A novel fusion gene of collagen type I alpha 1 (exon 31) and platelet-derived growth factor B-chain (exon 2) in dermatofibrosarcoma protuberans

Eur J Dermatol. 2007 May-Jun;17(3):217-9. doi: 10.1684/ejd.2007.0151. Epub 2007 May 4.

Abstract

Dermatofibrosarcoma protuberans (DFSP) is an uncommon, slow growing, sarcoma of dermal and subcutaneous tissue with an infiltrative growth pattern. Although DFSP has a high rate of local recurrence, it rarely metastasizes. DFSP is characterized by a chromosomal translocation involving the collagen type I a 1 (COL1A1) gene on chromosome 17 and the platelet-derived growth factor B-chain (PDGFB) gene on chromosome 22. Various exons of the COL1A1 gene have been reported to be involved in the fusion with exon 2 of the PDGFB gene. In this study, we examined the COL1A1-PDGFB fusion transcripts using frozen specimens from three patients with DFSP. The molecular biology study with reverse transcriptase polymerase chain reaction (RT- PCR) and sequencing showed that the ends of exons 25, 31, and 45 in the COL1A1 gene were fused with PDGFB. The exon 2 of the PDGFB gene fused with exon 31 of the COL1A1 gene was a novel fusion gene.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 17
  • Chromosomes, Human, Pair 22
  • Collagen Type I / genetics*
  • Collagen Type I, alpha 1 Chain
  • Dermatofibrosarcoma / genetics*
  • Dermatofibrosarcoma / pathology
  • Exons
  • Female
  • Gene Fusion*
  • Humans
  • Male
  • Middle Aged
  • Proto-Oncogene Proteins c-sis / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology
  • Translocation, Genetic

Substances

  • COL1A1 protein, human
  • Collagen Type I
  • Collagen Type I, alpha 1 Chain
  • Proto-Oncogene Proteins c-sis