TERT promoter mutations: Gatekeeper and driver of hepatocellular carcinoma

被引：41

作者：

Pinyol, Roser ^{[1
]}

Tovar, Victoria ^{[1
]}

Llovet, Josep M. ^{[1
,2
,3
]}

机构：

[1] Univ Barcelona, Hosp Clin Barcelona, Liver Unit, HCC Translat Res Lab,BCLC Grp,IDIBAPS,CIBERehd, E-08007 Barcelona, Spain

[2] Mt Sinai Sch, Icahn Sch Med, Div Liver Dis, Mt Sinai Liver Canc Program, New York, NY USA

[3] Inst Catalana Recerca & Estudis Avancats, Barcelona, Catalonia, Spain

来源：

JOURNAL OF HEPATOLOGY | 2014年 / 61卷 / 03期

关键词：

D O I：

10.1016/j.jhep.2014.05.028

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Somatic mutations activating telomerase reverse-transcriptase promoter were recently identified in several tumor types. Here we identify frequent similar mutations in human hepatocellular carcinomas (59%), cirrhotic preneoplastic macronodules (25%) and hepatocellular adenomas with malignant transformation in hepatocellular carcinomas (44%). In hepatocellular tumors, telomerase reverse-transcriptase- and CTNNB1-activating mutations are significantly associated. Moreover, preliminary data suggest that telomerase reverse transcriptase promoter mutations can increase the expression of telomerase transcript. In conclusion, telomerase reverse-transcriptase promoter mutation is the earliest recurrent genetic event identified in cirrhotic preneoplastic lesions so far and is also the most frequent genetic alteration in hepatocellular carcinomas, arising from both the cirrhotic or non-cirrhotic liver. (C) 2014 European Association for the Study of the Liver. Published by Elsevier B. V. All rights reserved.

引用

页码：685 / 687

页数：3

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