多发性内分泌肿瘤2型诊治进展

Progress in diagnosis and treatment of multiple endocrine neoplasia type 2

多发性内分泌肿瘤2型(MEN2)是一种家族遗传性多种内分泌肿瘤综合征,以甲状腺髓样癌为主要发病特征,RET原癌基因突变是MEN2的发病基础。对所有的MEN2患者及其家族成员可行RET原癌基因突变检测,可以在分子水平得到早期诊断,早期预防性手术可以达到临床治愈。本文主要综述MEN2与RET原癌基因突变的相关性,进一步总结在无症状RET原癌基因携带者中开展预防性甲状腺全切除术的临床干预策略和针对RET原癌基因病态活化后的治疗干预策略。

Multiple endocrine neoplasia type 2 （MEN2） is a hereditary multiple endocrine neoplasia syndrome, mainly char- acterized by the medullary thyroid carcinoma. The basic etiology of MEN2 is caused by pathogenic mutations of RET proto-oncogene （rearranged during transfection）. All the MEN2 patients and their family members can take RET proto- oneogene mutation detection, the disease can be diagnosed early at the molecular level, then early surgical intervention can achieve good clinical remission. This paper reviews the correlation of MEN2 and RET oncogenie mutations, summa- rizes the therapies designed to strategically interfere with prophylactic thyroidectomy in asymptomatic RET proto-onco- gene carriers and pathologic activation of the RET oncogene.