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Updated: Mar 30, 2026
Detection of Cell-Free DNA in Blood Plasma Samples of Cancer Patients
Published on: September 9, 2020
Testing for oncogenic molecular aberrations in cell-free DNA-based liquid biopsies in the clinic: are we there yet?
Jiri Polivka1,2, Martin Pesta3, Filip Janku
1a Department of Histology and Embryology and Biomedical Centre, Faculty of Medicine in Plzen , Charles University in Prague , Plzen , Czech Republic.
Abstract:
The optimal choice of cancer therapy depends upon analysis of the tumor genome for druggable molecular alterations. The spatial and temporal intratumor heterogeneity of cancers creates substantial challenges, as molecular profile depends on time and site of tumor tissue collection. To capture the entire molecular profile, multiple biopsies from primary and metastatic sites at different time points would be required, which is not feasible for ethical or economic reasons. Molecular analysis of circulating cell-free DNA offers a novel, minimally invasive method that can be performed at multiple time-points and plausibly better represents the prevailing molecular profile of the cancer. Molecular analysis of this cell-free DNA offers multiple clinically useful applications, such as identification of molecular targets for cancer therapy, monitoring of tumor molecular profile in real time, detection of emerging molecular aberrations associated with resistance to particular therapy, determination of cancer prognosis and diagnosis of cancer recurrence or progression.
Insights
Analyzing circulating cell-free DNA (cfDNA) offers a minimally invasive approach to comprehensively profile cancer genomes. This method overcomes challenges of tumor heterogeneity and provides real-time monitoring for personalized cancer therapy.
Area of Science:
- Oncology
- Molecular Biology
- Genomics
Background:
- Optimal cancer therapy selection relies on identifying druggable molecular alterations within the tumor genome.
- Intratumor heterogeneity presents significant challenges, as tumor molecular profiles vary by collection time and site.
- Obtaining comprehensive molecular profiles necessitates multiple biopsies, which is often infeasible due to ethical and economic constraints.
Purpose of the Study:
- To explore the utility of circulating cell-free DNA (cfDNA) analysis as a minimally invasive method for comprehensive cancer molecular profiling.
- To highlight the potential of cfDNA analysis in overcoming challenges posed by intratumor heterogeneity.
- To outline the clinical applications of cfDNA analysis in guiding cancer treatment and monitoring.
Main Methods:
- Molecular analysis of circulating cell-free DNA (cfDNA) obtained through minimally invasive procedures.
- Longitudinal sampling of cfDNA at multiple time points to capture dynamic tumor molecular changes.
- Comparison of cfDNA profiles with traditional tissue biopsies to assess representativeness.
Main Results:
- Circulating cell-free DNA analysis provides a feasible and minimally invasive alternative to multiple tissue biopsies.
- cfDNA analysis can capture a more representative molecular profile of the cancer, accounting for spatial and temporal heterogeneity.
- This approach enables real-time monitoring of tumor evolution and treatment response.
Conclusions:
- Molecular analysis of cfDNA is a promising strategy for personalized cancer therapy.
- cfDNA profiling facilitates real-time monitoring, early detection of resistance, and improved cancer prognosis.
- This minimally invasive technique holds significant potential for clinical applications in oncology, including diagnosis and treatment selection.
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