WEKO3
アイテム
Genetic mutations in recurrent and/or metastatic nasopharyngeal carcinoma – an analysis of the Japanese national genomic profiling database
http://hdl.handle.net/10232/0002002528
http://hdl.handle.net/10232/00020025289a58deb6-3d50-4508-b4c2-5de62c4186fc
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
05_OP_4_2025_Nagano_ENG_FINAL.pdf (2.3 MB)
|
.png)
|
| 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 nasopharyngeal carcinoma – an analysis of the Japanese national genomic profiling database | |||||
| タイトル言語 | en | |||||
| 著者 |
永野, 広海
× 永野, 広海× Matsumoto, Hayato× Ando, Yumi× 内匠, 浩二× 中條, 正豊× 山下, 勝 |
|||||
| 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 | DNMT3A | |||||
| 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 | nasopharyngeal carcinoma | |||||
| キーワード | ||||||
| 主題言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | SPEN | |||||
| 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: Although genetic mutations have been reported in nasopharyngeal carcinoma (NPC), there are currently no scientifically validated treatments targeting these mutations. Furthermore, cancer genomic profiling tests are underutilized in clinical practice. This highlights an urgent need to explore the genomic landscape of NPC and its potential therapeutic implications. Aim: The aim of this study is to investigate the genetic mutational landscape of recurrent and/or metastatic nasopharyngeal carcinoma (NPC). Materials and methods: Data were analyzed for 67 consecutive patients with NPC registered at the Japan National Cancer Center, Center for Cancer Genomics and Advanced Therapeutics (C-CAT) between June 2019 and May 2024. Genetic mutations were determined by FoundationOne CDx or Liquid CDx next-generation sequencing. Survival of patients was determined by the log-rank test and a Cox proportional hazards model. Results: The top 10 mutations in NPC were CDKN2A (41.8%), CDKN2B (31.3%), TP53 (20.9%), KMT2D (20.9%), DNMT3A (19.4%), NOTCH1 (17.9%), STK11 (17.9%), MTAP (17.9%), EP300 (17.9%), TSC1 (13.4%), with 11.1 ±6.1 (mean ±SEM) mutations/individual. Mutations in KMT2D (p = 0.0127), DNMT3A (p = 1.41×10-7), GNAS (p = 3.64×10-11), SPEN (p = 0.0167), BRCA1 (p = 0.0379), and KMT2A (p = 2.06×10-5) were associated with a significantly worse prognosis, as determined by the log-rank test. The hazard ratios for cases with these mutations were 0.0122 (95% CI, 1.58×10-4-0.936, p = 0.046) for TP53, 1847.0 (95% CI, 4.619-7.386×105, p = 0.014) for DNMT3A, 126.7 (95% CI, 1.262-12720, p = 0.039) for BRCA2, 197.9 (95% CI, 2.844-13770, p = 0.015) for ALK, 34.22 (95% CI, 1.256-932.7, p = 0.036) for SPEN, and 6.445×10-4 (95% CI, 2.913×10-6-0.143, p = 7.6×10-3) for MYCL. Conclusions: This study identified genetic mutations in recurrent and/or metastatic NPC. Even in advanced cases, prognosis-related mutations were identified, underscoring the importance of cancer genomic profiling tests. |
|||||
| 内容記述言語 | en | |||||
| 収録雑誌名 |
en : Polish Journal of Otolaryngology 巻 79, 号 4, p. 34-39, 発行日 2025-07-02 |
|||||
| 作成日 | ||||||
| 日付 | 2025-07-02 | |||||
| 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/10.5604/01.3001.0055.1903 | |||||
| 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 | |||||
