P2.14-04 Clinical Validation of Large NGS Gene Panel Using Residual Specimen
Journal of Thoracic Oncology(2019)
Tottori Univ Hosp
Abstract
Precision medicine based on driver oncogenes is now developed for non-small cell lung cancer (NSCLC). A large number of next-generation sequencing (NGS) gene panels with various characteristics have been developed, and it is important to use properly according to the purpose. TruSight™ Oncology (TSO) 500 is an NGS tumor profiling assay that targets over 500 genes to analyze cancer-related biomarkers including SNVs, indels, fusions, splice variants, tumor mutation burden (TMB) and microsatellite instability (MSI). Of the cases diagnosed with advanced NSCLC at Tottori University Hospital, 30 cases with consent to this observational study were enrolled. TSO500 was performed at the CLIA-certified laboratory (RIKEN GENESIS CO., LTD.) using DNA and RNA extracted from archived formalin-fixed paraffin-embedded (FFPE) lung cancer specimens. These were compared with gene alterations measured in the clinical practice. Specimens were collected by bronchoscopy in 21 cases (70%), percutaneous biopsy in 3 cases (10%), surgery in 3 cases (10%), cell block of pleural effusion in 2 cases (7%) and thoracoscopy in 1 case (3%). The success rates of DNA analyses, including TMB and MSI analysis, and RNA analyses were 83% (25/30 cases) and 97% (29/30 cases), respectively. In the 30 cases analyzed, a total of 25 actionable gene alterations (13 EGFR mut, 4 ALK fus, 2 KRAS mut, 2 BRAF mut, 2 MET ex14 skipping, 1 RET fus, 1 PIK3CA mut) were detected in 24 cases (80%). Of the 21 cases that actionable gene alterations were identified in the clinical practice, TSO500 detected similar gene alterations in 20 cases (95%) except for one case that RNA analysis was failed. In addition, TSO500 detected BRAF V600E mutation in one case that had not been tested for BRAF mutation. TMB analysis succeeded in 26/30 cases (87%) and 9/26 cases (35%) were TMB-high when 10 mutations per mega base was set as the threshold. Despite analyzing small biopsy specimens with a large NSG panel, TSO500 could detect not only gene alterations for clinical use but also exploratory gene alterations.
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Key words
Next-generation sequencing,driver oncogene,Precision medicine
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