Optimized digital polymerase chain reaction enables detection of telomerase reverse transcriptase C228T mutation for prognostic assessment in hepatocellular carcinoma

Sep 28, 2026

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Recurrence is a leading driver of poor outcomes in hepatocellular carcinoma, especially in patients with hepatitis B virus infection. Although TERT promoter mutations are the most commonly altered site in HBV-related HCC, their prognostic value remains insufficiently defined. This study assessed the prognostic impact of TERT promoter mutations and the performance of optimized digital PCR. Among 66 post-hepatectomy patients, mutation status was linked to worse survival and higher recurrence risk.

LanguageEnglish

CategoryHealthcare

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Pages20

Reading Time50 min

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Abstract

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| W | J | G | O | World Journal of
Gastrointestinal Oncology | | --- | --- | --- | --- | --- | Submit a Manuscript: [https://www.f6publishing.com](https://www.f6publishing.com) World J Gastrointest Oncol 2025 December 15; 17(12): 113289 DOI: 10.4251/wjgo.v17.i12.113289 ISSN 1948-5204 (online) ORIGINAL ARTICLE Basic Study Optimized digital polymerase chain reaction enables detection of telomerase reverse transcriptase C228T mutation for prognostic assessment in hepatocellular carcinoma Zulihumaer Aizimuaji, Nan Hu, Hai-Yang Li, Xi-Jun Wang, Sheng Ma, Ya-Ru Wang, Rui-Qi Zheng, Zhuo Li, Huan Zhao, Wei-Qi Rong, Ting Xiao Specialty type: Oncology Provenance and peer review: Unsolicited article; Externally peer reviewed. Peer-review model: Single blind Peer-review report’s classification Scientific Quality: Grade C Novelty: Grade C Creativity or Innovation: Grade C Scientific Significance: Grade B P-Reviewer: Tan BB, PhD, Chief Physician, Professor, China Received: August 21, 2025 Revised: September 30, 2025 Accepted: October 29, 2025 Published online: December 15, 2025 Processing time: 112 Days and 18.3 Hours Zulihumaer Aizimuaji, Hai-Yang Li, Xi-Jun Wang, Sheng Ma, Ya-Ru Wang, Rui-Qi Zheng, Ting Xiao, State Key Laboratory of Molecular Oncology, Department of Etiology and Carcinogenesis, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China Nan Hu, Wei-Qi Rong, Department of Hepatobiliary Surgery, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China Zhuo Li, Huan Zhao, Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China Co-first authors: Zulihumaer Aizimuaji and Nan Hu. Co-corresponding authors: Wei-Qi Rong and Ting Xiao. Corresponding author: Wei-Qi Rong, MD, Department of Hepatobiliary Surgery, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 17 Panjiayuan South Lane, Beijing 100021, [China.](China. dr_rongweiqi@163.com)[ dr_rongweiqi@163.com](China. dr_rongweiqi@163.com) Abstract BACKGROUND Recurrence remains the leading cause of poor prognosis in hepatocellular carcinoma (HCC), particularly among patients infected with hepatitis B virus (HBV) . The telomerase reverse transcriptase (TERT) promoter is the most frequently mutated site in HBV-related HCC; however, its prognostic significance isnot fully established. AIM To evaluate the prognostic impact of TERT promoter mutations and efficiency of digital polymerase chain reaction (dPCR) . WJGO [https://www.wjgnet.com](https://www.wjgnet.com) 1 December 15, 2025 Volume 17 Issue 12 Aizimuaji Z et al. TERT C228T mutations to prognose HBV-related HCC patients METHODS A total of 66 HBV-related HCC patients who underwent hepatectomy were enrolled in this study. DNA extracted from fresh tumor tissues was analyzed for TERT promoter mutations using Sanger sequencing and dPCR. The dPCR assay was optimized by adding 7-deaza-dGTP, CviQ1, and ethylenediaminetetraacetic acid to improve detection sensitivity. Concordance between methods was assessed, and nomogram survival prediction models were developed to evaluate prognostic value based on mutation status. RESULTS TERT promoter mutations were detected in 26/66 (39.39%) cases by Sanger sequencing and 30/66 (45.45%) by dPCR. The two methods showed high concordance (93.939%, κ = 0.876), with dPCR demonstrating 100% sensitivity and 90% specificity. Patients harboring TERT promoter mutations exhibited reduced overall survival and higher recurrence risk. Nomogram models

FAQs

What clinical problem does the study address in HBV-related hepatocellular carcinoma?

It targets recurrence-driven poor prognosis and evaluates whether TERT promoter mutation status can improve prognostic assessment after hepatectomy in HBV-related HCC.

How was digital polymerase chain reaction (dPCR) optimized in this work?

The dPCR assay was optimized by adding 7-deaza-dGTP, CviQ1, and EDTA to enhance detection sensitivity.

What were the key findings comparing dPCR with Sanger sequencing?

TERT promoter mutations were detected more often by dPCR than Sanger sequencing, with high concordance between methods. dPCR showed 100% sensitivity and 90% specificity, and TERT-mutant patients had reduced overall survival and higher recurrence risk.

Sep 28, 2026

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