title: Novel SYT-SSX fusion transcript variants in synovial sarcoma.
abstract: Synovial sarcoma (SS) is characterized by the t(X;18)(p11.2;q11.2) chromosomal translocation detected in >95% of cases. Through this translocation, one of the SYT genes, SYT4 on chromosome 18, is fused to one of the SSX genes on chromosome X. SYT4-SSX1 is the most common fusion subtype, present in approximately two thirds of the cases, followed by SYT4-SSX2 and, very rarely, SYT4-SSX4. Variant fusion transcripts occur less often, and most of the reported cases are the result of small insertions. Described here is a novel fusion variant containing a small deletion resulting in an alternative reading frame of the SSX part of the fusion gene. This fusion transcript may provide further insight into the oncogenic function of the SSX partner of the fusion gene.
authors.affiliation: Department of Genetics, St Savvas Anticancer Hospital, 11522 Athens, Greece. dthimios@hotmail.com
authors.forename: Euthimios
authors.initials: E
authors.lastname: Dimitriadis
authors.forename: Demetra
authors.initials: D
authors.lastname: Rontogianni
authors.forename: Anastasios
authors.initials: A
authors.lastname: Kyriazoglou
authors.forename: Anna
authors.initials: A
authors.lastname: Takou
authors.forename: Kostantina
authors.initials: K
authors.lastname: Frangia
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Pandis
authors.forename: Theoni
authors.initials: T
authors.lastname: Trangas
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D006258:Head and Neck Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013584:Sarcoma, Synovial / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D050857:Synaptotagmins / Q000235:genetics
chemical_list: D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger; D012097:Repressor Proteins; C116512:SYT-SSX fusion protein; C494292:SYT4 protein, human; D050857:Synaptotagmins; C093962:synovial sarcoma X breakpoint proteins