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Updated: Sep 21, 2025
Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
Preliminary Results of NGS Gene Panel Test Using NSCLC Sputum Cytology and Therapeutic Effect Using Corresponding
Kei Morikawa1, Kohei Kinoshita1, Hirotaka Kida1
1Department of Internal Medicine, Division of Respiratory Diseases, St. Marianna University School of Medicine, Kawasaki 216-8511, Japan.
Abstract:
As more molecular-targeted drugs for advanced non-small cell lung cancer are brought to market, batch tests for the identification of gene mutations are needed at initial diagnosis. However, since current gene panel tests require a sufficient amount of tissue sample, there are many instances where panel tests cannot be performed. Therefore, we have developed a highly sensitive next generation sequencing (NGS) panel test to facilitate cytological specimens. Herein, we describe three cases positive for epidermal growth factor receptor (EGFR) exon 19 deletion, MET exon 14 skipping, and KRAS G12A using NGS analysis from sputum. In each case, genetic information was consistent with companion diagnostic analysis obtained from tissue samples collected under bronchoscopy. In cases of EGFR and MET mutations, the corresponding tyrosine kinase inhibitors were highly effective. This is the first report to demonstrate that a novel panel test could detect gene mutations in sputum samples in clinical practice and compare the gene allele ratio with the sample directly collected from the lesion.
Insights
A novel next-generation sequencing (NGS) panel test can detect gene mutations in sputum for advanced non-small cell lung cancer (NSCLC). This sensitive test aids diagnosis when tissue samples are insufficient, guiding targeted therapy selection.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genomics
Background:
- Advanced non-small cell lung cancer (NSCLC) treatment increasingly relies on molecular-targeted drugs.
- Accurate gene mutation identification at diagnosis is crucial for effective NSCLC treatment.
- Current gene panel tests often require sufficient tissue, limiting their use in some patients.
Purpose of the Study:
- To develop and evaluate a highly sensitive next-generation sequencing (NGS) panel test for detecting gene mutations in cytological specimens.
- To assess the feasibility of using sputum samples for molecular profiling in NSCLC patients.
- To compare NGS results from sputum with companion diagnostic analyses from tissue samples.
Main Methods:
- Development of a novel, highly sensitive NGS panel test.
- Analysis of sputum samples from three advanced NSCLC patients.
- Detection of epidermal growth factor receptor (EGFR) exon 19 deletion, MET exon 14 skipping, and KRAS G12A mutations.
- Comparison of sputum NGS results with tissue-based companion diagnostic analyses.
Main Results:
- The NGS panel test successfully identified EGFR exon 19 deletion, MET exon 14 skipping, and KRAS G12A mutations in sputum samples.
- Genetic information from sputum was consistent with tissue sample analyses.
- Tyrosine kinase inhibitors targeting EGFR and MET mutations showed high efficacy in the respective patients.
- This study is the first to demonstrate clinical application of a novel panel test for sputum gene mutation detection in NSCLC.
Conclusions:
- A novel, highly sensitive NGS panel test can effectively detect clinically relevant gene mutations in sputum samples from NSCLC patients.
- Sputum-based molecular profiling using this NGS test offers a viable alternative when tissue biopsy is insufficient.
- This approach facilitates timely diagnosis and selection of appropriate targeted therapies for advanced NSCLC.
