10128- COT-15 CURRENT STATUS AND CHALLENGES OF COMPREHENSIVE GENOME PROFILING FOR CNS TUMORS

Abstract BACKGROUND AND OBJECTIVES Comprehensive Genome Profiling (CGP) has been covered by insurance since June 2019. This advancement has enabled the identification of therapeutic target gene mutations, improving access to drugs through clinical trials and patient-requested therapy programs. However, it has been noted that the number of cases that actually lead to treatment remains low. This study aims to examine the current status of CGP for brain and spinal cord tumor patients, assessing its utility and challenges. METHODS We investigated 46 cases of central nervous system tumors that underwent CGP by April 2024. The focus was on the detection of MSI-H, TMB-H, NTRK fusion genes, and BRAF gene mutations, as well as the genetic mutations associated with recommended drugs, and examined the cases that led to actual treatment. RESULTS The median age of the patients was 50 years. The breakdown included 26 cases of adult-type diffuse glioma, 5 cases of diffuse midline glioma with H3 K27M alteration, 1 case of pilomyxoid astrocytoma, 2 cases of ependymal tumors, 3 cases of atypical teratoid/rhabdoid tumor (AT/RT), 3 cases of anaplastic meningioma, and 6 other cases. MSI-H and TMB-H were found in 1 case of glioblastoma, TMB-H alone in 3 cases, NTRK fusion gene in 1 case of spinal glioma, and BRAF V600E mutation in 1 case of glioblastoma. Thirty cases (65%) received some form of recommendation, with 6 cases (13%) receiving drug treatment. Only the spinal glioma with the NTRK fusion gene showed significant improvement with entrectinib. CONCLUSION While CGP is useful for identifying genetic abnormalities, its connection to actual treatment is limited. Future efforts should focus on developing new therapies and enhancing clinical trials, as well as exploring high-precision biomarkers and detailed analyses of the relationship between treatment history, clinical information, and genetic abnormalities.