Key result
RT-PCR reveals a novel SYT-SSX1 fusion transcript variant in primary monophasic synovial sarcoma.
Why the study?
Heterogeneity within the synovial sarcoma fusion junctions is rare and requires characterization for accurate diagnosis.
Population
A primary monophasic synovial sarcoma sample
Comparison
Novel SYT-SSX1 fusion transcript vs expected fusion transcript
Design
Case report using reverse-transcription polymerase chain reaction and direct sequencing
Authors
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May require variant-aware testing to avoid missed synovial sarcoma diagnoses; leaves open the prevalence and impact of atypical fusions.
Case Report (n=1)
Identification of a novel SYT-SSX1 fusion transcript variant highlights the need to recognize distinct variants for accurate molecular diagnosis of synovial sarcoma.
Safar et al. (1998) conducted a case report in Synovial sarcoma (n=1). Reverse-transcription polymerase chain reaction (RT-PCR) was evaluated on SYT-SSX fusion transcript characterization. Reverse-transcription polymerase chain reaction of a primary monophasic synovial sarcoma revealed a novel SYT-SSX1 fusion transcript with an extra 51 bp of SSX1 and a loss of 135 bp of SYT sequence.
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