Genetic testing identifies the potential risk of multiple endocrine neoplasia in a Vietnamese family

Abstract

Multiple endocrine neoplasia type 2A (MEN2A) is a rare syndrome characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, hyperparathyroidism and sometimes cutaneous lichen amyloidosis. This syndrome is caused by a germline activation mutation in the rearranged during transfection (RET) proto-oncogene transmitted by an autosomal dominant inheritance. In this study, wc reported a rare case of a 44-year-old man from Vietnam with medullary thyroid carcinoma and pheochromocytoma as the symptom of MEN2A.