Preliminary Results of NGS Gene Panel Test Using NSCLC Sputum Cytology and Therapeutic Effect Using Corresponding Molecular-Targeted Drugs

• Published in: Genes Vol. 13; no. 5; p. 812
• Main Authors: Morikawa, Kei, Kinoshita, Kohei, Kida, Hirotaka, Inoue, Takeo, Mineshita, Masamichi
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 02-05-2022; MDPI
• Subjects: Biopsy; Brief Report; Bronchoscopy; c-Met protein; Carcinoma, Non-Small-Cell Lung - drug therapy; Carcinoma, Non-Small-Cell Lung - genetics; Carcinoma, Non-Small-Cell Lung - pathology; Cellular biology; Cytology; Endoscopy; Epidermal growth factor; Epidermal growth factor receptors; ErbB Receptors - genetics; Genomes; High-Throughput Nucleotide Sequencing; Humans; Lung cancer; Lung Neoplasms - diagnosis; Lung Neoplasms - drug therapy; Lung Neoplasms - genetics; Mutation; Next-generation sequencing; Non-small cell lung carcinoma; Polymorphism; Protein-tyrosine kinase; Small cell lung carcinoma; Sputum; United States > US; Japan; non-small cell lung cancer; KRAS mutation; next generation sequencing; sputum cytology; MET exon14 skipping; lung cancer compact panel; epidermal growth factor receptor mutation
• ISSN: 2073-4425; 2073-4425
• DOI: 10.3390/genes13050812

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.