| Accession | PRJCA016185 | ||||||||||||||||||||||||||||||||||||||||
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| Title | Early detection and prognosis evaluation for hepatocellular carcinoma by circulating tumor DNA methylation: A multicenter cohort study | ||||||||||||||||||||||||||||||||||||||||
| Relevance | Medical | ||||||||||||||||||||||||||||||||||||||||
| Data types | Epigenomics | ||||||||||||||||||||||||||||||||||||||||
| Organisms | Homo sapiens | ||||||||||||||||||||||||||||||||||||||||
| Description | Hepatocellular carcinoma (HCC) is a leading cause of cancer-related deaths worldwide, and early detection is crucial for improving patient survival. We aimed to develop a blood-based assay to aid HCC early detection. We conducted a three-phase, multi-center study to screen, optimize and validate HCC-specific differentially methylated regions (DMRs) using quantitative methylation-specific PCR (qMSP). Genomic-wide profiling of DNA methylation identified DMRs in HCC tumors distinguished from normal tissues and healthy plasmas. Twenty most effective DMRs were verified and incorporated into a multi-locus qMSP assay (HepaAiQ). The HepaAiQ model was trained for HCC early detection with a multi-center cohort of 559 plasmas of 293 HCC patients (76.5% stage 0/A) and 266 controls including 96 chronic hepatitis B (CHB) or liver cirrhosis (LC), 23 benign hepatic lesion (BHL) and 147 healthy controls (HC). Blind validation of HepaAiQ in an independent cohort of 523 participants showed consistent performance with a sensitivity of 84.4% in 205 HCC (81.5% stage 0/A) and a specificity of 90.3% in 318 controls (100 CHB/LC, 102 BHL and 116 HC). HepaAiQ significantly outperformed commonly used serum markers in the same cohort. Moreover, HepaAiQ was evaluated in paired pre/postoperative plasmas from 103 HCC patients and correlated with 2-year patient outcomes. Patients with postoperative positive HepaAiQ exhibit higher recurrent risk than negatives, suggesting a prognostic value of HepaAiQ.HepaAiQ, a non-invasive qMSP assay, is developed to accurately measure HCC-specific DMRs and shows great potentials for HCC early detection and prognosis to benefit the population at risk. | ||||||||||||||||||||||||||||||||||||||||
| Sample scope | Multiisolate | ||||||||||||||||||||||||||||||||||||||||
| Release date | 2023-04-11 | ||||||||||||||||||||||||||||||||||||||||
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| Submitter | jian zhou (dezhen96@163.com) | ||||||||||||||||||||||||||||||||||||||||
| Organization | Zhongshan Hospital, Fudan University | ||||||||||||||||||||||||||||||||||||||||
| Submission date | 2023-04-11 |
| Resource name | Description |
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