文献

J-GLOBAL ID：201902214164730482   整理番号：19A0647922

上衣腫の分子分類の重要性: C11orf95-relA融合陰性テント上上衣腫は腫瘍の異種群である【JST・京大機械翻訳】

Significance of molecular classification of ependymomas: C11orf95-RELA fusion-negative supratentorial ependymomas are a heterogeneous group of tumors

著者 (81件)： Fukuoka Kohei (Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan) ,  Fukuoka Kohei (Department of Neuro-Oncology/Neurosurgery, Saitama Medical University International Medical Center, Hidaka, Japan) ,  Kanemura Yonehiro (Department of Biomedical Research and Innovation, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization|, Osaka, Japan) ,  Kanemura Yonehiro (Department of Neurosurgery, Osaka National Hospital, National Hospital Organization, Osaka, Japan) ,  Shofuda Tomoko (Department of Biomedical Research and Innovation, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization|, Osaka, Japan) ,  Fukushima Shintaro (Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan) ,  Yamashita Satoshi (Division of Epigenomics, National Cancer Center Research Institute, Tokyo, Japan) ,  Narushima Daichi (Department of Bioinformatics, National Cancer Center Research Institute, Tokyo, Japan) ,  Kato Mamoru (Department of Bioinformatics, National Cancer Center Research Institute, Tokyo, Japan) ,  Honda-Kitahara Mai (Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan) ,  Ichikawa Hitoshi (Department of Clinical Genomics, National Cancer Center Research Institute, Tokyo, Japan) ,  Kohno Takashi (Division of Genome Biology, National Cancer Center Research Institute, Tokyo, Japan) ,  Sasaki Atsushi (Department of Pathology, Saitama Medical University, Saitama, Japan) ,  Hirato Junko (Department of Pathology, Gunma University Hospital, Maebashi, Japan) ,  Hirose Takanori (Department of Diagnostic Pathology, Hyogo Cancer Center, Kobe, Japan) ,  Komori Takashi (Department of Laboratory Medicine and Pathology (Neuropathology), Tokyo Metropolitan Neurological Hospital, Tokyo, Japan) ,  Satomi Kaishi (Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan) ,  Satomi Kaishi (Department of Pathology and Clinical Laboratories, National Cancer Center Hospital, Tokyo, Japan) ,  Yoshida Akihiko (Department of Pathology and Clinical Laboratories, National Cancer Center Hospital, Tokyo, Japan) ,  Yamasaki Kai (Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan) ,  Yamasaki Kai (Department of Pediatric Hematology and Oncology, Osaka City General Hospital, Osaka, Japan) ,  Nakano Yoshiko (Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan) ,  Nakano Yoshiko (Department of Pediatric Hematology and Oncology, Osaka City General Hospital, Osaka, Japan) ,  Takada Ai (Department of Biomedical Research and Innovation, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization|, Osaka, Japan) ,  Nakamura Taishi (Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan) ,  Nakamura Taishi (Department of Neurosurgery, Graduate School of Medicine, Yokohama City University, Fukuura, Japan) ,  Takami Hirokazu (Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan) ,  Takami Hirokazu (Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan) ,  Matsushita Yuko (Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan) ,  Matsushita Yuko (Department of Neurosurgery and Neurooncology, National Cancer Center Hospital, Tokyo, Japan) ,  Suzuki Tomonari (Department of Neuro-Oncology/Neurosurgery, Saitama Medical University International Medical Center, Hidaka, Japan) ,  Nakamura Hideo (Department of Neurosurgery, Kurume University School of Medicine, Kurume, Japan) ,  Makino Keishi (Department of Neurosurgery, Faculty of Life Sciences, Kumamoto University Graduate School, Kumamoto, Japan) ,  Sonoda Yukihiko (Department of Neurosurgery, Yamagata University School of Medicine, Yamagata, Japan) ,  Sonoda Yukihiko (Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Japan) ,  Saito Ryuta (Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Japan) ,  Tominaga Teiji (Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Japan) ,  Matsusaka Yasuhiro (Department of Pediatric Neurosurgery, Osaka City General Hospital, Osaka, Japan) ,  Kobayashi Keiichi (Department of Neurosurgery, Kyorin University Faculty of Medicine, Tokyo, Japan) ,  Nagane Motoo (Department of Neurosurgery, Kyorin University Faculty of Medicine, Tokyo, Japan) ,  Furuta Takuya (Department of Neurosurgery, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan) ,  Furuta Takuya (Department of Pathology, Kurume University, Kurume, Japan) ,  Nakada Mitsutoshi (Department of Neurosurgery, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan) ,  Narita Yoshitaka (Department of Neurosurgery and Neurooncology, National Cancer Center Hospital, Tokyo, Japan) ,  Hirose Yuichi (Department of Neurosurgery, Fujita Health University, Toyoake, Japan) ,  Ohba Shigeo (Department of Neurosurgery, Fujita Health University, Toyoake, Japan) ,  Wada Akira (Department of Neurosurgery, Showa University School of Medicine, Tokyo, Japan) ,  Shimizu Katsuyoshi (Department of Neurosurgery, Showa University School of Medicine, Tokyo, Japan) ,  Kurozumi Kazuhiko (Department of Neurological Surgery, Dentistry and Pharmaceutical Sciences, Okayama University Graduate School of Medicine, Okayama, Japan) ,  Date Isao (Department of Neurological Surgery, Dentistry and Pharmaceutical Sciences, Okayama University Graduate School of Medicine, Okayama, Japan) ,  Fukai Junya (Department of Neurological Surgery, Wakayama Medical University, Wakayama, Japan) ,  Miyairi Yousuke (Department of Neurosurgery, Nagano Children’s Hospital, Nagano, Japan) ,  Kagawa Naoki (Department of Neurosurgery, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Kawamura Atsufumi (Department of Neurosurgery, Hyogo Prefectural Kobe Children’s Hospital, Kobe, Japan) ,  Yoshida Makiko (Department of Pathology, Hyogo Prefectural Kobe Children’s Hospital, Kobe, Japan) ,  Nishida Namiko (Department of Neurosurgery, Tazuke Kofukai Foundation, Medical Research Institute and Kitano Hospital, Osaka, Japan) ,  Wataya Takafumi (Department of Neurosurgery, Shizuoka Children’s Hospital, Shizuoka, Japan) ,  Yamaoka Masayoshi (Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan) ,  Tsuyuguchi Naohiro (Department of Neurosurgery, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Uda Takehiro (Department of Neurosurgery, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Takahashi Mayu (Department of Neurosurgery, University of Occupational and Environmental Health, Kitakyushu, Japan) ,  Nakano Yoshiteru (Department of Neurosurgery, University of Occupational and Environmental Health, Kitakyushu, Japan) ,  Akai Takuya (Department of Neurosurgery, Kanazawa Medical University, Kanazawa, Japan) ,  Akai Takuya (Department of Neurosurgery, Toyama University Hospital, Toyama, Japan) ,  Izumoto Shuichi (Department of Neurosurgery, Faculty of Medicine, Kinki University, Osaka, Japan) ,  Nonaka Masahiro (Department of Neurosurgery, Kansai Medical University, Hirakata, Japan) ,  Yoshifuji Kazuhisa (Department of Neurosurgery, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan) ,  Kodama Yoshinori (Department of Pathology and Applied Neurobiology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan) ,  Kodama Yoshinori (Department of Pathology, Osaka National Hospital, National Hospital Organization, Osaka, Japan) ,  Mano Masayuki (Department of Pathology, Osaka National Hospital, National Hospital Organization, Osaka, Japan) ,  Ozawa Tatsuya (Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan) ,  Ramaswamy Vijay (Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Canada) ,  Taylor Michael D. (Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Canada) ,  Taylor Michael D. (Division of Neurosurgery, Hospital for Sick Children, Toronto, Canada) ,  Ushijima Toshikazu (Division of Epigenomics, National Cancer Center Research Institute, Tokyo, Japan) ,  Shibui Soichiro (Department of Neurosurgery, Teikyo University Hospital, Mizonokuchi, Japan) ,  Yamasaki Mami (Department of Pediatric Neurosurgery, Takatsuki General Hospital, Takatsuki, Japan) ,  Arai Hajime (Department of Neurosurgery, Juntendo University, Tokyo, Japan) ,  Sakamoto Hiroaki (Department of Pediatric Neurosurgery, Osaka City General Hospital, Osaka, Japan) ,  Nishikawa Ryo (Department of Neuro-Oncology/Neurosurgery, Saitama Medical University International Medical Center, Hidaka, Japan) ,  Ichimura Koichi (Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan)
資料名： Acta Neuropathologica Communications (Web)  (Acta Neuropathologica Communications (Web))
巻： 6  号： 1  ページ： 134  発行年： 2018年 
JST資料番号： U7296A  ISSN： 2051-5960  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： イギリス (GBR)  言語： 英語 (EN)

抄録/ポイント： 上衣腫瘍の広範な分子解析により,テント上および後部窩上衣腫は異なる分子プロファイルを有し,異なる疾患である可能性があることが明らかになった。テント上上衣腫(ST-EPN)のサブセットにおけるC11orf95-RELA融合遺伝子の存在は,分子サブグループの存在を示した。しかしながら,RELA融合陰性上衣腫の病因は,不明のままである。これらの腫瘍の分子的病因を調査し,上衣腫瘍の分子分類を検証するために,著者らは,日本小児分子神経腫瘍学グループにおける107人の患者から113の局所的に診断された上衣腫瘍の完全な分子解析を行った。すべての腫瘍を組織病理学的にレビューし,12の腫瘍を非上衣腫として再分類した。RT-PCR,FISH,およびRNA配列決定の組合せは,29の組織学的に確認されたST-EPN症例の19においてRELA融合を同定したが,もう一つの症例はメチル化分類器(68.9%)を介してependymoma RELA融合陽性と診断された。9つのRELA融合陰性ST-EPN症例の中で,YAP1融合,BCORタンデム重複,EP300-BCORL1融合またはFOXO1-STK24融合のいずれかが,単一症例で検出された。メチル化分類はこのグループ内で一貫した分子クラスを同定しなかった。ゲノムワイドメチル化プロファイリングにより,PF-EPN-A(PFA)とPF-EPN-B(PFB)への後部fossa ependymoma(PF-EPN)のサブ分類に成功した。Cox回帰を用いた多変量解析は,PFAが患者生存と独立して関連する唯一の分子マーカーであることを確認した。3つの遺伝子,CRIP1,DRD4およびlbx2のメチル化状態を用いて,100%の特異性を有するPFBサブグループを決定するために,臨床的に適用可能なピロシークエンシング分析を開発した。著者らの結果は,上衣腫の診断における分子分類の意義を強調した。RelA融合陰性ST-EPNは,既存の分子サブグループのいずれにも落下せず,単一カテゴリーを形成しない腫瘍の不均一グループであると思われる。Copyright 2019 The Author(s) All rights reserved. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： *上衣腫 ,  病因 ,  症例報告 ,  遺伝子 ,  子供 ,  メチル化 ,  *上衣 ,  RNA【核酸】 ,  *腫瘍 ,  部分集合 ,  ヒト ,  多変量解析 ,  ピロシークエンス法 ,  分子マーカー ,  融合遺伝子 ,  *脳 ,  *脳室
準シソーラス用語： 特異性 ,  プロファイリング , 【Automatic Indexing@JST】

著者キーワード (4件)： 上衣腫瘍 ,  融合遺伝子 ,  遺伝子再配列 ,  分子分類

分類 (1件)： 神経系の腫よう  (GN04000V)

引用文献 (38件)：

• Acta Neuropathol; Upregulating mutations in the TERT promoter commonly occur in adult malignant gliomas and are strongly associated with total 1p19q loss; H Arita, Y Narita, S Fukushima, K Tateishi, Y Matsushita, A Yoshida, Y Miyakita, M Ohno, VP Collins, N Kawahara, S Shibui, K Ichimura; 126; 2013; 267-276; 10.1007/s00401-013-1141-6; citation_id=CR1
• Brain Tumor Pathol; Development of a robust and sensitive pyrosequencing assay for the detection of IDH1/2 mutations in gliomas; H Arita, Y Narita, Y Matsushita, S Fukushima, A Yoshida, H Takami, Y Miyakita, M Ohno, S Shibui, K Ichimura; 32; 2015; 22-30; 10.1007/s10014-014-0186-0; citation_id=CR2
• Acta Neuropathol; TERT promoter mutations rather than methylation are the main mechanism for TERT upregulation in adult gliomas; H Arita, Y Narita, H Takami, S Fukushima, Y Matsushita, A Yoshida, Y Miyakita, M Ohno, S Shibui, K Ichimura; 126; 2013; 939-941; 10.1007/s00401-013-1203-9; citation_id=CR3
• Nature; DNA methylation-based classification of central nervous system tumours; D Capper, DTW Jones, M Sill, V Hovestadt, D Schrimpf, D Sturm, C Koelsche, F Sahm, L Chavez, DE Reuss, A Kratz, AK Wefers, K Huang, KW Pajtler, L Schweizer, D Stichel, A Olar, NW Engel, K Lindenberg, PN Harter, AK Braczynski, KH Plate, H Dohmen, BK Garvalov, R Coras, A Holsken, E Hewer, M Bewerunge-Hudler, M Schick, R Fischer, R Beschorner, J Schittenhelm, O Staszewski, K Wani, P Varlet, M Pages, P Temming, D Lohmann, F Selt, H Witt, T Milde, O Witt, E Aronica, F Giangaspero, E Rushing, W Scheurlen, C Geisenberger, FJ Rodriguez, A Becker, M Preusser, C Haberler, R Bjerkvig, J Cryan, M Farrell, M Deckert, J Hench, S Frank, J Serrano, K Kannan, A Tsirigos, W Bruck, S Hofer, S Brehmer, M Seiz-Rosenhagen, D Hanggi, V Hans, S Rozsnoki, JR Hansford, P Kohlhof, BW Kristensen, M Lechner, B Lopes, C Mawrin, R Ketter, A Kulozik, Z Khatib, F Heppner, A Koch, A Jouvet, C Keohane, H Muhleisen, W Mueller, U Pohl, M Prinz, A Benner, M Zapatka, NG Gottardo, PH Driever, CM Kramm, HL Muller, S Rutkowski, K von Hoff, MC Fruhwald, A Gnekow, G Fleischhack, S Tippelt, G Calaminus, CM Monoranu, A Perry, C Jones, TS Jacques, B Radlwimmer, M Gessi, T Pietsch, J Schramm, G Schackert, M Westphal, G Reifenberger, P Wesseling, M Weller, VP Collins, I Blumcke, M Bendszus, J Debus, A Huang, N Jabado, PA Northcott, W Paulus, A Gajjar, GW Robinson, MD Taylor, Z Jaunmuktane, M Ryzhova, M Platten, A Unterberg, W Wick, MA Karajannis, M Mittelbronn, T Acker, C Hartmann, K Aldape, U Schuller, R Buslei, P Lichter, M Kool, C Herold-Mende, DW Ellison, M Hasselblatt, M Snuderl, S Brandner, A Korshunov, A von Deimling, SM Pfister; 555; 2018; 469-474; 10.1038/nature26000; citation_id=CR4
• The Lancet Oncology; Methylation of the TERT promoter and risk stratification of childhood brain tumours: an integrative genomic and molecular study; P Castelo-Branco, S Choufani, S Mack, D Gallagher, C Zhang, T Lipman, N Zhukova, EJ Walker, D Martin, D Merino, JD Wasserman, C Elizabeth, N Alon, L Zhang, V Hovestadt, M Kool, DTW Jones, G Zadeh, S Croul, C Hawkins, J Hitzler, JCY Wang, S Baruchel, PB Dirks, D Malkin, S Pfister, MD Taylor, R Weksberg, U Tabori; 14; 2013; 534-542; 10.1016/s1470-2045(13)70110-4; citation_id=CR5

タイトルに関連する用語 (7件)： 上衣腫 ,  分子 ,  分類 ,  重要性 ,  RelA ,  融合 ,  腫瘍