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Genes Chromosomes Cancer. 2014 Jan;53(1):15-24. doi: 10.1002/gcc.22114. Epub 2013 Nov 5.

Exomic analysis of myxoid liposarcomas, synovial sarcomas, and osteosarcomas.

Author information

1
Ludwig Center, the Howard Hughes Medical Institutions, and the Departmentof Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
2
Department of Clinical Genetics, University and Regional Laboratories, Lund University, SE-22185 Lund, Sweden.
3
Ministry of Educations Key Laboratory of Clinical Diagnostic Medicine, Chongqinq 400046, China.
4
The University of Chicago Medical Center, Chicago, IL 60637.
#
Contributed equally

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.

PMID:
24190505
PMCID:
PMC4007004
DOI:
10.1002/gcc.22114
[Indexed for MEDLINE]
Free PMC Article

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