PurposeEpidermal growth factor receptor (<i>EGFR</i>), anaplastic lymphoma kinase (<i>ALK</i>), and ROS proto-oncogene 1 (<i>ROS1</i>) are ‘must-test’ biomarkers in the molecular diagnostics of advanced-stage lung cancer patients. Although single-gene assays are currently considered the gold standard for these genes, next-generation sequencing (NGS) tests are being introduced to clinical practices. We compared the results of current diagnostics and aimed to suggest timely effective guidance for their clinical use. Materials and MethodsPatients with lung cancer who received both conventional single-gene assays and subsequent targeted NGS testing were enrolled, and the results of their tests were compared. ResultsA total of 241 patients were enrolled, and the <i>EGFR</i> real-time polymerase chain reaction, <i>ALK</i> fluorescence <i>in situ</i> hybridization (FISH), and <i>ROS1</i> FISH assays exhibited 92.9%, 99.6%, and 99.5% concordance with the NGS tests, respectively. The discordant cases were mostly false-negatives of the single-gene assays, probably due to technical limitation. Of 158 cases previously designated as wild-type, <i>EGFR</i>, <i>ALK</i>, and <i>ROS1</i> alterations were identified in 10.1%, 1.9%, and 1.3%, respectively, and other targetable alterations were identified in 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). ConclusionEven though the conventional and NGS methods were concordant in the majority of cases, NGS testing still revealed a considerable number of additional <i>EGFR</i>, <i>ALK</i>, and <i>ROS1</i> alterations, as well as other targetable alterations, in Korean advanced-stage lung cancer patients. Given the high frequency of <i>EGFR</i> and other targetable mutations identified in the present study, NGS testing is highly recommended in the diagnosis of Korean lung cancer patients.
OA 18.01 Paired Tumor-Normal Next-Generation Sequencing (NGS) to Identify Pathogenic / Likely Pathogenic Germline Mutations in Lung Cancer Patients
