EML4-ALK gene mutation detected by a new NGS lung cancer panel CDx using sputum cytology in a case of advanced NSCLC

The detection of driver gene mutations has become essential for lung cancer. However, insufficient sample sizes make gene panel tests difficult to use. We previously reported that the lung cancer compact panel TM (LCCP) could detect EGFR and MET gene mutations by sputum cytology. To date, the detection of gene mutation using RNA from sputum samples was considered practically difficult. We report a case in which the EML4-ALK fusion gene was successfully detected from a sputum sample using LCCP that has just been released in Japan as a new next generation sequencing lung cancer panel CDx.