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Exomic analysis of myxoid liposarcomas, synovial sarcomas, and osteosarcomas

Joseph, Christine G.; Hwang, Heejung; Jiao, Yuchen; Wood, Laura D.; Kinde, Isaac; Wu, Jian; Mandahl, Nils LU ; Luo, Jinyong; Hruban, Ralph H. and Diaz Jr, Luis A., et al. (2014) In Genes, Chromosomes and Cancer 53(1). p.15-24
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... (More)
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. (Less)
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published
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Genes, Chromosomes and Cancer
volume
53
issue
1
pages
15 - 24
publisher
John Wiley & Sons
external identifiers
  • wos:000337737300002
  • scopus:84887619842
ISSN
1045-2257
DOI
10.1002/gcc.22114
language
English
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yes
id
a72527c6-270c-4e60-b918-4e4d96057167 (old id 4609831)
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2014-09-01 07:46:15
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2017-10-22 03:15:21
@article{a72527c6-270c-4e60-b918-4e4d96057167,
  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. (c) 2013 Wiley Periodicals, Inc.},
  author       = {Joseph, Christine G. and Hwang, Heejung and Jiao, Yuchen and Wood, Laura D. and Kinde, Isaac and Wu, Jian and Mandahl, Nils and Luo, Jinyong and Hruban, Ralph H. and Diaz Jr, Luis A. and He, Tong-Chuan and Vogelstein, Bert and Kinzler, Kenneth W. and Mertens, Fredrik and Papadopoulos, Nickolas},
  issn         = {1045-2257},
  language     = {eng},
  number       = {1},
  pages        = {15--24},
  publisher    = {John Wiley & Sons},
  series       = {Genes, Chromosomes and Cancer},
  title        = {Exomic analysis of myxoid liposarcomas, synovial sarcomas, and osteosarcomas},
  url          = {http://dx.doi.org/10.1002/gcc.22114},
  volume       = {53},
  year         = {2014},
}