PATH-22. Characteristics of various comprehensive genomic profiling tests for central nervous system tumors in Japan since 2023

Abstract BACKGROUND In Japan, two cancer gene panel (CGP) tests—OncoGuide™ NCC Oncopanel System (NCCG) and FoundationOne® CDx (F1)—were first covered by public insurance in June 2019 and are widely used to identify actionable genetic alterations in brain tumor patients. In August 2023, a new tissue-based CGP test, the GenMineTOP Cancer Genome Profiling System (GMT), also received insurance coverage. GMT broadened the genomic coverage by including 737 cancer-related genes and allowed detection of 455 gene fusions via RNA analysis. This study aimed to evaluate the features and performance of different CGP tests in glioma patients registered from 2023 onward. METHODS Data were obtained from the Center for Cancer Genomics and Advanced Therapeutics (C-CAT) database. Cases of central nervous system (CNS) tumors registered between August 2023 and April 2025 were included. Patients were categorized into three groups based on the CGP used: F1, GMT, or NCCG. We analyzed the types and frequency of genetic alterations identified in each group. RESULTS Among 1,151 eligible cases, 563 underwent F1, 542 GMT, and 46 NCCG. The distribution of CGP usage changed notably over time: in 2023, F1 and GMT accounted for 77.7% and 17.5%, respectively, but by 2025, their shares shifted to 22.4% and 69.3%, indicating a growing preference for GMT. F1 identified the highest number of somatic mutations, with a mean of 11.3 variants per case, compared to 6.5 with GMT and 3.4 with NCCG. Similar patterns were observed for copy number alterations and structural variants, leading to more off-label treatment suggestions in the F1 group. In contrast, GMT demonstrated superior capability in detecting germline mutations, found in 6.1% of CNS cases. CONCLUSIONS CGP tests offer valuable genomic information for guiding therapy, but differences in detection capacity highlight the importance of selecting the appropriate panel based on clinical and diagnostic goals.