鼻癌における遺伝子変異：日本の全国ゲノムプロファイリングデータベースに基づく病理学的比較

Comprehensive genome profiling (CGP) has been reimbursed under Japan's national health insurance since 2019 for patients with advanced solid tumors, including head and neck cancers. Despite this, genomic insights into rare nasal carcinoma subtypes remain limited, hindering subtype-specific therapeutic strategies. To characterize the genetic mutational profiles of recurrent and/or metastatic nasal carcinoma across histological subtypes using data from the Japanese National Genomic Profiling Database. Materials and methods: Genomic data from 135 patients with nasal carcinoma were analyzed, including squamous cell carcinoma (SCC) (n = 48), neuroendocrine tumor (NET) (n = 52), adenocarcinoma (n = 20), and undifferentiated carcinoma (n = 15). All cases were registered in the Center for Cancer Genomics and Advanced Therapeutics (C-CAT), National Cancer Center Japan, between June 2019 and May 2025. Mutations were identified via FoundationOne CDx next-generation sequencing. Survival analysis employed the log-rank test and Cox proportional hazards model. Results: TP53 and KMT2D were frequently mutated across all subtypes. In SCC, KMT2D (p = 0.03), EGFR (p = 6.4 × 10-), and RICTOR (p = 0.03) mutations correlated with poor prognosis. No significant differences were found among subtypes in mutation count or tumor mutational burden (TMB). Discussion: Shared and distinct mutational patterns were observed, with prognostic relevance in SCC. These findings underscore the importance of genomic stratification in rare nasal carcinomas. Conclusions: CGP reveals key genetic drivers in nasal carcinoma, supporting its role in precision oncology and informing future subtype-specific therapeutic approaches.