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Article

Genetic Aberrations in Imatinib-Resistant Dermatofibrosarcoma Protuberans Revealed by Whole Genome Sequencing

29 Jul 2013

Abstract excerpt

Dermatofibrosarcoma protuberans (DFSP) is a very rare soft tissue sarcoma. DFSP often reveals a specific chromosome translocation, t(17;22)(q22;q13), which results in the fusion of collagen 1 alpha 1 (COL1A1) gene and platelet-derived growth factor-B (PDGFB) gene. The COL1A1-PDGFB fusion protein activates the PDGFB receptor and resultant constitutive activation of PDGFR receptor is essential in the pathogenesis...

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PMID: 23922791
DOI: 10.1371/journal.pone.0069752

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