論文

国際誌
2022年4月29日

The landscape of genetic aberrations in myxofibrosarcoma.

International journal of cancer
  • Yasuhide Takeuchi
  • Kenichi Yoshida
  • Adriane Halik
  • Annegret Kunitz
  • Hiromichi Suzuki
  • Nobuyuki Kakiuchi
  • Yusuke Shiozawa
  • Akira Yokoyama
  • Yoshikage Inoue
  • Tomonori Hirano
  • Tetsuichi Yoshizato
  • Kosuke Aoki
  • Yoichi Fujii
  • Yasuhito Nannya
  • Hideki Makishima
  • Berit Maria Pfitzner
  • Lars Bullinger
  • Masahiro Hirata
  • Keita Jinnouchi
  • Yuichi Shiraishi
  • Kenichi Chiba
  • Hiroko Tanaka
  • Satoru Miyano
  • Takeshi Okamoto
  • Hironori Haga
  • Seishi Ogawa
  • Frederik Damm
  • 全て表示

記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1002/ijc.34051

Myxofibrosarcoma (MFS) is a rare subtype of sarcoma, whose genetic basis is poorly understood. We analyzed 69 MFS cases using whole-genome (WGS), whole-exome (WES) and/or targeted-sequencing (TS). Newly sequenced genomic data were combined with additional deposited 116 MFS samples. WGS identified a high number of structural variations (SVs) per tumor most frequently affecting the TP53 and RB1 loci, 40% of tumors showed a BRCAness-associated mutation signature, and evidence of chromothripsis was found in all cases. Most frequently mutated/copy number altered genes affected known disease drivers such as TP53 (56.2%), CDKN2A/B (29.7%), RB1 (27.0%), ATRX (19.5%) and HDLBP (18.9%). Several previously unappreciated genetic aberrations including MUC17, FLG and ZNF780A were identified in more than 20% of patients. Longitudinal analysis of paired diagnosis and relapse time points revealed a 1.2-fold mutation number increase accompanied with substantial changes in clonal composition over time. Our study highlights the genetic complexity underlying sarcomagenesis of MFS.

リンク情報
DOI
https://doi.org/10.1002/ijc.34051
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/35484982
ID情報
  • DOI : 10.1002/ijc.34051
  • PubMed ID : 35484982

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