• Clinical science

Multiple endocrine neoplasia

Abstract

Multiple endocrine neoplasia (MEN) is a term used to describe three autosomal dominant syndromes that are associated with certain hormone-producing neoplasias. There are three subtypes: MEN 1, MEN 2A and MEN 2B. MEN 1 is caused by an altered menin protein expression and presents with primary hyperparathyroidism, often in association with endocrine pancreatic tumors and/or pituitary adenomas. MEN 2A and MEN 2B are caused by a mutated RET proto-oncogene and both present with medullary thyroid carcinoma and sometimes pheochromocytoma. MEN 2A is further associated with primary hyperparathyroidism as well, while MEN 2B causes a marfanoid habitus and sometimes neurinomas. If any of the individual conditions associated with MEN are suspected, especially in patients with a positive family history, it is important to consider a diagnostic workup for any of the other associations. Specific diagnostic and management approaches can be found within the learning cards for each of the individual conditions. Family members of MEN patients should receive genetic counseling. Those positive for mutated genes should be closely monitored and should undergo a total thyroidectomy if positive for the RET proto-oncogene.

Overview

MEN 1 MEN 2
MEN 2A MEN 2B
Wermer syndrome Sipple syndrome
Genetics
  • Altered menin protein expression
Main disease
Further manifestations
  • Multiple neurinomas (mucosal neuroma, intestinal ganglioneuromatosis )
  • Marfanoid habitus (> 95%)

Management

MEN 1: 3 "P"s = Parathyroid, Pancreas, Pituitary gland

MEN 2A: 1 "M", 2 "P”s = Medullary thyroid carcinoma, Pheochromocytoma, Parathyroid

MEN 2B: 2 “M”s, 1 “P” = Medullary thyroid carcinoma, Marfanoid habitus/Multiple neuromas, Pheochromocytoma

References:[1][2][3][4][5][6]