Synovial sarcoma causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Causes
Synovial sarcoma is defined by the presence of the SYT-SSX fusion gene, the result of a translocation event between the SYT gene on chromosome 18 and one of 3 SSX genes (SSX1, SSX2 and SSX4) on chromosome X. The diagnosis of synovial sarcoma is typically made based on histology and is confirmed by the presence of t(X;18). The SYT-SSX fusion protein that results from this translocation brings together the transcriptional activating domain of SYT and the transcriptional repressor domains of SSX. SYT-SSX is thought to underlie synovial sarcoma pathogenesis through dysregulation of gene expression. Gene expression studies have identified a pattern of gene expression typical of synovial sarcoma. The exact function(s) of the fusion protein remain unclear. Recent research has offered some insight into synovial sarcoma development. The genes identified in expression studies resemble those activated in developemnt of the neural crest, an area of the vertebrate embryo that eventually gives rise to various tissues, including nerves and cartilage. SYT-SSX has be shown to interact with transcriptional regulators involved in cell differentiation and proliferation. Interestingly, when inserted into non-synovial sarcoma cell lines, SYT-SSX has been shown to be tumorigenic in some but not others, suggesting that SYT-SSX oncogenesis occurs only in an approriate cellular context. Further investigation of the molecular mechanisms underlying SYT-SSX function will likely lead to not only a better understanding of this disease but improved diagnostic and treatment tools for this tumor.