Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma

Nat Genet. 1997 Jan;15(1):95-8. doi: 10.1038/ng0197-95.


Dermatofibrosarcoma protuberans (DP), an infiltrative skin tumour of intermediate malignancy, presents specific features such as reciprocal translocations t(17;22)(q22;q13) and supernumerary ring chromosomes derived from the t(17;22). In this report, the breakpoints from translocations and rings in DP and its juvenile form, giant cell fibroblastoma (GCF), were characterised on the genomic and RNA level. These rearrangements fuse the platelet-derived growth factor B-chain (PDGFB, c-sis proto-oncogene) and the collagen type I alpha 1 (COL1A1) genes. PDGFB has transforming activity and is a potent mitogen for a number of cell types, but its role in oncogenic processes is not fully understood. COL1A1 is a major constituent of the connective tissue matrix. Neither PDGFB nor COL1A1 have so far been implicated in any tumour translocations. These gene fusions delete exon 1 of PDGFB, and release this growth factor from its normal regulation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Breakage
  • Chromosomes, Human, Pair 17
  • Chromosomes, Human, Pair 22
  • Cloning, Molecular*
  • Collagen / genetics*
  • Collagen Type I, alpha 1 Chain
  • DNA, Neoplasm
  • Dermatofibrosarcoma / genetics*
  • Gene Library
  • Humans
  • Molecular Sequence Data
  • Platelet-Derived Growth Factor / genetics*
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins c-sis
  • Ring Chromosomes
  • Skin Neoplasms / genetics*
  • Translocation, Genetic


  • COL1A1 protein, human
  • Collagen Type I, alpha 1 Chain
  • DNA, Neoplasm
  • MAS1 protein, human
  • Platelet-Derived Growth Factor
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins
  • Proto-Oncogene Proteins c-sis
  • Collagen

Associated data

  • GENBANK/X98705
  • GENBANK/X98706
  • GENBANK/X98707
  • GENBANK/X98708
  • GENBANK/X98709
  • GENBANK/X98710