8360/1 Endocrine adenomatosis



Definitions

An autosomal dominant inherited neoplastic syndrome characterized by the development of various endocrine neoplasms and abnormalities in various anatomic sites. There are three types of multiple endocrine neoplasia recognized:

MEN1 is caused by inactivation of the tumor suppressor gene MEN-1. Patients may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors.

MEN 2A and MEN2B are inherited tumour syndrome with an autosomal dominant trait, caused by germline mutations of the RETgene. Patients MEN2A develop endocrine tumours involving the thyroid, the adrenal, and the parathyroids. MEN 2B may develop phaeochromocytoma, neuromas of the tongue and/or ganglioneuromatosis of the intestine. Familial medullary thyroid carcinoma (FMTC) is also caused by RET mutations and is considered a component of MEN2.