Exomic analysis of myxoid liposarcomas, synovial sarcomas, and osteosarcomas

Research output: Contribution to journalArticle


Bone and soft tissue sarcomas are a group of histologically heterogeneous and relatively uncommon tumors. To explore their genetic origins, we sequenced the exomes of 13 osteosarcomas, eight myxoid liposarcomas (MLPS), and seven synovial sarcomas (SYN). These tumors had few genetic alterations (median of 10.8). Nevertheless, clear examples of driver gene mutations were observed, including canonical mutations in TP53, PIK3CA, SETD2, AKT1, and subclonal mutation in FBXW7. Of particular interest were mutations in H3F3A, encoding the variant histone H3.3. Mutations in this gene have only been previously observed in gliomas. Loss of heterozygosity of exomic regions was extensive in osteosarcomas but rare in SYN and MLPS. These results provide intriguing nucleotide-level information on these relatively uncommon neoplasms and highlight pathways that help explain their pathogenesis. (c) 2013 Wiley Periodicals, Inc.


  • Christine G. Joseph
  • Heejung Hwang
  • Yuchen Jiao
  • Laura D. Wood
  • Isaac Kinde
  • Jian Wu
  • Nils Mandahl
  • Jinyong Luo
  • Ralph H. Hruban
  • Luis A. Diaz Jr
  • Tong-Chuan He
  • Bert Vogelstein
  • Kenneth W. Kinzler
  • Fredrik Mertens
  • Nickolas Papadopoulos
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Medical Genetics
Original languageEnglish
Pages (from-to)15-24
JournalGenes, Chromosomes and Cancer
Issue number1
Publication statusPublished - 2014
Publication categoryResearch