Abstract
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.
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Acknowledgements
The authors would like to thank Dr Yaping Jin for help with the statistical analyses and Dr Armando Bartolazzi for valuable comments on the manuscript. This study was supported by The Swedish Cancer Foundation, the Milton Foundation, the Cornell Foundation, the Cancer Society in Stockholm, the Swedish Children Cancer Society, the Stockholm County Council, and the Torsten and Ragnar Söderberg Foundations.
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Yang, K., Lui, WO., Xie, Y. et al. Co-existence of SYT-SSX1 and SYT-SSX2 fusions in synovial sarcomas. Oncogene 21, 4181–4190 (2002). https://doi.org/10.1038/sj.onc.1205569
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DOI: https://doi.org/10.1038/sj.onc.1205569
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