Fig. 2. Genomic Catastrophes are Common in Sarcomas.
Copy number profile for fusion-driven sarcomas with chromoplexy are shown. Rearrangements are colored red, and the loci with the canonical fusion are highlighted (blue box) and enlarged on the right. (A) Chrondromyxoid fibroma (CMF) with chromoplexy. The genomic breakpoint lies in the upstream SHPRH gene, while the BCLAF1-GRM1 fusion was detected by RNA sequencing. Further complex CMFs, which also show a SHRPRH genomic breakpoint but GRM1 fusion, can be found in fig. S8. (B) Synovial sarcoma with chromoplexy. Chromoplexy generating the SS18-SSX1 pathognomonic canonical fusion is shown. (C) Phosphaturic mesenchymal tumor (PMT) with chromoplexy. Genome sequencing of PMTs revealed deletion bridges occurring across the genome at chromoplectic loci, generating the canonical FN1-FGFR1 fusion.