B-088 Comprehensive Genomic Profiling of Solid Tumors by Next Generation Sequence : Clinical Utility and Biomarker Discovery in a Pan-Cancer Cohort
Abstract
The transition from single-gene testing to comprehensive genomic profiling (CGP) is essential for precision oncology. The next generation sequence platform, enables the simultaneous detection of diverse variants and complex immuno-oncology biomarkers, providing a holistic view of the tumor genomic landscape. We analyzed formalin-fixed paraffin-embedded (FFPE) tumor samples from 1,596 patients (median age: 60.0 years) across various histologies—including NSCLC, CRC, and breast cancer—using the TSO 500 hybridization-capture-based NGS workflow. The assay targets 523 genes for DNA (SNVs, Indels, CNVs) and 55 genes for RNA (fusions, splice variants). Bioinformatics analysis was performed to quantify Tumor Mutational Burden (TMB) and Microsatellite Instability (MSI). The TSO 500 platform demonstrated high analytical sensitivity (>96% for variants at 5% VAF). Actionable alterations (Tier I/II) were identified in 77.4% (1236/1596) of cases, including rare fusions (e.g., NTRK, RET) and copy number amplifications (e.g., ERBB2, MET). The top five cancer types by patient volume and mutation detection rate were: lung (n=904, 79.1%), colorectal (n=133, 61.7%), liver (n=125, 78.4%), brain/CNS (n=108, 80.6%), and pancreatic cancer (n=86, 91.9%). Furthermore, the assay provided robust TMB quantification (Median: 4.71 mut/Mb); TMB-high status (>10 mut/Mb) was identified in 127 cases, showing strong concordance with whole-exome sequencing (WES) benchmarks. MSI-High status was detected in 0.6% of the cohort, identifying candidates for immune checkpoint inhibitor (ICI) therapy. According to the results, lung cancer is a serious problem in Asia. The next generation sequence platform provides a standardized, scalable solution for in-house CGP. By consolidating multiple biomarkers into a single assay, it optimizes tissue utilization and accelerates the delivery of actionable insights, directly impacting treatment stratification and clinical trial enrollment for patients with advanced malignancies.