Abstract
PURPOSE: Comprehensive genomic profiling testing (CGPT) using next–generation sequencing enables personalized treatment selection by identifying actionable molecular targets. In Japan, approximately 23% of glioblastoma patients undergoing CGPT are recommended targeted agents, and about 10% receive them. This study evaluates the results and clinical utility of CGPT in malignant glioma patients at our institution. METHODS: We retrospectively reviewed malignant glioma patients who underwent CGPT at our hospital from May 2024 to April 2025 (Ethics Review Number: 25R029). Data collected included age, gender, histological diagnosis, tumor cell content, genomic alterations, tumor mutation burden (TMB), recommended agents, and time from enrollment to expert panel (EP) review. RESULTS: Twenty patients underwent CGPT with EP review. Median age was 52 years; 16 (80%) were male. Median tumor cell content was 70%. Seventeen patients (85%) were tested with GenMineTOP and three (15%) with F1CDx. Twelve patients (60%) were recommended at least one therapeutic agent (including off-label or unapproved drugs in Japan); four patients (20%) ultimately received the recommended therapy. Germline mutations were found in 4 cases (20%). Among 9 patients with IDH wild-type glioblastoma, frequent alterations included TERT (n = 4), CDK4 (n = 3), TP53 (n = 2), FGFR (n = 2), EGFR (n = 2), BRAF (n = 2), BRCA1 (n = 1), NTRK2 (n = 1), and PDGFRA (n = 1). Fusion gene detection was 4. 7%, higher than previously reported. The median time from registration to EP was 36 days (range 27–49). CONCLUSION: In our cohort, the rate of recommended agents was relatively high. GenMineTOP accounted for most panels and may contribute to the higher fusion detection rate. Given the limited standard treatment options for malignant glioma and the poor prognosis of glioblastoma, early CGPT implementation may support more personalized and effective treatment strategies.