title: Are there geographical differences in the frequency of SYT-SSX1 and SYT-SSX2 chimeric transcripts in synovial sarcoma?
abstract: Synovial sarcoma (SS) is characterized by the t(X;18)(p11.2;q11.2) chromosomal translocation, which results in generating either SYT-SSX1, SYT-SSX2 or, infrequently, SYT-SSX4 fusion gene. The ratio of SYT-SSX1:SYT-SSX2 fusions is close to 2:1 in the majority of studies, and SYT-SSX2 fusion has been only rarely observed in biphasic SS. In the present study, we compared two series of patients with SS, Slovenian (37 cases) and Dutch (14 cases), with respect to clinical, pathological and molecular findings. The two groups did not differ with regard to clinicopathological features. Whereas the frequency of different SYT-SSX fusions in the Dutch group was similar to that reported in the literature, we found an unexpectedly high number of tumors with SYT-SSX2 fusion in the Slovenian group. The ratio of SYT-SSX1:SYT-SSX2 fusion was 7:18 for monophasic and 2:7 for biphasic tumors in the Slovenian group. This distribution differs significantly from that observed in the Dutch group in the present study (P = 0.041) as well as from data reported in the recent large multi-institutional study on 243 patients (P = 0.0001). Our findings indicate possible geographical differences in the frequency of two SYT-SSX fusion transcripts in patients with synovial sarcoma.
authors.affiliation: Department of Pathology, Institute of Oncology, Zaloska 2, SI-1000 Ljubljana, Slovenia. inkokovic@siol.net
authors.forename: Ira
authors.initials: I
authors.lastname: Koković
authors.forename: Matej
authors.initials: M
authors.lastname: Bracko
authors.forename: Rastko
authors.initials: R
authors.lastname: Golouh
authors.forename: Marjolijn
authors.initials: M
authors.lastname: Ligtenberg
authors.forename: Han J J M
authors.initials: HJ
authors.lastname: van Krieken
authors.forename: Petra
authors.initials: P
authors.lastname: Hudler
authors.forename: Radovan
authors.initials: R
authors.lastname: Komel
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D002648:Child; D002678:Chimera; D005260:Female; D005828:Genetics, Population; D005843:Geography; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009426:Netherlands; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D013584:Sarcoma, Synovial / Q000235:genetics*; D017524:Slovenia; D012983:Soft Tissue Neoplasms / Q000235:genetics*
chemical_list: D015514:Oncogene Proteins, Fusion; C116512:SYT-SSX fusion protein