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タイトル: | Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma. |
著者: | Seki, Masafumi Nishimura, Riki Yoshida, Kenichi Shimamura, Teppei Shiraishi, Yuichi Sato, Yusuke Kato, Motohiro Chiba, Kenichi Tanaka, Hiroko Hoshino, Noriko Nagae, Genta Shiozawa, Yusuke Okuno, Yusuke Hosoi, Hajime Tanaka, Yukichi Okita, Hajime Miyachi, Mitsuru Souzaki, Ryota Taguchi, Tomoaki Koh, Katsuyoshi Hanada, Ryoji Kato, Keisuke Nomura, Yuko Akiyama, Masaharu Oka, Akira Igarashi, Takashi Miyano, Satoru Aburatani, Hiroyuki Hayashi, Yasuhide Ogawa, Seishi Takita, Junko https://orcid.org/0000-0002-2452-6520 (unconfirmed) |
著者名の別形: | 関, 正史 吉田, 健一 油谷, 浩幸 小川, 誠司 滝田, 順子 |
キーワード: | Biological sciences Cancer Genetics |
発行日: | 3-Jul-2015 |
出版者: | Nature Publishing Group |
誌名: | Nature communications |
巻: | 6 |
論文番号: | 7557 |
抄録: | Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in childhood. Here we studied 60 RMSs using whole-exome/-transcriptome sequencing, copy number (CN) and DNA methylome analyses to unravel the genetic/epigenetic basis of RMS. On the basis of methylation patterns, RMS is clustered into four distinct subtypes, which exhibits remarkable correlation with mutation/CN profiles, histological phenotypes and clinical behaviours. A1 and A2 subtypes, especially A1, largely correspond to alveolar histology with frequent PAX3/7 fusions and alterations in cell cycle regulators. In contrast, mostly showing embryonal histology, both E1 and E2 subtypes are characterized by high frequency of CN alterations and/or allelic imbalances, FGFR4/RAS/AKT pathway mutations and PTEN mutations/methylation and in E2, also by p53 inactivation. Despite the better prognosis of embryonal RMS, patients in the E2 are likely to have a poor prognosis. Our results highlight the close relationships of the methylation status and gene mutations with the biological behaviour in RMS. |
記述: | 横紋筋肉腫におけるゲノム・エピゲノム異常の全体図を解明 -横紋筋肉腫を4群に分類-. 京都大学プレスリリース. 2015-07-03. |
著作権等: | This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
URI: | http://hdl.handle.net/2433/198761 |
DOI(出版社版): | 10.1038/ncomms8557 |
PubMed ID: | 26138366 |
関連リンク: | https://www.kyoto-u.ac.jp/ja/research-news/2015-07-03-0 |
出現コレクション: | 学術雑誌掲載論文等 |
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