Mutation screening of RET proto-oncogene in a family with medullary thyroid carcinoma, marfanoid habitus and pheochromocytoma; from clinically MEN2B to genetically MEN2A syndrome

摘要

Multiple endocrine neoplasia type 2 (MEN2) is sub-classified into three syndromes: MEN2A; MEN2B; and familial medullary thyroid cancer (FMTC). MEN2A is characterized by pheochromocytoma, medullary thyroid carcinoma (MTC), and hyperparathyroidism because of primary parathyroid hyperplasia. MEN2B shares the inherited predisposition to MTC and pheochromocytoma that occurs in MEN2A. However, MEN2B patients typically have a marfanoid habitus (but do not have Marfan's syndrome), mucosal neuromas (typically involving the lips and tongue), and intestinal ganglioneuromatosis.