The first liquid biopsy test approved. Is it a new era of mutation testing for non-small cell lung cancer?
1MSC Memorial Cancer Centre and Institute of Oncology, Warsaw, Poland.
Abstract:
Specific mutations in epidermal growth factor receptor (EGFR) gene are predictive for response to the EGFR tyrosine kinase inhibitors (TKIs) in non-small cell lung cancer patients (NSCLC). According to international guidelines, the molecular testing in patients with advanced NSCLC of a non-squamous subtype is recommended. However, obtain a tissue sample could be challenging. Liquid biopsy allows to determine patients suitable for EGFR-targeted therapy by analysis of circulating-free tumor DNA (cfDNA) in peripheral blood samples and might replace tissue biopsy. It allows to acquire a material in convenient minimally invasive manner, is easily repeatable, could be used for molecular identification and molecular changes monitoring. Many studies show a high concordance rate between tissue and plasma samples testing. When U.S. Food and Drug Administration (FDA) approved the first liquid biopsy test, analysis of driver gene mutation from cfDNA becomes a reality in clinical practice for patients with NSCLC.
Insights
Liquid biopsy using circulating-free tumor DNA (cfDNA) effectively identifies non-small cell lung cancer (NSCLC) patients for EGFR-targeted therapy. This minimally invasive approach offers a viable alternative to tissue biopsy for molecular testing in advanced NSCLC.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Specific epidermal growth factor receptor (EGFR) mutations predict treatment response in non-small cell lung cancer (NSCLC).
- Molecular testing is recommended for advanced NSCLC, but tissue biopsy can be challenging.
- Liquid biopsy offers a minimally invasive alternative for molecular profiling.
Purpose of the Study:
- To evaluate the utility of liquid biopsy for identifying EGFR mutations in NSCLC patients.
- To assess the concordance between liquid and tissue biopsy for EGFR mutation detection.
- To highlight the clinical applicability of cfDNA analysis for targeted therapy selection.
Main Methods:
- Analysis of circulating-free tumor DNA (cfDNA) from peripheral blood samples.
- Utilizing minimally invasive liquid biopsy techniques.
- Comparing cfDNA results with traditional tissue biopsy findings.
Main Results:
- Liquid biopsy demonstrates high concordance with tissue biopsy for detecting EGFR mutations.
- cfDNA analysis enables convenient and repeatable molecular testing.
- FDA approval of liquid biopsy tests signifies clinical integration.
Conclusions:
- Liquid biopsy is a reliable method for identifying NSCLC patients eligible for EGFR-targeted therapy.
- cfDNA analysis provides a practical alternative to tissue biopsy, especially when tissue acquisition is difficult.
- Molecular monitoring of treatment response and resistance is feasible with serial liquid biopsies.
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