甲状腺髓样癌中RET原癌基因研究进展

A review on the RET proto-oncogene mutation in medullary thyroid carcinoma

甲状腺髓样癌（medullary thyroid carcinoma,MTC）是由甲状腺滤泡旁细胞起源的一种特殊类型的神经内分泌肿瘤。MTC能够分泌降钙素、血清素、组胺等内分泌活性物质,临床表现为腹泻、潮红等类癌综合征,其临床表现、诊断及治疗都不同于其他类型的甲状腺癌。1 MTC简介及临床分型MTC起源于甲状腺滤泡旁细胞,约占甲状腺恶性肿瘤2%,较之前的3%～5%下降。

Medullary thyroid carcinoma（MTC）is a special type of neuroendocrine tumor originated from Ccells of the thyroid gland,MTC can be divided into sporadic（70%-80%）and hereditary（20%-30%）,about98% of the hereditary MTC patients have RET proto-oncogene germline mutation in exon 10,11,13,14,15,16.The mutation of RET proto oncogene is closely related to the pathogenesis of MTC,and different mutation of RET proto oncogene exon may lead to different MTC phenotypes.More than 100 kinds of mutations in the RET gene were reported.This paper reviews the research progress of RET proto-oncogene mutation in MTC.