Gene copy number changes in dermatofibrosarcoma protuberans - a fine-resolution study using array comparative genomic hybridization

Cytogenet Genome Res. 2006;115(3-4):283-8. doi: 10.1159/000095925.


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.

MeSH terms

  • Adult
  • Chromosomes / ultrastructure
  • Collagen Type I / genetics
  • Computational Biology / methods*
  • Cytogenetic Analysis / methods
  • Dermatofibrosarcoma / genetics*
  • Female
  • Gene Dosage
  • Humans
  • Male
  • Middle Aged
  • Neoplasms / metabolism
  • Nucleic Acid Hybridization / methods*
  • Skin Neoplasms / genetics*
  • Translocation, Genetic


  • Collagen Type I
  • collagen type I, alpha 1 chain