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A case of dermatofibrosarcoma protuberans of the vulva with aCOL1A1/PDGFBfusion identical to a case of giant cell fibroblastoma

✍ Scribed by R. Vanni; Gavino Faa; Tinuccia Dettori; Gian B. Melis; Jan P. Dumanski; Kevin P. O’Brien

Publisher
Springer
Year
2000
Tongue
English
Weight
373 KB
Volume
437
Category
Article
ISSN
1432-2307

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Genomic gains of COL1A1-PDFGB occur in t
Genomic gains of COL1A1-PDFGB occur in the histologic evolution of giant cell fibroblastoma into dermatofibrosarcoma protuberans
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## Abstract Giant cell fibroblastoma (GCF) is a subcutaneous mesenchymal neoplasm characterized by the chromosomal t(17;22), which results in the formation of the fusion gene __COL1A1‐PDGFB__. This same fusion gene is also seen in the supernumerary ring chromosome of dermatofibrosarcoma protuberans

Various regions within the alpha-helical
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Dermatofibrosarcoma protuberans (DFSP) and its juvenile form, giant-cell fibroblastoma (GCF), are uncommon infiltrative tumors of the dermis, which present unique cytogenetic features, such as the reciprocal translocation t(17;22) or, more commonly, supernumerary ring chromosomes containing sequence