Abstract
Abstract Background Comprehensive genomic profiling (CGP) testing has been covered by public health insurance and its clinical application has started in Japan since June 2019. All the results of CGP testing are sent to the Center for Cancer Genomics and Advanced Therapeutics (C-CAT) and shared with clinicians after discussion at the Expert Panel (EP). Here we report the results of analysis of adult central nervous system (CNS) tumors registered in Japan. Methods C-CAT registry data as of April 2022 (ver. 20220406) was used. Patient background, diagnosis, type of CGP testing, genetic alterations and treatment status after EP were analyzed. Results 1042 patients with CNS tumors were enrolled, 338 (32.4%) were younger than 20 years old and 704 (67.6%) were older. Among 704 adult patients, mean age was 47.6 years and median ECOG PS was 1. Top tumor diagnosis included glioblastoma (42.8%), anaplastic astrocytoma (11.8%) and anaplastic oligodendroglioma (5.0%), and 634 (90.0%) were tested with FoundationOne CDx(R). Regarding genomic alterations, 278 had TP53 mutation, 242 had CDKN2A deletion, 221 had TERT mutation, 218 had CDKN2B deletion, 136 had IDH1 mutation, and 39 had TMB high (>10Mb) and no NTRK gene fusion was observed. EP recommended treatment options in 187 cases (26.6%) and 60 cases (8.5%) reached therapeutic agents, including 25 Patient-Proposed Healthcare Services, 16 approved drugs, 8 pharmaceutical clinical trials, 7 investigator-initiated clinical trials and 4 others. Conclusion This is the first report of nation-wide results of CNS tumors analyzed by CGP in Japan. Although some patients were able to reach therapeutic agents under the Patient-Proposed Healthcare Services system, little number of patients reached clinical trial. Development of new drugs is urgently warranted.
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