Cost‐Effective Identification of Hepatocellular Carcinoma from Cirrhosis or Chronic Hepatitis Virus Infection Using Eight Methylated Plasma DNA Markers

Abstract Early detection of hepatocellular carcinoma (HCC) in patients with liver cirrhosis (LC) and/or hepatitis virus B/C infection (HVI) improves survival, highlighting the need for accurate, affordable diagnostic tools. Here, 11 methylated DNA markers (MDMs) are identified during marker discover...

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Main Authors: Tian Yang, Mingda Wang, Nanya Wang, Mingxin Pan, Yu Xu, Qiancheng You, Lanqing Yao, Jiahao Xu, Lihui Gu, Xiaodong Sun, Lei Zhang, Jiayue Xu, Bingsi Li, Guoqiang Wang, Shangli Cai, Guoyue Lv, Feng Shen
Format: Article
Language:English
Published: Wiley 2025-05-01
Series:Advanced Science
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Online Access:https://doi.org/10.1002/advs.202411945
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author Tian Yang
Mingda Wang
Nanya Wang
Mingxin Pan
Yu Xu
Qiancheng You
Lanqing Yao
Jiahao Xu
Lihui Gu
Xiaodong Sun
Lei Zhang
Jiayue Xu
Bingsi Li
Guoqiang Wang
Shangli Cai
Guoyue Lv
Feng Shen
author_facet Tian Yang
Mingda Wang
Nanya Wang
Mingxin Pan
Yu Xu
Qiancheng You
Lanqing Yao
Jiahao Xu
Lihui Gu
Xiaodong Sun
Lei Zhang
Jiayue Xu
Bingsi Li
Guoqiang Wang
Shangli Cai
Guoyue Lv
Feng Shen
author_sort Tian Yang
collection DOAJ
description Abstract Early detection of hepatocellular carcinoma (HCC) in patients with liver cirrhosis (LC) and/or hepatitis virus B/C infection (HVI) improves survival, highlighting the need for accurate, affordable diagnostic tools. Here, 11 methylated DNA markers (MDMs) are identified during marker discovery. In phase I, each selected MDM is validated in 175 plasma samples (HCC, n = 85; LC/HVI, n = 72) by the CO‐methylation aMplification rEal‐Time PCR (COMET) assay. Of these, 8 MDMs are qualified for phase II study, where a logistic regression model (COMET‐LR) is trained and validated with 336 plasma samples (HCC, n = 211; LC/HVI, n = 113; training vs validation, 2:1). In the validation, the COMET‐LR achieved 90.0% sensitivity at 97.4% specificity. Notably, sensitivity in patients with TNM stage I, diameter<3 cm, AFP‐negative (<20 ng mL−1), PIVKA‐II‐negative (<40 mAU mL−1) is 82.4%, 77.8%, 88.6%, and 85.7%, respectively. The COMET‐LR outperformed multiple protein markers (AFP, AFP‐L3, and PIVKA‐II) and published scores for HCC screening (GALAD, Doylestown, and ASAP), in terms of both sensitivity and specificity. The assay represents a significant advancement in addressing the unmet need for accurate, non‐invasive, accessible, and cost‐effective early detection tools for LC/HVI individuals. Further validation in a prospective cohort is warranted.
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spelling doaj-art-2aadaaf247d34f308cc2c0f6bc2fb31f2025-08-20T01:52:42ZengWileyAdvanced Science2198-38442025-05-011219n/an/a10.1002/advs.202411945Cost‐Effective Identification of Hepatocellular Carcinoma from Cirrhosis or Chronic Hepatitis Virus Infection Using Eight Methylated Plasma DNA MarkersTian Yang0Mingda Wang1Nanya Wang2Mingxin Pan3Yu Xu4Qiancheng You5Lanqing Yao6Jiahao Xu7Lihui Gu8Xiaodong Sun9Lei Zhang10Jiayue Xu11Bingsi Li12Guoqiang Wang13Shangli Cai14Guoyue Lv15Feng Shen16Department of Hepatobiliary Surgery Eastern Hepatobiliary Surgery Hospital Naval Medical University Shanghai 200438 ChinaDepartment of Hepatobiliary Surgery Eastern Hepatobiliary Surgery Hospital Naval Medical University Shanghai 200438 ChinaDepartment of Hepatobiliary and Pancreatic Surgery General Surgery Center First Hospital of Jilin University Changchun Jilin 130021 ChinaDepartment of Hepatobiliary Surgery II General Surgery Center Zhujiang Hospital Southern Medical University Guangzhou 510280 ChinaBurning Rock Biotech Guangzhou 510300 ChinaBurning Rock Biotech Guangzhou 510300 ChinaDepartment of Hepatobiliary Surgery Eastern Hepatobiliary Surgery Hospital Naval Medical University Shanghai 200438 ChinaDepartment of Hepatobiliary Surgery Eastern Hepatobiliary Surgery Hospital Naval Medical University Shanghai 200438 ChinaDepartment of Hepatobiliary Surgery Eastern Hepatobiliary Surgery Hospital Naval Medical University Shanghai 200438 ChinaDepartment of Hepatobiliary and Pancreatic Surgery General Surgery Center First Hospital of Jilin University Changchun Jilin 130021 ChinaBurning Rock Biotech Guangzhou 510300 ChinaBurning Rock Biotech Guangzhou 510300 ChinaBurning Rock Biotech Guangzhou 510300 ChinaBurning Rock Biotech Guangzhou 510300 ChinaBurning Rock Biotech Guangzhou 510300 ChinaDepartment of Hepatobiliary and Pancreatic Surgery General Surgery Center First Hospital of Jilin University Changchun Jilin 130021 ChinaDepartment of Hepatobiliary Surgery Eastern Hepatobiliary Surgery Hospital Naval Medical University Shanghai 200438 ChinaAbstract Early detection of hepatocellular carcinoma (HCC) in patients with liver cirrhosis (LC) and/or hepatitis virus B/C infection (HVI) improves survival, highlighting the need for accurate, affordable diagnostic tools. Here, 11 methylated DNA markers (MDMs) are identified during marker discovery. In phase I, each selected MDM is validated in 175 plasma samples (HCC, n = 85; LC/HVI, n = 72) by the CO‐methylation aMplification rEal‐Time PCR (COMET) assay. Of these, 8 MDMs are qualified for phase II study, where a logistic regression model (COMET‐LR) is trained and validated with 336 plasma samples (HCC, n = 211; LC/HVI, n = 113; training vs validation, 2:1). In the validation, the COMET‐LR achieved 90.0% sensitivity at 97.4% specificity. Notably, sensitivity in patients with TNM stage I, diameter<3 cm, AFP‐negative (<20 ng mL−1), PIVKA‐II‐negative (<40 mAU mL−1) is 82.4%, 77.8%, 88.6%, and 85.7%, respectively. The COMET‐LR outperformed multiple protein markers (AFP, AFP‐L3, and PIVKA‐II) and published scores for HCC screening (GALAD, Doylestown, and ASAP), in terms of both sensitivity and specificity. The assay represents a significant advancement in addressing the unmet need for accurate, non‐invasive, accessible, and cost‐effective early detection tools for LC/HVI individuals. Further validation in a prospective cohort is warranted.https://doi.org/10.1002/advs.202411945chronic hepatitis virus infectionearly detectionhepatocellular carcinomaliver cirrhosismethylated plasma DNA marker
spellingShingle Tian Yang
Mingda Wang
Nanya Wang
Mingxin Pan
Yu Xu
Qiancheng You
Lanqing Yao
Jiahao Xu
Lihui Gu
Xiaodong Sun
Lei Zhang
Jiayue Xu
Bingsi Li
Guoqiang Wang
Shangli Cai
Guoyue Lv
Feng Shen
Cost‐Effective Identification of Hepatocellular Carcinoma from Cirrhosis or Chronic Hepatitis Virus Infection Using Eight Methylated Plasma DNA Markers
Advanced Science
chronic hepatitis virus infection
early detection
hepatocellular carcinoma
liver cirrhosis
methylated plasma DNA marker
title Cost‐Effective Identification of Hepatocellular Carcinoma from Cirrhosis or Chronic Hepatitis Virus Infection Using Eight Methylated Plasma DNA Markers
title_full Cost‐Effective Identification of Hepatocellular Carcinoma from Cirrhosis or Chronic Hepatitis Virus Infection Using Eight Methylated Plasma DNA Markers
title_fullStr Cost‐Effective Identification of Hepatocellular Carcinoma from Cirrhosis or Chronic Hepatitis Virus Infection Using Eight Methylated Plasma DNA Markers
title_full_unstemmed Cost‐Effective Identification of Hepatocellular Carcinoma from Cirrhosis or Chronic Hepatitis Virus Infection Using Eight Methylated Plasma DNA Markers
title_short Cost‐Effective Identification of Hepatocellular Carcinoma from Cirrhosis or Chronic Hepatitis Virus Infection Using Eight Methylated Plasma DNA Markers
title_sort cost effective identification of hepatocellular carcinoma from cirrhosis or chronic hepatitis virus infection using eight methylated plasma dna markers
topic chronic hepatitis virus infection
early detection
hepatocellular carcinoma
liver cirrhosis
methylated plasma DNA marker
url https://doi.org/10.1002/advs.202411945
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