Abstract

Hereditary endocrine tumors are a group of genetically inherited disorders characterized by the development of tumors in multiple endocrine organs. Among these, multiple endocrine neoplasia type 1 (MEN1) and multiple endocrine neoplasia type 2 (MEN2) are the most well-studied syndromes, each associated with specific genetic mutations and tumor profiles. MEN1 results from mutations in the MEN1 gene and primarily affects the parathyroid, pancreas, and pituitary glands. MEN2, caused by mutations in the RET proto-oncogene, is further classified into MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC), with medullary thyroid carcinoma as a hallmark feature. Other familial syndromes, such as von Hippel-Lindau (VHL) disease, pheochromocytoma-paraganglioma syndromes, and Carney complex, also contribute to hereditary endocrine tumor pathogenesis. Advances in genetic testing, early screening, and targeted therapies have significantly improved patient outcomes. This review provides an overview of the genetic basis, clinical presentation, diagnostic approaches, and treatment strategies for MEN1, MEN2, and related familial endocrine tumor syndromes.