Key result
Direct sequencing reveals a novel SYT/SSX1 fusion transcript in pediatric high-grade spindle cell sarcoma.
Case Report (n=1)
Identifies a novel SYT-SSX1 fusion gene variant in synovial sarcoma, highlighting the importance of PCR for diagnosing uncommon variants.
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Alerts pathologists to rare SS junction heterogeneity; extends known variants but leaves open clinical impact.
Synovial sarcoma (SS) is a rare soft-tissue tumor that affects children and young adults. It is characterized by chromosomal translocation t(X;18)(p11.2;q11.2), which results in the fusion of the gene SYT on chromosome 18 with SSX genes on chromosome X. Heterogeneity within SS fusion junctions is rare. We report a case of a 9-year-old boy with a high-grade spindle cell sarcoma. Reverse transcriptase-polymerase chain reaction revealed a characteristic translocation of SSs. However, this sarcoma showed a longer-than-expected PCR product after gel electrophoresis. Direct sequencing of the product disclosed a novel SYT/SSX1 fusion transcript. Detection of fusion transcripts is useful for diagnostics of SS. In each case, when considering this diagnosis on the morphologic grounds an attempt to analyze the translocation using PCR should be made, including the recognition of its uncommon variants.
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Krskov et al. (2007) conducted a case report in Spindle cell synovial sarcoma (n=1). Reverse transcriptase-polymerase chain reaction (RT-PCR) and direct sequencing was evaluated on Detection of a novel SYT/SSX1 fusion transcript. Direct sequencing of a longer-than-expected PCR product in a 9-year-old boy with high-grade spindle cell sarcoma revealed a novel SYT/SSX1 fusion transcript.
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