COL1A1-PDGFB gene fusion demonstrates a common histogenetic origin for dermatofibrosarcoma protuberans and its granular cell variant.
Granular cell variant of dermatofibrosarcoma protuberans is very rare with only one report of two cases. We report a new case in which we demonstrated the presence of the dermatofibrosarcoma protuberans-specific COL1A1-PDGFB fusion from paraffin-embedded tissue. This case analysis demonstrated the utility of molecular genetics as a powerful tool for the diagnosis of atypical forms of dermatofibrosarcoma protuberans.
Maire
Georges
G
UF Recherche clinique 0952 and Laboratoire de Cytogénétique, Université de Bordeaux II and Institut Bergonié, France.
Pédeutour
Florence
F
Coindre
Jean-Michel
JM
D000328:Adult; D014408:Biomarkers, Tumor / Q000032:analysis*; D018223:Dermatofibrosarcoma / Q000737:chemistry* / Q000473:pathology; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D015514:Oncogene Proteins, Fusion / Q000032:analysis*; D012878:Skin Neoplasms / Q000737:chemistry* / Q000473:pathology
D014408:Biomarkers, Tumor; C120892:COLIA1-PDGFB fusion protein, human; D015514:Oncogene Proteins, Fusion