title: Dermatofibrosarcoma protuberans with COL1A1 (exon 18) -PDGFB (exon 2) fusion transcript.
abstract: BACKGROUND
  Fusion of the collagen type I alpha 1 (COL1A1) gene with the platelet-derived growth factor B-chain (PDGFB) gene has been described in dermatofibrosarcoma protuberans (DFSP). Various exons of the COL1A1 gene have been shown to be involved in the fusion with exon 2 of the PDGFB gene. Objectives We examined the breakpoint of the COL1A1 gene using the tumour specimen from the patient with DFSP.
  
  
  METHODS
  Reverse transcriptase-polymerase chain reaction (PCR) was performed using cultured DFSP tumour cells. Nucleotide sequence analysis was carried out using the PCR product to identify the breakpoint.
  
  
  RESULTS
  The COL1A1-PDGFB fusion transcript was detected from the tumour specimen. Sequence analysis revealed that exon 18 of the COL1A1 gene was fused with exon 2 of the PDGFB gene.
  
  
  CONCLUSIONS
  This study identified a novel COL1A1 breakpoint, namely, exon 18 of the COL1A1 gene.
authors.affiliation: Department of Dermatology, Faculty of Medicine, University of Tokyo, Hongo 7-3-1, Bunkyo-ku, Tokyo 113-8655, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Saeki
authors.forename: H
authors.initials: H
authors.lastname: Ohmatsu
authors.forename: T
authors.initials: T
authors.lastname: Hoashi
authors.forename: N
authors.initials: N
authors.lastname: Asano
authors.forename: T
authors.initials: T
authors.lastname: Idezuki
authors.forename: Y
authors.initials: Y
authors.lastname: Kawabata
authors.forename: A
authors.initials: A
authors.lastname: Asahina
authors.forename: K
authors.initials: K
authors.lastname: Kikuchi
authors.forename: K
authors.initials: K
authors.lastname: Tamaki
mesh_terms: D000328:Adult; D001483:Base Sequence; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D018223:Dermatofibrosarcoma / Q000235:genetics*; D005091:Exons; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D015514:Oncogene Proteins, Fusion / Q000032:analysis*; D020574:Proto-Oncogene Proteins c-sis / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D012878:Skin Neoplasms / Q000235:genetics*
chemical_list: C000716127:COL1A1 protein, human; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D015514:Oncogene Proteins, Fusion; D020574:Proto-Oncogene Proteins c-sis