multiple endocrine neoplasia type 2

Multiple Endocrine Neoplasia type 2 (MEN2) is a rare, inherited disorder characterized by tumors in multiple endocrine glands. It is primarily associated with medullary thyroid carcinoma, which arises from the C cells of the thyroid gland. MEN2 also frequently involves pheochromocytomas (tumors of the adrenal glands) and, less commonly, hyperparathyroidism.

MEN2 is caused by mutations in the RET proto-oncogene. These mutations lead to constant activation of the gene, promoting uncontrolled cell growth and tumor formation. Medullary thyroid carcinoma is nearly always the first manifestation of MEN2 and can occur even in young children. Early detection through genetic testing and prophylactic thyroidectomy is crucial for individuals carrying RET mutations to prevent the development of this cancer.12