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GENATLAS PHENOTYPE
last update : 04-01-2012
Symbol DFSP
Location 22q13
Name dermatofibrosarcoma protuberans (Darier-Ferrand-tumor)
Other name(s) giant cell fibroblastoma
Corresponding gene PDGFB , PDGFB/COL1A1(fusion gene)
Main clinical features
  • uncommon, locally aggressive, but rarely metastasizing tumor of the deep dermis and subcutaneous tissue
  • typically presents during early or middle adult life and is most frequently located on the trunk and proximal extremities
    • Genetic determination not applicable
    Function/system disorder dermatology
    Type malignancy
    Gene product
    Name chimeric protein 5' - COL1A1 - PDGFB - 3'
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      translocation   acquired t(17;22)(q22;q13) with production of a chimeric protein between the alpha-helical domain of COL1A1 and the second exon of PDGFB
      ring   the majority of DFSP are associated with an extra ring chromosome containing sequences from chromosomes 17 and 22
    Remark(s)