What is the role of genetic studies in the diagnosis of pleural synovial sarcoma?

Updated: Dec 25, 2019
  • Author: Joseph F Tomashefski, Jr, MD; more...
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Answer

The molecular hallmark of synovial sarcoma is the t(X; 18)(p11.2; q11.2) translocation, which is found in more than 90% of synovial sarcomas, regardless of site of origin.

Pathology of nonmesothelial cancers of the pleura. Pathology of nonmesothelial cancers of the pleura. This image shows a positive finding with the SYT breakapart probe. In an intact (normal) situation, the green and red colors would be juxtaposed, thereby forming yellow. A few intact loci are present, but many loci demonstrate the loss of yellow and the spatial separation of the green and red fluorophores.

This translocation results in the fusion of the SYT gene on chromosome 18 to either the SSX1 or SSX2 gene on chromosome X. The presence of the translocation and/or the fusion transcript is considered to be specific for synovial sarcoma, regardless of the histologic variant. [82]

Pleural synovial sarcoma results in positive fluorescence in situ hybridization (FISH) or reverse transcriptase polymerase chain reaction (RT-PCR), in contrast to mesotheliomas which have a negative SYT-SSX status. [63]


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