ArticleWorld journal of clinical cases2025
Beyond COL1A1::PDGFB: Rare fusions and their clinical implications in dermatofibrosarcoma protuberans.
Article in World journal of clinical cases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Dermatofibrosarcoma protuberans (DFSP) is a rare cutaneous intermediate-grade soft tissue tumor characterized by COL1A1::PDGFB fusion in most cases. This fusion drives tumorigenesis and forms the basis for imatinib treatment, which acts by blocking platelet-derived growth factor receptor-beta kinase activity. Apart from this canonical fusion, there is an expanding spectrum of rare fusions, including COL6A3::PDGFD, EMILIN::PDGFD, TNC::PDGFD,
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