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Background <p>Telomerase reverse transcriptase (<i>TERT</i>) promoter mutations are among the most common noncoding genetic lesions in various cancers, including hepatocellular carcinoma (HCC). The clinical and pathological implications of hepatitis B virus (HBV)–related HCC patients carrying promoter mutations are only partially resolved.</p> Methods <p>A nested real–time PCR assay was optimized to detect C228T <i>TERT</i> gene promoter mutation (C228T) from plasma samples with a detection limit of 0.1%. The established assay was used to investigate the association of the C228T with the clinical presentation of HBV–related HCC patients.</p> Results <p>The C228T was detected only in the HCC group (<i>n</i> = 40/159, 25.2%), not in the other control groups (<i>n</i> = 0/160). The mutation rate was significantly higher in HCC patients with low albumin concentration, increased direct bilirubin, abdominal lymphadenopathy, and portal vein thrombosis, compared with HCC patients without these factors (<i>p</i> &lt; 0.05); the mutation rate also increased progressively with more advanced stages (<i>p</i> &lt; 0.05) and was significantly associated with shorter overall survival (OS).</p> Conclusion <p>The C228T is associated with advanced stages, poorer liver function, and shorter overall survival; hence, it could be used as a novel biomarker for the prognosis of HBV–related HCC patients.</p>

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Blood circulating C228T TERT gene promoter mutation is an independent factor for the prognosis of HBV–related hepatocellular carcinoma

  • 期刊论文

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  • 发表日期：

    2026年6月3日

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  • Pham Quang Trung,
  • Pham Chau,
  • Duong Quang Huy,
  • Nghiem Xuan Hoan,
  • Julien Reboud,
  • Nguyen Linh Toan,
  • Le Huu Song,
  • Ngo Tat Trung

摘要

Background

Telomerase reverse transcriptase (TERT) promoter mutations are among the most common noncoding genetic lesions in various cancers, including hepatocellular carcinoma (HCC). The clinical and pathological implications of hepatitis B virus (HBV)–related HCC patients carrying promoter mutations are only partially resolved.

Methods

A nested real–time PCR assay was optimized to detect C228T TERT gene promoter mutation (C228T) from plasma samples with a detection limit of 0.1%. The established assay was used to investigate the association of the C228T with the clinical presentation of HBV–related HCC patients.

Results

The C228T was detected only in the HCC group (n = 40/159, 25.2%), not in the other control groups (n = 0/160). The mutation rate was significantly higher in HCC patients with low albumin concentration, increased direct bilirubin, abdominal lymphadenopathy, and portal vein thrombosis, compared with HCC patients without these factors (p < 0.05); the mutation rate also increased progressively with more advanced stages (p < 0.05) and was significantly associated with shorter overall survival (OS).

Conclusion

The C228T is associated with advanced stages, poorer liver function, and shorter overall survival; hence, it could be used as a novel biomarker for the prognosis of HBV–related HCC patients.