Exomic analysis of myxoid liposarcomas, synovial sarcomas, and osteosarcomas. Issue 1 (5th November 2013)

• Record Type: Journal Article
• Authors: Joseph, Christine G.; Hwang, Heejung; Jiao, Yuchen; Wood, Laura D.; Kinde, Isaac; Wu, Jian; Mandahl, Nils; Luo, Jinyong; Hruban, Ralph H.; Diaz, Luis A.; He, Tong‐Chuan; Vogelstein, Bert; Kinzler, Kenneth W.; Mertens, Fredrik; Papadopoulos, Nickolas
• Is Part Of: Genes, chromosomes & cancer. Volume 53:Issue 1(2014:Jan.)
• Page Start: 15
• Page End: 24
• Publication Date: 2013-11-05
• Subjects: Cancer -- Genetic aspects -- Periodicals; 616.994042
• DOI: 10.1002/gcc.22114
• Languages: English
• ISSNs: 1045-2257

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>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 <italic>TP53, PIK3CA, SETD2, </italic><italic>AKT1, </italic> and subclonal mutation in <italic>FBXW7</italic>. Of particular interest were mutations in <italic>H3F3A</italic>, 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. © 2013 Wiley Periodicals, Inc.</p> </abstract>