Novel SYT-SSX fusion transcript variants in synovial sarcoma (Journal article)

Dimitriadis, E./ Rontogianni, D./ Kyriazoglou, A./ Takou, A./ Frangia, K./ Pandis, N./ Trangas, T.


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.
Institution and School/Department of submitter: Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών και Τεχνολογιών. Τμήμα Βιολογικών Εφαρμογών και Τεχνολογιών
Keywords: Adult,Amino Acid Sequence,Base Sequence,Head and Neck Neoplasms/*genetics/metabolism/pathology,Humans,Male,Molecular Sequence Data,Neoplasm Proteins/genetics,Oncogene Proteins, Fusion/*genetics,RNA, Messenger/genetics,Repressor Proteins/geneti
URI: http://olympias.lib.uoi.gr/jspui/handle/123456789/7766
ISSN: 1873-4456
Link: http://www.ncbi.nlm.nih.gov/pubmed/19837269
http://ac.els-cdn.com/S0165460809003318/1-s2.0-S0165460809003318-main.pdf?_tid=25849bcb1ef9a8bd30e0408c55a01a1f&acdnat=1337154688_a203313d077617ffcd309b04cd60a744
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