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  • Oncogenomics
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Co-existence of SYT-SSX1 and SYT-SSX2 fusions in synovial sarcomas

Oncogene volume 21, pages 4181–4190 (2002)Cite this article

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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Authors and Affiliations

  1. Department of Oncology and Pathology, Karolinska Hospital CCK R8:04, Stockohlm, SE-171 76, Sweden

    Ke Yang, Yuntao Xie, Anju Zhang & Olle Larsson

  2. Department of Molecular Medicine, Karolinska Hospital CMM L8:01, Stockholm, SE-171 76, Sweden

    Weng-Onn Lui & Catharina Larsson

  3. Department of Orthopaedics, Karolinska Institutet, Stockholm Söder Hospital, Stockholm, SE-118 83, Sweden

    Björn Skytting

  4. Department of Clinical Genetics, University Hospital, Lund, SE-221 85, Sweden

    Nils Mandahl

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  1. Ke Yang
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Correspondence to Olle Larsson.

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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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