多发性内分泌腺瘤病2型(multiple endocrine neoplasia type 2,MEN2)为常染色体显性遗传病,外显率较高[1]。根据临床表现、病理特点和分子遗传学的不同,临床分为3种亚型:MEN2A、MEN2B及家族性甲状腺髓样癌(medullary thyroid carcinoma,MTC),在临床上较少见。MEN2B型约占所有MEN2患者的5%至10%,但是该类型患者的MTC却具有侵袭性高,发病年龄早 Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant disease with a high penetrance [1]. According to the clinical manifestations, pathological features and molecular genetics, the clinical subtype is divided into three subtypes: MEN2A, MEN2B and familial medullary thyroid carcinoma (MTC), less common in clinical practice. MEN2B type accounts for about 5% to 10% of all MEN2 patients, but this type of patients with MTC has aggressive, early onset