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Nat Commun. 2013;4:2218. doi: 10.1038/ncomms3218.

High frequency of telomerase reverse-transcriptase promoter somatic mutations in hepatocellular carcinoma and preneoplastic lesions.

Author information

1
Inserm, UMR-674, Génomique fonctionnelle des tumeurs solides, IUH, Paris F-75010, France.

Erratum in

  • Nat Commun. 2013;4:2577. Zucman Rossi, Jessica [corrected to Zucman-Rossi, Jessica].

Abstract

Somatic mutations activating telomerase reverse-trancriptase promoter were recently identified in several tumour 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 tumours, telomerase reverse-transcripase- and CTNNB1-activating mutations are significantly associated. Moreover, preliminary data suggest that telomerase reverse-trancriptase promoter mutations can increase the expression of telomerase transcript. In conclusion, telomerase reverse-trancriptase 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.

PMID:
23887712
PMCID:
PMC3731665
DOI:
10.1038/ncomms3218
[Indexed for MEDLINE]
Free PMC Article

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