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Genetic mutations in recurrent and/or metastatic nasal carcinoma: A pathological comparison based on the Japanese national genomic profiling database
http://hdl.handle.net/10232/0002002527
http://hdl.handle.net/10232/0002002527658e6065-6ee0-40e4-938a-80d61081f550
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
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| アイテムタイプ | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2026-06-08 | |||||
| タイトル | ||||||
| タイトル | Genetic mutations in recurrent and/or metastatic nasal carcinoma: A pathological comparison based on the Japanese national genomic profiling database | |||||
| タイトル言語 | en | |||||
| 著者 |
永野, 広海
× 永野, 広海× Kiyama, Satoshi× 久徳, 貴之× Matsumoto, Hayato× 山下, 勝 |
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| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | cancer genomic profiling tests | |||||
| キーワード | ||||||
| 主題言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | EGFR | |||||
| キーワード | ||||||
| 主題言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | genetic mutations | |||||
| キーワード | ||||||
| 主題言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | KMT2D | |||||
| キーワード | ||||||
| 主題言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | nasal carcinoma | |||||
| キーワード | ||||||
| 主題言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | RICTOR | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| アクセス権 | ||||||
| アクセス権 | open access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
| 要約 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Introduction: 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. Aim: 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 × 10-³), 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. |
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| 内容記述言語 | en | |||||
| 収録雑誌名 |
en : Polish Journal of Otolaryngology 巻 80, 号 2, p. 31-38, 発行日 2026-02-23 |
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| 作成日 | ||||||
| 日付 | 2026-02-23 | |||||
| 日付タイプ | Issued | |||||
| ISSN | ||||||
| 収録物識別子タイプ | PISSN | |||||
| ISSN | 0030-6657 | |||||
| DOI | ||||||
| 関連タイプ | isIdenticalTo | |||||
| 識別子タイプ | DOI | |||||
| DOI | https://doi.org/10.5604/01.3001.0055.5235 | |||||
| 出版タイプ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| 公開者・出版者 | ||||||
| 出版者 | Index Copernicus Sp. z o.o. | |||||
| 出版者言語 | en | |||||