10058- COT-7 EFFICACY AND CHALLENGES REVEALED BY A SURVEY ON CANCER GENOME PROFILING IN BRAIN TUMORS

Abstract INTRODUCTION Cancer genomic profiling (CGP) testing has become increasingly important in the WHO2021 classification, supporting molecular diagnosis and providing new approaches to personalized treatment and prevention. However, challenges remain regarding the specific impact on personalized treatment and hereditary tumor diagnosis, as well as the current medical service provision system. In this study, we investigated the actual state of personalized treatment and hereditary tumor diagnosis, and the subsequent intervention process and the establishment of medical service provision system for brain tumor cases in which CGP testing was performed at our hospital. METHODS The study included 28 brain tumor cases in which CGP testing was performed using Foundation One CDx, GenMineTOP, or NCC Oncopanel between May 2020 and July 2024. Based on the results, including genetic risk assessment, the presence or absence of drug suggestions and the diagnosis of hereditary tumors were analyzed to evaluate the effectiveness of personalized treatment. RESULTS Efficacy of Molecular Diagnosis: CGP testing enabled molecular diagnoses such as IDH mutations and TERTp mutations, demonstrating its efficacy as an adjunct to diagnosis based on the WHO2021 classification. Personalized Medicine and Drug Recommendations: Mutations such as BRAF V600E, IDH1 R132H and TMB-high were detected. It was confirmed that 21% of cases could be treated with molecular targeted drugs or checkpoint inhibitors. Diagnosis of Hereditary Tumors: CGP testing identified presumed pathogenic germline variant, making it possible to intervene with in cases diagnosed with Lynch syndrome. CONCLUSION CGP testing plays a crucial role in individualized treatment and in the diagnosis and prevention of hereditary tumors. Collaboration with genetic medical departments is essential, and a robust system construction is required. Challenges include quality assurance of the testing technology, costs, and widespread adoption within the healthcare system, and collaboration for early detection of hereditary tumors and provision of information to families is particularly important.