Chromosomal rearrangements involving the SS18 gene located in the breakpoint region of chromsome 18q11.2 are common among synovial sarcoma soft tissue tumors. Several studies have indicated that the t(X;18)(p11.2;q11.2) translocation arises exclusively in synovial sarcoma (SS). Hybridization with the SS18 Dual Color, Break Apart Rearrangement Probe will identify a chromosomal rearrangement at the SS18 gene but not a specific gene-fusion partner.
SS18 gene break-apart probes are a reliable diagnostic tool to identify SYT disruption in synovial sarcomas. In a study using 134 paraffin-embedded tumors, in which SS was the favored diagnosis, the LSI SS18 (18q11.2) Dual Color, Break Apart Rearrangement Probe identified 86% of positive cases. The conclusion from this study is that the combination of the FISH and RT-PCR approach is a powerful aid to diagnosing SS, giving at least 96% sensitivity and 100% specificity. However, using the SS18 (18q11.2) Dual Color, Break Apart Rearrangement Probe in a tissue microarray assay, FISH has been favored as the method of choice because of its versatile application to tissues with varying fixation conditions. FISH allows easier detection of a true positive result and permits a direct correlation of the translocation event with the morphology on paraffin-embedded specimen.
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