NGS gene panel test using sputum cytology for NSCLC

As molecular-targeted drugs for advanced non-small cell lung cancer (NSCLC) are continuously being brought to market, batch tests for gene mutations are needed for identification at first diagnosis. Conversely, since current gene panel tests require a sufficient amount of tissue sample, there are many cases in which panel tests cannot be performed. Therefore, we have developed a high- sensitivity next generation sequencing (NGS) panel test that can facilitate cytological specimens, which we are currently preparing for clinical introduction. Herein, we describe two cases that were found positive for epidermal growth factor receptor (EGFR) exon 19 deletion and MET exon 14 skipping by NGS analysis from sputum. In each case, genetic information was consistent with companion diagnostic analysis using tissue samples collected under bronchoscopy. Technological change is underway to perform gene batch testing with smaller amounts of tumor cells with minimal invasiveness.