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Title: Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma.
Authors: 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  kyouindb  KAKEN_id
Takita, Junko  kyouindb  KAKEN_id  orcid (unconfirmed)
Author's alias: 関, 正史
吉田, 健一
油谷, 浩幸
小川, 誠司
滝田, 順子
Keywords: Biological sciences
Issue Date: 3-Jul-2015
Publisher: Nature Publishing Group
Journal title: Nature communications
Volume: 6
Thesis number: 7557
Abstract: 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.
Description: 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.
Rights: 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
DOI(Published Version): 10.1038/ncomms8557
PubMed ID: 26138366
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