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Ma et al. Hepatoma Res 2019;5:8 Hepatoma Research
DOI: 10.20517/2394-5079.2018.104

Review Open Access

Telomerase reverse transcriptase promoter
mutations in hepatocellular carcinogenesis

Zi-Xian Ma , Chun-Mei Yang , Meng-Ge Li, Hong Tu
#
#
State Key Laboratory of Oncogenes and Related Genes, Shanghai Cancer Institute, Renji Hospital, Shanghai Jiao Tong University
School of Medicine, Shanghai 200032, China.
# Both authors contributed equally to this work.

Correspondence to: Dr. Hong Tu, Shanghai Cancer Institute, Renji Hospital, Shanghai Jiao Tong University School of Medicine, 2200/25,
Xie-Tu Road, Shanghai 200032, China. E-mail: tuhong@shsci.org

How to cite this article: Ma ZX, Yang CM, Li MG, Tu H. Telomerase reverse transcriptase promoter mutations in hepatocellular
carcinogenesis. Hepatoma Res 2019;5:8. http://dx.doi.org/10.20517/2394-5079.2018.104

Received: 4 Oct 2018 First Decision: 20 Nov 2018 Revised: 22 Jan 2019 Accepted: 22 Jan 2019 Published: 18 Mar 2019

Science Editor: Guang-Wen Cao Copy Editor: Cai-Hong Wang Production Editor: Huan-Liang Wu

Abstract
Through several studies exploiting next-generation sequencing, we are obtaining a clearer picture of the complex
genetic and molecular landscape of hepatocellular carcinoma (HCC). Consistent with the findings of other cancer types,
telomerase reverse transcriptase (TERT) promoter mutations have been frequently reported in HCC. C228T and C250T
are two major types of hot spot mutations in the TERT promoter region. Besides, in hepatitis B virus (HBV)-related HCC
cases, the TERT promoter is recurrently interrupted by integration of HBV DNA. TERT promoter mutations are thought to
be an early event in HCC carcinogenesis, and they are significantly associated with disease progression. In this review, we
provide an updated overview of the somatic mutations in the TERT promoter region and discuss their possible roles in the
development of HCC.

Keywords: Hepatocellular carcinoma, telomerase reverse transcriptase, mutation, hepatitis B virus

INTRODUCTION
Hepatocellular carcinoma (HCC) is one of the most common and deadliest cancers worldwide, ranking
[1,2]
fifth and ninth in incidence, and second and sixth in mortality for males and females, respectively . So far,
only three molecular targeted agents, including sorafenib, lenvatinib and regorafenib, have been approved
[3,4]
by the Food and Drug Administration for the treatment of HCC , and they only extend median survival
[5]
by a few weeks to months . Therefore, more research is needed to fill the gaps in knowledge of the genetic
© The Author(s) 2019. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use,
sharing, adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as long
as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license,
and indicate if changes were made.

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