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Updated: May 11, 2026
08:25
Detection of Cell-Free DNA in Blood Plasma Samples of Cancer Patients
Published on: September 9, 2020
11.2K
Game-Set-MATCH: Liquid Biopsy Advances to the Next Round
Alessandro Russo1,2, Paola Muscolino3, Christian Rolfo4
1Department of Biomedical Sciences, Humanitas University, Milan, Italy.
Summary
Liquid biopsy shows high concordance with tumor genotyping for detecting genomic alterations. This supports its use in targeted therapy trials when tissue biopsy is not possible.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- Targeted therapy relies on identifying specific genomic alterations in tumors.
- Tumor genotyping is the standard method for detecting these alterations.
- Challenges exist in obtaining sufficient tumor tissue for comprehensive genomic profiling.
Purpose of the Study:
- To evaluate the concordance rate between tumor genotyping and plasma genotyping.
- To assess the utility of liquid biopsy in identifying actionable genomic alterations for targeted therapy.
Main Methods:
- Comparative analysis of tumor and plasma genotyping results.
- Detection of actionable genomic alterations using next-generation sequencing.
Main Results:
- High concordance observed between tumor and plasma genotyping.
- Liquid biopsy effectively identifies key genomic alterations comparable to tissue biopsy.
Conclusions:
- Plasma genotyping (liquid biopsy) is a viable alternative to tissue genotyping.
- Liquid biopsy facilitates patient enrollment in genomically-guided clinical trials, particularly when tissue is limited or inaccessible.
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