title: Analysis of gene mutations in three cases of dermatofibrosarcoma protuberans (DFSP): ordinary DFSP, DFSP with fibrosarcomatous lesion (DFSP-FS) and lung metastasis of DFSP-FS.
abstract: BACKGROUND
  Fusion of the collagen type I alpha 1 (COL1A1) gene with the platelet-derived growth factor B-chain (PDGFB) gene has been pointed out 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.
  
  
  OBJECTIVE
  We studied the breakpoints of the COL1A1 gene using the tumor specimens from three patients with DFSP.
  
  
  METHODS
  Reverse transcriptase-polymerase chain reaction (PCR) was performed using cultured DFSP tumor cells or frozen tissue. Nucleotide sequence analysis was carried out using the PCR products to identify the breakpoints.
  
  
  RESULTS
  Cases 1, 2 and 3 were diagnosed as ordinary DFSP, DFSP with fibrosarcomatous lesion (DFSP-FS) and lung metastasis of DFSP-FS, respectively. The COL1A1-PDGFB fusion transcripts were detected from the tumor specimens. Sequence analysis revealed that the ends of exons 42, 29 and 38 in the COL1A1 gene were fused with the start of exon 2 in the PDGFB gene in case 1, 2 and 3, respectively.
  
  
  CONCLUSIONS
  This study identified a novel COL1A1 breakpoint, namely, exon 42 of the COL1A1 gene. Detection of the aberrant fusion transcript seems to be useful at differential diagnosis both in primary and metastatic lesions.
authors.affiliation: Department of Dermatology, Faculty of Medicine, University of Tokyo, Hongo 7-3-1, Bunkyo-ku, Tokyo 113-8655, Japan. saeki-der@h.u-tokyo.ac.jp
authors.forename: Hidehisa
authors.initials: H
authors.lastname: Saeki
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Hoashi
authors.forename: Yayoi
authors.initials: Y
authors.lastname: Tada
authors.forename: Ryuichi
authors.initials: R
authors.lastname: Ashida
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Kuwano
authors.forename: Andre
authors.initials: A
authors.lastname: Le Pavoux
authors.forename: Yuichiro
authors.initials: Y
authors.lastname: Tsunemi
authors.forename: Junichiro
authors.initials: J
authors.lastname: Shikada
authors.forename: Hideshi
authors.initials: H
authors.lastname: Torii
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Kawabata
authors.forename: Kanako
authors.initials: K
authors.lastname: Kikuchi
authors.forename: Yasuhiko
authors.initials: Y
authors.lastname: Tamada
authors.forename: Yoshinari
authors.initials: Y
authors.lastname: Matsumoto
authors.forename: Kunihiko
authors.initials: K
authors.lastname: Tamaki
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D018223:Dermatofibrosarcoma / Q000235:genetics* / Q000556:secondary; D005091:Exons; D005260:Female; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics* / Q000556:secondary*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020574:Proto-Oncogene Proteins c-sis / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D014407:Tumor Cells, Cultured
chemical_list: C000716127:COL1A1 protein, human; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D020574:Proto-Oncogene Proteins c-sis