Exomic analysis of myxoid liposarcomas, synovial sarcomas, and osteosarcomas

被引：85

作者：

Joseph, Christine G. ^{[1
,2
]}

Hwang, Heejung ^{[1
,2
]}

Jiao, Yuchen ^{[1
,2
]}

Wood, Laura D. ^{[1
,2
]}

Kinde, Isaac ^{[1
,2
]}

Wu, Jian ^{[1
,2
]}

Mandahl, Nils ^{[3
]}

Luo, Jinyong ^{[4
]}

Hruban, Ralph H. ^{[1
,2
]}

Diaz, Luis A., Jr. ^{[1
,2
]}

He, Tong-Chuan ^{[5
]}

Vogelstein, Bert ^{[1
,2
]}

Kinzler, Kenneth W. ^{[1
,2
]}

Mertens, Fredrik ^{[3
]}

Papadopoulos, Nickolas ^{[1
,2
]}

机构：

[1] Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Ludwig Ctr, Baltimore, MD 21287 USA

[2] Johns Hopkins Univ, Sch Med, Dept Pathol, Baltimore, MD 21287 USA

[3] Lund Univ, Univ & Reg Labs, Dept Clin Genet, SE-22185 Lund, Sweden

[4] Minist Educ, Key Lab Clin Diagnost Med, Chongqinq 400046, Peoples R China

[5] Univ Chicago, Med Ctr, Chicago, IL 60637 USA

来源：

GENES CHROMOSOMES & CANCER | 2014年 / 53卷 / 01期

关键词：

GENOMIC ANALYSIS; MUTATIONS; P53; IDENTIFICATION; TUMORS; GENES; RARE;

D O I：

10.1002/gcc.22114

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 [肿瘤学];

摘要：

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.

引用

页码：15 / 24

页数：10

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