The term multiple endocrine neoplasia (MEN) was introduced by Steiner et al. in 1968 to describe disorders that include a combination of endocrine tumors. The Wermer syndrome was designed as MEN 1 and the Sipple syndrome as MEN 2. Sizemore et al. (1974) completed that the MEN 2 category included 2 subgroups: patients with medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid disease and a normal appearance (MEN 2A) and other without parathyroid disease but with mucosal neuromas and mesodermal abnormalities […]

Medullary carcinoma of the thyroid (MTC) may be sporadic or may occur on a hereditary basis. Hereditary MTC can occur either alone

Medullary carcinoma of the thyroid (MTC) may occur either as sporadic (75%) or hereditary (25%) disease. Hereditary MTC can occur either alone – familial MTC (FMTC) – or as the thyroid manifestation of multiple endocrine neoplasia type 2 (MEN2) syndromes (MEN2A and MEN2B) or others. Germline mutations in the Ret proto-oncogene cause MEN2 and recent studies suggest a relationship between specific mutations and different phenotypes in MEN2 syndromes. The purpose of this study was to identify Ret mutations and analyze […]