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中国临床药理学与治疗学 ›› 2017, Vol. 22 ›› Issue (3): 350-354.

• 综述与讲座 • 上一篇    下一篇

TERT启动子突变在甲状腺癌中的研究进展

唐新月1,2,石 峰3,黎翠林1,2,刘剑秋1,2,李 智1,2   

  1. 1 中南大学湘雅医院临床药理研究所,长沙 410008,湖南; 2 中南大学临床药理研究所,遗传药理学湖南省重点实验室,长沙 410078,湖南; 3 湖南省肿瘤医院/中南大学湘雅医学院附属肿瘤医院,长沙 410006,湖南
  • 收稿日期:2016-11-09 修回日期:2016-12-22 出版日期:2017-03-26 发布日期:2017-03-29
  • 通讯作者: 李智,男,博士,副教授、硕士生导师,研究方向:药物基因组学与个体化医学。 Tel: 0731-84805380 E-mail: lizhi489@163.com
  • 作者简介:唐新月,女,硕士研究生,研究方向:药物基因组学与个体化医学。 Tel: 0731-84805380 E-mail: xinyue89111@163.com
  • 基金资助:

    国家新药创制重大专项(2012ZX09303013-004);湖南省高校创新平台开放基金项目(13K002)

Research progress of TERT promoter mutation in thyroid cancer

TANG Xinyue 1,2, SHI Feng 3, LI Cuilin 1,2, LIU Jianqiu 1,2, LI Zhi 1,2   

  1. 1 Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410008,Hunan, China; 2 Institute of Clinical Pharmacology, Central South University; Hunan Key Laboratory of Pharmacogenetics, Changsha 410078, Hunan, China; 3 Hunan Cancer Hospital and The Affiliated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha 410006, Hunan, China
  • Received:2016-11-09 Revised:2016-12-22 Online:2017-03-26 Published:2017-03-29

摘要:

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。

关键词: 甲状腺癌, 端粒酶逆转录酶, 启动子突变

Abstract:

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.

Key words: thyroid cancer, telomerase reverse transcriptase, promoter mutation

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