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Updated: Jan 1, 2026
Detection of Cell-Free DNA in Blood Plasma Samples of Cancer Patients
Published on: September 9, 2020
Role of liquid biopsy in oncogene-addicted non-small cell lung cancer
Matteo Canale1, Luigi Pasini1, Giuseppe Bronte2
1Biosciences Laboratory, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Meldola, Italy.
Abstract:
The discovery of actionable oncogene in non-small cell lung cancer (NSCLC) allowed the identification of a subgroup of patients who benefit from targeted tyrosine kinase inhibitors more than others. Mutations in the epidermal growth factor receptor (EGFR), translocations in the anaplastic lymphoma kinase (ALK) and rearrangements in the ROS proto-oncogene 1 (ROS1) must be identified in tumor tissue to guide the proper treatment choice. Liquid biopsy is based on the analysis of tumor materials released in the circulation. Liquid biopsy can be complementary to tissue biopsy, both at baseline and at progression, especially in the detection of somatic gene alterations emerging during the treatment with tyrosine kinase inhibitors (TKIs). Particularly, circulating DNA is used to find mutations in driver oncogenes, while circulating tumor cells, extracellular vesicles (EVs) and cell-free microRNAs (cfmiRNAs) are still under investigation. To help the unbiased use of liquid biopsy in the choice of the appropriate therapy, some recommendations were delivered by expert panels. Currently, analysis of EGFR mutations in cell-free DNA (cfDNA) is recommended at baseline when tissue biopsy harbors scarce tumor cells, and at progression before performing tissue biopsy; liquid biopsy analysis for other oncogenic drivers is not indicated in the clinical practice.
Insights
Liquid biopsy aids in non-small cell lung cancer (NSCLC) treatment by detecting gene mutations like EGFR. While currently recommended for EGFR mutations in cell-free DNA (cfDNA), its use for other drivers is still under investigation.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genomics
Background:
- Actionable oncogenes in non-small cell lung cancer (NSCLC) guide targeted therapies.
- Identifying mutations in EGFR, ALK, and ROS1 is crucial for treatment selection.
- Liquid biopsy analyzes circulating tumor materials, complementing tissue biopsies.
Purpose of the Study:
- To review the role of liquid biopsy in identifying actionable oncogenes for NSCLC treatment.
- To discuss the current recommendations and limitations of liquid biopsy in clinical practice.
- To highlight the potential of liquid biopsy in detecting treatment-emergent alterations.
Main Methods:
- Review of current literature and expert panel recommendations on liquid biopsy in NSCLC.
- Analysis of circulating tumor DNA (ctDNA) for somatic gene alterations.
- Investigation of circulating tumor cells (CTCs), extracellular vesicles (EVs), and cell-free microRNAs (cfmiRNAs).
Main Results:
- Liquid biopsy, particularly cfDNA analysis, is recommended for EGFR mutation detection at baseline and progression.
- Tissue biopsy remains essential for identifying ALK and ROS1 alterations.
- Liquid biopsy for other oncogenic drivers is not yet standard clinical practice.
Conclusions:
- Liquid biopsy is a valuable tool for NSCLC management, especially for EGFR mutations.
- Further research is needed to expand the clinical utility of liquid biopsy for other oncogenic drivers.
- Expert recommendations guide the appropriate use of liquid biopsy in NSCLC treatment decisions.
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