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Updated: Jan 2, 2026
Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
Published on: August 24, 2017
Detection of clinically relevant epidermal growth factor receptor pathway mutations in circulating cell-free tumor
Kanakasetty Babu Govind1, Deepak Koppaka1, Lokanatha Dasappa1
1Department of Medical Oncology, Kidwai Memorial Institute of Oncology, Bangalore, Karnataka, India.
Background:
Limited repertoires of targets are available in the management of squamous cell carcinoma lung. In this study, we analyzed epidermal growth factor receptor (EGFR), RAS, BRAF mutations in lung cancer patients of squamous cell histology using next-generation sequencing (NGS) on the circulating cell-free DNA (cf-DNA).
Materials And Methods:
In this prospective observational study, patients with squamous cell carcinoma lung, either newly diagnosed or having a progressive disease on prior therapy were eligible. Cf-DNA was extracted from peripheral blood and analyzed for EGFR, KRAS, NRAS, and BRAF mutations using NGS.
Results:
Sixteen patients were enrolled over a period of 1 month. The mean cf-DNA quantity extracted from the plasma was 96.5 ng (range, 15-200 ng). Eight clinically relevant mutations in the EGFR pathway were identified. These include Exon 21 mutations in 4 patients, Exon 20 mutation in onepatient, complex mutations with coexisting Exon 21 and Exon18 in one patient and KRAS Exon 2 mutations in two patients.
Conclusion:
cf-DNA is a minimally invasive technique for detection of clinically relevant mutations in lung cancer patients. The use of novel advanced techniques such as NGS may help in detecting EGFR pathway mutations in patients with squamous cell carcinoma lung.
Insights
Next-generation sequencing of cell-free DNA (cf-DNA) identified clinically relevant mutations in the epidermal growth factor receptor (EGFR) pathway in lung cancer patients. This minimally invasive approach aids in detecting actionable targets for squamous cell carcinoma lung.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genetics
Background:
- Squamous cell carcinoma of the lung has limited targeted treatment options.
- Identifying actionable mutations is crucial for effective patient management.
Purpose of the Study:
- To analyze epidermal growth factor receptor (EGFR), RAS, and BRAF mutations in lung cancer patients with squamous cell histology.
- To evaluate the utility of next-generation sequencing (NGS) on circulating cell-free DNA (cf-DNA) for mutation detection.
Main Methods:
- Prospective observational study involving patients with squamous cell carcinoma lung.
- Extraction of cf-DNA from peripheral blood.
- NGS analysis for EGFR, KRAS, NRAS, and BRAF mutations.
Main Results:
- Sixteen patients were enrolled; mean cf-DNA yield was 96.5 ng.
- Eight clinically relevant mutations in the EGFR pathway were detected.
- Mutations included EGFR Exon 21 (4 patients), Exon 20 (1 patient), complex EGFR mutations (1 patient), and KRAS Exon 2 (2 patients).
Conclusions:
- Circulating cell-free DNA (cf-DNA) offers a minimally invasive method for detecting clinically relevant mutations in lung cancer.
- Advanced techniques like NGS can identify EGFR pathway mutations in squamous cell carcinoma lung, potentially guiding treatment decisions.
