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Detection of Cell-Free DNA in Blood Plasma Samples of Cancer Patients
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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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Actionable mutations in plasma cell-free DNA in patients with advanced cancers referred for experimental targeted

Filip Janku1, Philipp Angenendt2, Apostolia M Tsimberidou1

  • 1Department of Investigational Cancer Therapeutics (Phase I Clinical Trials Program), The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

Oncotarget
|May 19, 2015
PubMed

Insights

Plasma cell-free DNA (cfDNA) analysis accurately detects cancer mutations, with higher mutant cfDNA levels correlating to shorter patient survival. This liquid biopsy approach aids in cancer mutation detection and prognosis.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Cell-free DNA (cfDNA) in plasma is a minimally invasive source for cancer mutation analysis.
  • Previous studies have explored cfDNA for detecting specific cancer-driving mutations.

Purpose of the Study:

  • To evaluate the concordance between plasma cfDNA and tumor tissue for detecting mutations in BRAF, EGFR, KRAS, and PIK3CA.
  • To assess the prognostic value of cfDNA mutation levels in advanced cancer patients.

Main Methods:

  • Plasma samples from 157 advanced cancer patients were analyzed for 21 mutations using the BEAMing method.
  • Results were compared to mutation analysis of archival tumor tissue.
  • Patient survival data was correlated with cfDNA mutation allelic frequency.

Main Results:

  • High concordance rates were observed between plasma cfDNA and tumor tissue: 91% for BRAF, 99% for EGFR, 83% for KRAS, and 91% for PIK3CA.
  • Patients with >1% mutant cfDNA (KRAS or any of the four genes) exhibited significantly shorter median survival.
  • Multivariable analysis confirmed the prognostic significance of cfDNA mutation levels.

Conclusions:

  • Plasma cfDNA mutation analysis is a reliable and concordant method compared to tumor tissue analysis.
  • Mutant cfDNA levels in plasma serve as a valuable prognostic biomarker for advanced cancer patients.
Keywords:
BRAFEGFRKRASPIK3CAcell-free DNA

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