title: A novel fusion gene of collagen type I alpha 1 (exon 31) and platelet-derived growth factor B-chain (exon 2) in dermatofibrosarcoma protuberans.
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.
authors.affiliation: Department of Dermatology, Okayama University Medical School, Okayama, Japan. genn@cc.okayama-u.ac.jp
authors.forename: Gen
authors.initials: G
authors.lastname: Nakanishi
authors.forename: Song-Nan
authors.initials: SN
authors.lastname: Lin
authors.forename: Kenji
authors.initials: K
authors.lastname: Asagoe
authors.forename: Norihiro
authors.initials: N
authors.lastname: Suzuki
authors.forename: Akiko
authors.initials: A
authors.lastname: Matsuo
authors.forename: Ryo
authors.initials: R
authors.lastname: Tanaka
authors.forename: Eiichi
authors.initials: E
authors.lastname: Makino
authors.forename: Wataru
authors.initials: W
authors.lastname: Fujimoto
authors.forename: Keiji
authors.initials: K
authors.lastname: Iwatsuki
mesh_terms: D000328:Adult; D002886:Chromosomes, Human, Pair 17; D002892:Chromosomes, Human, Pair 22; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D018223:Dermatofibrosarcoma / Q000235:genetics* / Q000473:pathology; D005091:Exons; D005260:Female; D050939:Gene Fusion; D006801:Humans; D008297:Male; D008875:Middle Aged; 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; D014178:Translocation, Genetic
chemical_list: C000716127:COL1A1 protein, human; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D020574:Proto-Oncogene Proteins c-sis