TERT启动子突变在甲状腺癌中的研究进展

Research progress of TERT promoter mutation in thyroid cancer

甲状腺癌是内分泌系统常见的肿瘤之一,其发病率逐年上升。端粒酶逆转录酶(telomerase reverse transcriptase,TERT)启动子突变(C228T,C250T)自2013年在甲状腺癌中被发现以来,其与甲状腺癌的关系即被广泛研究。绝大多数研究认为该突变与甲状腺癌的发生及临床病理特征以及不良预后息息相关,该突变为甲状腺癌致病基因突变。本文对TERT启动子突变在不同类型甲状腺癌中的发生及其临床意义进行综述,以期为TERT启动子突变在甲状腺癌中的研究及甲状腺癌的分子诊治提供新思路。

Thyroid cancer is a common endocrine malignancy and its morbidity raised rapidly in recent years.The association between TERT promoter mutations （C228T,C250T） and clinical outcomes have been investigated since they were confirmed in thyroid cancer （including differentiated thyroid cancer and anaplastic thyroid cancer） in 2013.Most studies suggest the mutations are associated with thyroid cancer,the clinical outcomes and poor prognosis.The two mutations are considered to be oncogenic mutations.In order to provide a new sight into the research of TERT promoter mutation,diagnosis and treatment of thyroid cancer,we summarized the incidence of TERT promoter mutation in different types of thyroid cancer and the clinical relevance of these mutations.