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Updated: Jun 27, 2025
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Detection of Cell-Free DNA in Blood Plasma Samples of Cancer Patients
Published on: September 9, 2020
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Circulating DNA genome-wide fragmentation in early detection and disease monitoring of hepatocellular carcinoma
Shifeng Lian1,2,3,4, Chenyu Lu5,6, Fugui Li4
1Ming Wai Lau Centre for Reparative Medicine, Karolinska Institutet, Sha Tin, Hong Kong SAR of the People's Republic of China.
Iscience
|April 29, 2024
Summary
Analyzing cell-free DNA fragmentation in blood detects early hepatocellular carcinoma (HCC). This method shows promise for screening, with sensitivity increasing as samples approach diagnosis.
Area of Science:
- Oncology
- Genomics
- Biomarker Discovery
Background:
- Circulating cell-free DNA (ccfDNA) fragmentation analysis is an emerging tool for cancer detection.
- Few studies have assessed ccfDNA fragmentation using pre-diagnostic blood samples for early cancer detection.
- Hepatocellular carcinoma (HCC) remains a significant global health challenge, necessitating improved early detection strategies.
Purpose of the Study:
- To evaluate the utility of genome-wide ccfDNA fragmentation patterns for the early detection of hepatocellular carcinoma (HCC).
- To assess the performance of a ccfDNA fragmentation model in distinguishing HCC patients from healthy controls.
- To determine the sensitivity of ccfDNA fragmentation detection at various time points preceding clinical HCC diagnosis.
Main Methods:
- Utilized a cohort of 427 blood samples, including 270 pre-diagnostic samples from a population-based study.
- Developed and validated a model based on genome-wide ccfDNA fragmentation patterns.
- Analyzed ccfDNA fragmentation scores in relation to tumor stage and patient survival.
Main Results:
- The ccfDNA fragmentation model achieved excellent discrimination between HCC patients and controls (AUC = 0.999).
- Higher ccfDNA fragmentation scores correlated significantly with advanced tumor stage and poorer survival outcomes.
- Sensitivity for HCC detection increased progressively with decreasing time to diagnosis, ranging from 8.3% (≥4 years prior) to 36.4% (0-1 year prior).
Conclusions:
- Genome-wide ccfDNA fragmentation is a sensitive biomarker for clinical HCC detection.
- This approach holds potential for the development of non-invasive screening tools for early-stage HCC.
- Further research into pre-diagnostic ccfDNA fragmentation may enhance early cancer surveillance strategies.
