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Genetic mutations in recurrent and/or metastatic squamous cell carcinoma of unknown primary : an analysis of the Japanese national genomic profiling database
http://hdl.handle.net/10232/0002002789
http://hdl.handle.net/10232/000200278983ceec74-4569-42dd-9dec-18c4e2d9ae44
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
05_OP_6_2025_Nagano_ENG_FINAL.pdf (2.2 MB)
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| アイテムタイプ | 学術雑誌論文 / Journal Article(1) | |||||||||||||||||||
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| 公開日 | 2026-08-06 | |||||||||||||||||||
| タイトル | ||||||||||||||||||||
| タイトル | Genetic mutations in recurrent and/or metastatic squamous cell carcinoma of unknown primary : 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
e-Rad_Researcher
60613148
× 喜山, 敏志
× 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 | BRCA2 | |||||||||||||||||||
| 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 | genetic mutations | |||||||||||||||||||
| キーワード | ||||||||||||||||||||
| 主題言語 | en | |||||||||||||||||||
| 主題Scheme | Other | |||||||||||||||||||
| 主題 | squamous cell carcinoma of unknown primary | |||||||||||||||||||
| 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 squamous cell carcinoma of unknown primary (SCCUP), no scientifically validated targeted therapies are currently available. Moreover, cancer genomic profiling tests remain underutilized in clinical practice. These issues highlight the urgent need to elucidate the genomic landscape of SCCUP and its potential therapeutic relevance. Aim: This study aimed to characterize the mutational profile of recurrent and/or metastatic SCCUP. Materials and methods: Data were analyzed for 170 consecutive patients with SCCUP registered at the Japan National Cancer Center, Center for Cancer Genomics and Advanced Therapeutics (C-CAT) between June 2019 and August 2025. Genetic mutations were determined by next-generation sequencing. The survival of patients was determined by the log-rank test and a Cox proportional hazards model. Results: The top 10 mutations in SCCUP were TP53 (57.6%), CDKN2A (37.0%), PIK3CA (32.9%), KMT2D (27.6%), CDKN2B (20.6%), NOTCH3 (20.6%), BRAC2 (20.0%), PTEN (16.5%), NOTCH1 (15.9%), and RICTOR (15.9%), with 20.2 ±10.1 (mean ±SEM) mutations/ individual. Mutation in BRCA2 (p = 0.0347) was associated with a significantly worse prognosis, as determined by the log-rank test. The hazard ratios for cases with this mutation was 2.3450 (95% CI, 1.2220–4.499, p = 0.01037) for BRCA2. Conclusions: This study delineated the mutational spectrum of recurrent and/or metastatic SCCUP. Even in advanced disease, prognostically relevant mutations were identified, emphasizing the clinical importance of cancer genomic profiling tests. |
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| 内容記述言語 | en | |||||||||||||||||||
| 収録雑誌名 |
en : Polish Journal of Otolaryngology 巻 79, 号 6, p. 29-34, 発行日 2025-11-26 |
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| 作成日 | ||||||||||||||||||||
| 日付 | 2025-11-26 | |||||||||||||||||||
| 日付タイプ | Issued | |||||||||||||||||||
| ISSN | ||||||||||||||||||||
| 収録物識別子タイプ | PISSN | |||||||||||||||||||
| ISSN | 00306657 | |||||||||||||||||||
| DOI | ||||||||||||||||||||
| 関連タイプ | isIdenticalTo | |||||||||||||||||||
| 識別子タイプ | DOI | |||||||||||||||||||
| DOI | https://doi.org/10.5604/01.3001.0055.3303 | |||||||||||||||||||
| 権利 | ||||||||||||||||||||
| 権利情報 | Some rights reserved: Polish Society of Otorhinolaryngologists Head and Neck Surgeons. Published by Index Copernicus Sp. z o.o. | |||||||||||||||||||
| 権利情報の言語 | en | |||||||||||||||||||
| 権利 | ||||||||||||||||||||
| 権利情報Resource | https://creativecommons.org/licenses/by-nc/4.0/Legalcode | |||||||||||||||||||
| 権利情報 | This material is available under the Creative Commons – Attribution NonCommercial 4.0 International (CC BY-NC 4.0). | |||||||||||||||||||
| 権利情報の言語 | en | |||||||||||||||||||
| 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 | |||||||||||||||||||
