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01 March 2005 : Original article  

Molecular diagnosis of synovial sarcoma: RT-PCR detection of SYT-SSX1/2 fusion transcripts in paraffi n-embedded tissue

Daniel Tvrdík, Ctibor Povýsil, Jana Svatosová, Pavel Dundr

Med Sci Monit 2005; 11(3): MT1-7 :: ID: 15394

Abstract

Background: Synovial sarcomas comprise up to 10 percent of malignant soft tissue tumors, and most are characterized by the chromosomal translocation t(X;18)(p11.2;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 diffi cult to distinguish from other spindle-cell neoplasms using histological and immunohistochemical profi les only.
Material/Methods: We investigated the presence of SYT-SSX1/2 chimeric RNA in tumors from 7 patients. We applied amplifi cation of the specifi c 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-fi xed, paraffi n-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 reclassifi cation of cases whose diagnosis is diffi cult by routine methods.

Keywords: Sarcoma, Synovial - diagnosis, Sarcoma, Synovial - surgery, Chromosomes, Human, Pair 18, Chromosomes, Human, X, Czech Republic, Neoplasm Proteins - genetics, Oncogene Proteins, Fusion - genetics, Paraffin Embedding, Reverse Transcriptase Polymerase Chain Reaction, Sarcoma, Synovial - surgery, Transcription, Genetic, Translocation, Genetic, Tumor Markers, Biological - genetics

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Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750