学術雑誌論文 Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma.

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

62015-07-03
ISSN:2041-1723
内容記述
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.
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.
本文を読む

http://repository.kulib.kyoto-u.ac.jp/dspace/bitstream/2433/198761/1/ncomms8557.pdf

このアイテムのアクセス数:  回

その他の情報