Co-existence of SYT-SSX1 and SYT-SSX2 fusions in synovial sarcomas
Co-existence of SYT-SSX1 and SYT-SSX2 fusions in synovial sarcomas
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滑膜肉瘤中 SYT-SSX1 和 SYT-SSX2 融合共存
DOI：
10.1038/sj.onc.1205569
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发表时间：
2002
期刊：
影响因子：
8
通讯作者：
O. Larsson
中科院分区：
文献类型：
--
作者：
Ke Yang;W. Lui;Yuntao Xie;Anju Zhang;B. Skytting;N. Mandahl;C. Larsson;O. Larsson
The chromosomal translocation t (X; 18)(p11. 2; q11. 2) is tightly linked to the tumorigenesis of synovial sarcoma. Through this translation the SYT gene on chromosome 18 is fused with a testis/cancer antigen gene on the X chromosome, generating either a SYT-SSX1, SYT-SSX2, or less often a SYT-SSX4 fusion gene. It has been anticipated that the individual synovial sarcoma carries only one of these variants, however, in this study we demonstrated that SYT-SSX1 and SYT-SSX2 co-exist in a significant proportion of the cases. From 121 SYT-SSX positive primary tumors, co-expression of SYT-SSX1 and SYT-SSX2 was seen in 12 cases (10%), which were characterized in further detail both at the RNA, DNA and chromosomal level. In all 12 cases the SYT-SSX1 and SYT-SSX2 fusions resulted in identical SYT-SSX fusion transcripts. However, at the genomic level the translocations were different, and most likely occurred between variable intronic sites in the target genes. By interphase FISH analyses of 10 cases SYT-SSX2 translocations were found to be the most abundant in all but one of the cases, in which SYT-SSX1 was predominating. The findings reveal a new heterogenous feature of synovial sarcoma, accounting for approximately 10% of all cases, which may shed light on the molecular genetic mechanisms behind translocations in general, and on the etiology of synovial sarcoma in particular.
DOI：
10.1073/pnas.061036798
发表时间：
2001-03-27
影响因子：
11.1
作者：
Nagai, M;Tanaka, S;Nagashima, K
通讯作者：
Nagashima, K