Characterization of a VariantSYThyphen;SSX1Synovial Sarcoma Fusion Transcript

摘要

Synovial sarcoma is characterized cytogenetically by an X;18 translocation t (X:18) (p11;q11) that results in the fusion of theSYTgene from chromosome 18 to either of two highly homologous genes at Xp11,SSX1orSSX2. Heterogeneity within the synovial sarcoma fusion junctions is rare. Examination of a primary monophasic synovial sarcoma for anSYT-SSXfusion transcript by reverse-transcription polymerase chain reaction revealed a smaller-than-expected product. Direct sequencing of the product disclosed a novelSYT-SSX1fusion transcript that contained an additional 51 bp of normalSSX1sequence but lost 135 bp of theSYTsequence. Detection of synovial sarcoma hybrid transcripts is useful for diagnosis and should include the recognition of distinct variants.