Year: 2013
Type: article
Study design: Observational Study
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.
Source: Genes Chromosomes and Cancer
DOI: 10.1002/gcc.22114
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
Awards: G109341029, G1165598027, G1176235484, Inflammatory Bowel Disease-Associated Malignant Transformation, G1869329471, Medical Scientist Training Program, G2147454981, G2899213437, G3001166584, G3169672230, G3479938378, G3644934386, Large-Scale Genetic Analyses of Human Cancer, The temporal epigenomic program of Barrett's neoplastic progression, The Role of microRNA Alterations in Barrett's Carcinogenesis, Genes from the FAP Locus, G8897054222
OpenAlex ID: W1900190441