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Related Experiment Video

Updated: Jun 28, 2025

Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
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Monitoring Hepatocellular Carcinoma Using Tumor Content in Circulating Cell-Free DNA.

Shifeng Lian1,2,3,4, Chenyu Lu5,6, Fugui Li3

  • 1Ming Wai Lau Centre for Reparative Medicine, Karolinska Institutet, Sha Tin, Hong Kong SAR, People's Republic of China.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|April 17, 2024
PubMed
Summary

Tumor content in cell-free DNA (cfDNA) effectively monitors hepatocellular carcinoma (HCC). This biomarker aids in early detection and prognosis, outperforming traditional methods.

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Area of Science:

  • Oncology
  • Genomics
  • Molecular Diagnostics

Background:

  • Hepatocellular carcinoma (HCC) remains a leading cause of cancer-related mortality worldwide.
  • Monitoring HCC progression and treatment response is crucial for patient outcomes.
  • Circulating cell-free DNA (ccfDNA) offers a minimally invasive source for tumor-derived biomarkers.

Purpose of the Study:

  • To evaluate the utility of tumor content in ccfDNA for monitoring HCC throughout its clinical course.
  • To assess the correlation between ccfDNA tumor content and HCC tumor burden, stage, and patient survival.
  • To determine the potential of ccfDNA tumor content for early HCC detection and prognosis.

Main Methods:

  • Analysis of ccfDNA tumor content using shallow whole-genome sequencing and the ichorCNA algorithm.
  • Inclusion of patients with hepatitis B virus-related HCC and healthy controls.
  • Prospective cohort study with longitudinal sample collection for pre-diagnosis monitoring.

Main Results:

  • High ccfDNA tumor content is significantly associated with advanced HCC stage and poorer survival.
  • Tumor content decreased post-surgery but remained elevated after transarterial chemoembolization.
  • Elevated tumor content was detected up to 4 years prior to clinical HCC diagnosis, with increasing sensitivity at later stages.

Conclusions:

  • ccfDNA tumor content serves as a valuable biomarker for monitoring HCC burden and predicting prognosis.
  • This approach enables potential HCC detection up to a year earlier than conventional clinical diagnosis.
  • ccfDNA tumor content monitoring can significantly aid in personalized HCC management strategies.