MEN2
Also written as: MEN2 — multiple endocrine neoplasia type 2
Multiple endocrine neoplasia type 2, an inherited syndrome predisposing to medullary thyroid carcinoma and pheochromocytoma.
Full Definition
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant hereditary cancer syndrome caused by germline mutations in the RET proto-oncogene. MEN2 is subdivided into MEN2A and MEN2B, both characterized by predisposition to medullary thyroid carcinoma. MEN2A also includes pheochromocytoma and parathyroid adenomas, while MEN2B includes pheochromocytoma, mucosal neuromas, and marfanoid habitus. Genetic testing for RET mutations is crucial for family screening, and prophylactic thyroidectomy timing is determined by specific mutation risk stratification. Regular biochemical surveillance for catecholamines and calcitonin is essential in mutation carriers.
Usage
Usage note: Distinguish MEN2A from MEN2B by clinical features; always specify subtype when known.
In Context
- "Genetic testing revealed a RET mutation consistent with MEN2A syndrome." — Genetics consultation note
- "Prophylactic thyroidectomy was recommended at age 5 given the high-risk MEN2B mutation." — Pediatric endocrinology note