Molecular Biology
Most, and perhaps all, cases of synovial sarcoma are associated with a reciprocal translocation t(x;18)(p11.2;q11.2). There is some debate about whether the molecular observation itself is definitional of synovial sarcoma.
The diagnosis of synovial sarcoma is typically made based on histology and is confirmed by the presence of t(X;18). This translocation event between the SS18 gene on chromosome 18 and one of 3 SSX genes (SSX1, SSX2 and SSX4) on chromosome X causes the presence of a SS18-SSX fusion gene. The resulting fusion protein brings together the transcriptional activating domain of SS18 and the transcriptional repressor domains of SSX. SS18-SSX is thought to underlie synovial sarcoma pathogenesis through dysregulation of gene expression.
There is some association between the SS18-SSX1 or SS18-SSX2 fusion type and both tumour morphology and five-year survival.
Read more about this topic: Synovial Sarcoma
Famous quotes containing the word biology:
“Nothing can be more incorrect than the assumption one sometimes meets with, that physics has one method, chemistry another, and biology a third.”
—Thomas Henry Huxley (1825–95)