranges from 1 to 18, 16 to 38, and less than 3 percent in patients with parathyroid adenomas, gastrinomas, and pituitary adenomas, respectively .
Patients with MEN1 may have tumors other than those in the parathyroid and pituitary, and pancreatic islet cells. The duodenum is a common site of tumors (gastrinomas) in these patients, and thymic or bronchial carcinoid tumors, enterochromaffin cell-like gastric tumors, adrenocortical adenomas, and lipomas are more frequent than in the general population. Other associated tumors include angiofibromas, angiomyolipomas, and spinal cord ependymomas (table 2).
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