title: Atrophic dermatofibrosarcoma protuberans: report of a case demonstrated by detecting COL1A1-PDGFB rearrangement.
abstract: Dermatofibrosarcoma protuberans is a locally aggressive mesenchymal neoplasm. It usually presents as an indurated plaque that protrudes above the surface of the skin. Some patients have clinically persistent plaques that might be atrophic. The atrophic variant of dermatofibrosarcoma protuberans may be confused with some common skin diseases with atrophic appearance. We reported a 40-year-old woman who had a 10-year history of an atrophic dermatofibrosarcoma protuberans. Molecular analysis showed a fusion between COL1A1 exon 31 to exon 2 of PDGFB. The lesion was totally excised, with negative margins of the resection demonstrated by CD34 immunostaining. To our knowledge, this is the second case of atrophic dermatofibrosarcoma protuberans confirmed by detection of COL1A1-PDGFB fusion gene. This appears to be the first report of a fusion between COL1A1 exon 31 to exon 2 of PDGFB in atrophic dermatofibrosarcoma protuberans.
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authors.affiliation: Department of Dermatology, The First Affiliated Hospital, College of Medicine, Zhejiang University, No 79, Qingchun Road, Hangzhou 310003, People's Republic of China.
authors.forename: Jianjun
authors.initials: J
authors.lastname: Qiao
authors.forename: Kayuri U
authors.initials: KU
authors.lastname: Patel
authors.forename: Dolores
authors.initials: D
authors.lastname: López-Terrada
authors.forename: Hong
authors.initials: H
authors.lastname: Fang
mesh_terms: D000328:Adult; D018952:Antigens, CD34 / Q000032:analysis; D001284:Atrophy; D014408:Biomarkers, Tumor / Q000032:analysis; D018223:Dermatofibrosarcoma / Q000737:chemistry / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D005091:Exons; D005260:Female; D015321:Gene Rearrangement; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D060885:Multiplex Polymerase Chain Reaction; D050596:Oncogene Fusion; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D010641:Phenotype; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA / Q000379:methods; D012878:Skin Neoplasms / Q000737:chemistry / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D016896:Treatment Outcome
chemical_list: D018952:Antigens, CD34; D014408:Biomarkers, Tumor; C120892:COLIA1-PDGFB fusion protein, human; D015514:Oncogene Proteins, Fusion