小児脳腫瘍の遺伝子パネル検査

Cancer Genome Profiling of Pediatric Brain Tumor

Point

・小児脳腫瘍は従来の治療だけでは改善不十分であり，新規の分子標的薬や免疫療法の導入が期待される．

・包括的がんゲノムプロファイリング（CGP）検査などを通じて腫瘍遺伝子変異を同定し，エキスパートパネル検討を経て治療適応を評価する枠組みがある．

・CGP検査の普及後6年を経て制度および体制面の最適化が不可欠だとされ，出検タイミング制限緩和，エキスパートパネル要件などに係る12項目の改善提言がアカデミアよりまとめられている．

　Precision medicine in pediatric brain tumors aims to transcend traditional organ-based therapy by customizing treatment according to each patient's tumor molecular and genomic profiles. By leveraging comprehensive genomic profiling and expert panel reviews, actionable mutations may direct the use of targeted therapies or immunotherapies. In July 2025, three oncology societies in Japan released a joint briefing report outlining 12 reform proposals to optimize the cancer gene panel testing system. Included among these are timing restrictions on testing, loosening the expert panel criteria. These reforms are designed to enhance test utility, improve patient access, and ultimately improve survival outcomes of pediatric patients with brain tumors.