key papersKey paper
Deregulation of the platelet-derived growth factor B-chain gene via fusion with COL1A1 in dermatofibrosarcoma protuberans
This study discovered that dermatofibrosarcoma protuberans is driven by a fusion of the collagen gene COL1A1 to the growth factor gene PDGFB, which explains its response to imatinib and gives the tumour a diagnostic marker.
Overview
Molecular characterisation of the ring chromosomes and t(17;22) translocation of dermatofibrosarcoma protuberans and giant cell fibroblastoma, identifying fusion of COL1A1 to PDGFB placing PDGFB under collagen promoter control and leading to autocrine PDGF receptor activation.
Basic scienceChanged practice
Findings
- COL1A1-PDGFB fusion identified as the driver of dermatofibrosarcoma protuberans and giant cell fibroblastoma.
What it means
COL1A1-PDGFB fusion testing confirms the diagnosis, and the fusion's dependence on PDGF receptor beta signalling is the rationale for imatinib.
Caveats
- Rare cases carry alternative PDGFD fusions.