Novel SYT-SSX fusion transcript variants in synovial sarcoma.
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.
Dimitriadis
Euthimios
E
Department of Genetics, St Savvas Anticancer Hospital, 11522 Athens, Greece. dthimios@hotmail.com
Rontogianni
Demetra
D
Kyriazoglou
Anastasios
A
Takou
Anna
A
Frangia
Kostantina
K
Pandis
Nikolaos
N
Trangas
Theoni
T
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
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