Pathogenic effects of telomerase reverse transcriptase (TERT) promoter mutations in nonalcoholic steatohepatitis (NASH) related hepatocellular carcinoma (HCC) and its potentials as a diagnostic biomarker

Abstract

Background

Hepatocellular carcinoma (HCC) is the most common type of liver cancer globally due to its diverse aetiologies, poor diagnosis and prognosis as well as low survival rate. Nonalcoholic steatohepatitis-related HCC (NASH-HCC), the progressive form of nonalcoholic fatty liver, is the most prevalent subtype of HCC in this century, and genetic predisposition significantly influences its pathogenesis. Several genes associated with NASH–HCC development have been recently studied. One key regulatory gene is the TERT gene encoding for the TERT protein.

Main body of the abstract

Hence, the goal of this mini-review is to present the most recent findings about TERT promoter mutations, the mechanism of upregulation of TERT gene expression, the downstream mechanism of promoting NASH-HCC, and its potential as a NASH-HCC diagnostic biomarker.

Conclusion

Relevant and up-to-date findings were presented in this review, but more thorough researches in multi-ethnic and diver population are needed to determine the prevalence of TERT promoter mutations, its gene expression levels and their potentiality as early diagnostic molecular biomarkers with application in clinical settings.