Exomic analysis of myxoid liposarcomas, synovial sarcomas, and osteosarcomas

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

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)15-24
Number of pages10
JournalGenes Chromosomes and Cancer
Volume53
Issue number1
DOIs
StatePublished - Jan 1 2014

ASJC Scopus subject areas

  • Genetics
  • Cancer Research

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