Comparative analysis of actionable gene reporting in targeted panels versus comprehensive NGS testing for solid tumor samples.

• DOI: 10.1200/jco.2024.42.16_suppl.11185
• Publication Date: 2024-06-03T20:52:35Z
• Authors: Chaugiang Duong; Roisin Puentes; Nathan Montgomery; Derek Lyle; Fernando J. Lopez...
• Keywords: Solid tumor

11185 Background: The landscape of actionable genes significantly influences clinical decisions in cancer diagnosis, prognosis, and treatment planning. In a context, the selection NGS panels hinges on striking balance among informative data, insurance coverage, preferences patients healthcare providers. Molecular pathology reference laboratories commonly employ large-scale next-generation sequencing (NGS) testing, curating smaller, disease-specific targeted panels. This study investigates prevalence unreported real-world samples subjected to Methods: We analyzed SNV/InDel DNA variants 795 solid tumor using Illumina TSO 500 platform for comprehensive panel testing 517 genes. Comprehensive panel-tested were intersected with breast (54 genes), brain (62 colorectal (36 lung (44 genes). An artificial filter was applied align patient disease. Variants classified based pathogenicity, benign filtered out. Detected assessed mutations as defined by FDA recognized OncoKB gene database criteria. Additionally, 1484 tested lung-specific de-identified unmasked profiling investigate alteration beyond those covered panel. Results: revealed that 3.2% breast, 0% brain, 66.2% colorectal, 2.7% had additional undisclosed number included 14 2 25 lung, 41 cancer. underscores importance fully capture each tumor’s mutation profile. Conclusions: Our findings detect masked down-sampled highlight need accurately identify various types. Reporting can influence decision-making, emphasizing test routine molecular diagnostics well impact integrating testing.