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

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 transfor...

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Bibliographic Details
Published in:Nature communications Vol. 4; no. 1; p. 2218
Main Authors: Nault, Jean Charles, Mallet, Maxime, Pilati, Camilla, Calderaro, Julien, Bioulac-Sage, Paulette, Laurent, Christophe, Laurent, Alexis, Cherqui, Daniel, Balabaud, Charles, Zucman-Rossi, Jessica
Format: Journal Article
Language:English
Published: London Nature Publishing Group UK 26.07.2013
Nature Publishing Group
Nature Pub. Group
Subjects:
631/208/68
631/67/1504/1610
Adenoma, Liver Cell - genetics
Adenoma, Liver Cell - metabolism
Adenoma, Liver Cell - pathology
Aged
Base Sequence
beta Catenin - genetics
beta Catenin - metabolism
Carcinoma, Hepatocellular - genetics
Carcinoma, Hepatocellular - metabolism
Carcinoma, Hepatocellular - pathology
Female
Gene Expression
Humanities and Social Sciences
Humans
Lesions
Liver - metabolism
Liver - pathology
Liver Cirrhosis - genetics
Liver Cirrhosis - metabolism
Liver Cirrhosis - pathology
Liver Neoplasms - genetics
Liver Neoplasms - metabolism
Liver Neoplasms - pathology
Male
Middle Aged
Molecular Sequence Data
multidisciplinary
Mutation
Precancerous Conditions - genetics
Precancerous Conditions - metabolism
Precancerous Conditions - pathology
Promoter Regions, Genetic
RNA, Messenger - genetics
RNA, Messenger - metabolism
Science
Science (multidisciplinary)
Telomerase - genetics
Telomerase - metabolism
ISSN:2041-1723, 2041-1723
Online Access:Get full text
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Summary: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. Telomerase reverse-trancriptase promoter mutations have been recently found in human melanomas. Here, Nault et al. identify telomerase reverse-trancriptase promoter mutations as the most frequent somatic genetic alterations in hepatocellular carcinomas and as the first mutation identified in cirrhotic preneoplastic lesions.
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ISSN:2041-1723
2041-1723
DOI:10.1038/ncomms3218