title: Gene copy number changes in dermatofibrosarcoma protuberans - a fine-resolution study using array comparative genomic hybridization.
abstract: Dermatofibrosarcoma protuberans (DFSP) is a rare, slow-growing, low-grade dermal tumor. Cytogenetic and FISH studies have revealed that the chromosomal rearrangements characteristic of DFSP tumors involve both translocations and the formation of a supernumerary ring derived from chromosomes 17 and 22. The t(17;22) (q22;q13.1) translocation generates a gene fusion between COL1A1 and PDGFB, which serves as a diagnostic marker of DFSP. In the present study we performed array-CGH (aCGH) analysis on ten DFSP tumors. The COL1A1 region at 17q was gained in 71% (5/7) of the samples and the PDGFB region at 22q was gained in 43% (3/7) of the individual samples. In addition to the 17q and 22q gains, altogether 17 minimal common regions of gain and one region of loss were detected.
authors.affiliation: Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
authors.forename: S
authors.initials: S
authors.lastname: Kaur
authors.forename: H
authors.initials: H
authors.lastname: Vauhkonen
authors.forename: T
authors.initials: T
authors.lastname: Böhling
authors.forename: F
authors.initials: F
authors.lastname: Mertens
authors.forename: N
authors.initials: N
authors.lastname: Mandahl
authors.forename: S
authors.initials: S
authors.lastname: Knuutila
mesh_terms: D000328:Adult; D002875:Chromosomes / Q000648:ultrastructure; D024042:Collagen Type I / Q000235:genetics; D000090602:Collagen Type I, alpha 1 Chain; D019295:Computational Biology / Q000379:methods*; D020732:Cytogenetic Analysis / Q000379:methods; D018223:Dermatofibrosarcoma / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D006801:Humans; D008297:Male; D008875:Middle Aged; D009369:Neoplasms / Q000378:metabolism; D009693:Nucleic Acid Hybridization / Q000379:methods*; D012878:Skin Neoplasms / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain