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Published on: April 5, 2018
Molecular diagnosis of synovial sarcoma: RT-PCR detection of SYT-SSX1/2 fusion transcripts in paraffin-embedded
Daniel Tvrdík1, Ctibor Povýsil, Jana Svatosová
1Institute of Pathology, General Faculty Hospital, Studnickova 2, Prague 2, 128 00, Czech Republic. Daniel.Tvrdik@vfn.cz
Background:
Synovial sarcomas comprise up to 10 percent of malignant soft tissue tumors, and most are characterized by the chromosomal translocation t(X;18) (pl 1.2;q11.2), which results in the expression of SYT-SSX fusion transcripts. These tumors include two major histological subtypes, biphasic and monophasic. Diagnosing biphasic synovial sarcomas does not usually pose a problem, whereas the monophasic spindle-cell form can be difficult to distinguish from other spindle-cell neoplasms using histological and immunohistochemical profiles only.
Material/Methods:
We investigated the presence of SYT-SSX1/2 chimeric RNA in tumors from 7 patients. We applied amplification of the specific fusion transcripts by reverse transcriptase-polymerase chain reaction (RT-PCR) in fresh, frozen tumors. We also developed a method useful for RT-PCR SYT-SSX fusion transcript detection in formalin-fixed, paraffin-embedded tissue.
Results:
We found that both histological subtypes of synovial sarcoma were SYT-SSX positive. Moreover, we observed a correlation between histological subtype and type of SYT-SSX fusion transcript. Biphasic synovial sarcoma expressed the SYT-SSX1 fusion transcript, whereas the monophasic subtype expressed the SYT-SSX2 fusion transcript.
Conclusions:
The detection of SYT-SSX1/2 fusion transcripts by RT-PCR is a valuable diagnostic marker of synovial sarcoma which can be used for the reclassification of cases whose diagnosis is difficult by routine methods.
