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

Yang, K ; Lui, WO ; Xie, YT ; Zhang, AJ ; Skytting, B ; Mandahl, Nils LU ; Larsson, C and Larsson, O (2002) In Oncogene 21(26). p.4181-4190
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 coexist 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... (More)
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 coexist 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. (Less)
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author
; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
double fusion, synovial sarcoma, SYT-SSX, double translocation
in
Oncogene
volume
21
issue
26
pages
4181 - 4190
publisher
Nature Publishing Group
external identifiers
  • pmid:12037676
  • wos:000176186000014
  • scopus:0037071884
ISSN
1476-5594
DOI
10.1038/sj.onc.1205569
language
English
LU publication?
yes
id
08984e0c-8dd7-4085-99e1-56fef2be4121 (old id 335422)
date added to LUP
2016-04-01 12:07:41
date last changed
2022-03-13 05:39:24
@article{08984e0c-8dd7-4085-99e1-56fef2be4121,
  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 coexist 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.}},
  author       = {{Yang, K and Lui, WO and Xie, YT and Zhang, AJ and Skytting, B and Mandahl, Nils and Larsson, C and Larsson, O}},
  issn         = {{1476-5594}},
  keywords     = {{double fusion; synovial sarcoma; SYT-SSX; double translocation}},
  language     = {{eng}},
  number       = {{26}},
  pages        = {{4181--4190}},
  publisher    = {{Nature Publishing Group}},
  series       = {{Oncogene}},
  title        = {{Co-existence of SYT-SSX1 and SYT-SSX2 fusions in synovial sarcomas}},
  url          = {{http://dx.doi.org/10.1038/sj.onc.1205569}},
  doi          = {{10.1038/sj.onc.1205569}},
  volume       = {{21}},
  year         = {{2002}},
}