Detection of Targetable Genetic Alterations in Korean Lung CancerPatients: A Comparison Study of Single-Gene Assays andTargeted Next-Generation Sequencing / Journal of the Korean Cancer Association, 대한암학회지

ABSTRACT

Purpose@#Epidermal growth factor receptor (EGFR), anaplastic lymphoma kinase (ALK), and ROSproto-oncogene 1 (ROS1) are ‘must-test’ biomarkers in the molecular diagnostics of advanced-stage lung cancer patients. Although single-gene assays are currently considered thegold standard for these genes, next-generation sequencing (NGS) tests are being introducedto clinical practices. We compared the results of current diagnostics and aimed to suggesttimely effective guidance for their clinical use. @*Materials and Methods@#Patients with lung cancer who received both conventional single-gene assays and subsequenttargeted NGS testing were enrolled, and the results of their tests were compared. @*Results@#A total of 241 patients were enrolled, and the EGFR real-time polymerase chain reaction,ALK fluorescence in situ hybridization (FISH), and ROS1 FISH assays exhibited 92.9%,99.6%, and 99.5% concordance with the NGS tests, respectively. The discordant cases weremostly false-negatives of the single-gene assays, probably due to technical limitation. Of158 cases previously designated as wild-type, EGFR, ALK, and ROS1 alterations were identifiedin 10.1%, 1.9%, and 1.3%, respectively, and other targetable alterations were identifiedin 36.1% of the cases. Of patients with additionally identified actionable alterations, 32.6%(31/95) received matched therapy with a clinical benefit of 48.4% (15/31). @*Conclusion@#Even though the conventional and NGS methods were concordant in the majority of cases,NGS testing still revealed a considerable number of additional EGFR, ALK, and ROS1 alterations,as well as other targetable alterations, in Korean advanced-stage lung cancer patients.Given the high frequency of EGFR and other targetable mutations identified in thepresent study, NGS testing is highly recommended in the diagnosis of Korean lung cancerpatients.