key papersKey paper
Identification of SYT and SSX, the genes fused by the t(X;18) translocation in synovial sarcoma
This study cloned the SYT-SSX (SS18-SSX) gene fusion produced by the chromosome translocation found in essentially every synovial sarcoma, giving the tumour a defining molecular marker and the basis for later targeted and immune therapies.
Overview
Molecular cloning of the t(X;18)(p11.2;q11.2) translocation breakpoint in synovial sarcoma, identifying the SYT gene on chromosome 18 fused to the SSX genes on the X chromosome and characterising the resulting fusion transcripts.
Basic scienceChanged practice
Findings
- SYT-SSX fusion identified as the product of t(X;18) in synovial sarcoma.
What it means
SS18-SSX fusion testing confirms the diagnosis of synovial sarcoma, and the fusion's disruption of the BAF chromatin remodelling complex underlies experimental therapies such as BRD9 degraders; the tumour's MAGE-A4 and NY-ESO-1 expression enabled T-cell receptor therapy.
Caveats
- Discovery paper; clinical translation came decades later.