{"entity":{"id":"paper-simon-col1a1-pdgfb-dfsp-nat-genet-1997","kind":"paper","name":"Deregulation of the platelet-derived growth factor B-chain gene via fusion with COL1A1 in dermatofibrosarcoma protuberans","aka":[],"tldr":"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.","summary":"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.","asOf":"2026-09-17","links":[{"label":"Nat Genet 1997","url":"https://doi.org/10.1038/ng0197-95"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/8988177/"}],"tags":[],"related":[],"cancers":["dermatofibrosarcoma-protuberans"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":["nature-genetics"],"dependsOn":[],"notes":[],"journal":"Nature Genetics","year":1997,"doi":"10.1038/ng0197-95","pmid":"8988177","authors":"Simon MP, Pedeutour F, Sirvent N, et al.","paperType":"basic","findings":["COL1A1-PDGFB fusion identified as the driver of dermatofibrosarcoma protuberans and giant cell fibroblastoma."],"whatItMeans":"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."],"changedPractice":true},"route":"/key-papers/paper-simon-col1a1-pdgfb-dfsp-nat-genet-1997/","neighbours":{"cancer":[{"id":"dermatofibrosarcoma-protuberans","kind":"cancer","name":"Dermatofibrosarcoma protuberans","route":"/cancers/dermatofibrosarcoma-protuberans/"}],"journal":[{"id":"nature-genetics","kind":"journal","name":"Nature Genetics","route":"/journals/nature-genetics/"}]}}