title: Expression of COL1A1-PDGFB fusion transcripts in superficial adult fibrosarcoma suggests a close relationship to dermatofibrosarcoma protuberans.
abstract: The diagnosis of fibrosarcoma has become relatively rare since the recognition and definition of certain adult spindle-cell sarcomas, such as monophasic synovial sarcoma, malignant peripheral nerve sheath tumour (MPNST), and malignant fibrous histiocytoma (MFH). Although most adult fibrosarcomas occur within intra- or inter-muscular fibrous tissues, some originate from superficial soft tissues (superficially located adult fibrosarcomas) (SAFs). Recently, the COL1A1-PDGFB chimeric gene resulting from a reciprocal translocation, t(17;22), and/or a supernumerary ring chromosome, r(17;22), has been identified, not only in conventional dermatofibrosarcoma protuberans (DFSP) but also in areas of DFSP with progression to fibrosarcoma (so-called fibrosarcomatous transformation) (FS-DFSP). Since many SAFs are clinically and histologically similar to DFSP or FS-DFSP, this study postulated that the two groups may be interrelated histogenetically. To test this hypothesis, a reverse transcription-polymerase chain reaction (RT-PCR) assay was conducted to determine whether COL1A1-PDGFB fusion transcripts could be detected in six cases of SAF, using archival formalin-fixed, paraffin-embedded tissues. COL1A1-PDGFB fusion transcripts were detected in four of six SAFs, whereas no such fusion transcripts could be amplified in five deep-seated fibrosarcomas, eight congenital/infantile fibrosarcomas or 28 other spindle-cell tumours and tumour-like lesions. These results show that at least some cases of SAF are genetically similar to DFSP and FS-DFSP, suggesting that some SAFs originate from DFSP or involve similar pathogenetic mechanisms.
authors.affiliation: Department of Pathology and Oncology, School of Medicine, University of Occupational and Environmental Health (UOEH), 1-1 Iseigaoka, Yahatanishi-ku, Kitakyushu 807-8555, Japan.
authors.forename: W Q
authors.initials: WQ
authors.lastname: Sheng
authors.forename: H
authors.initials: H
authors.lastname: Hashimoto
authors.forename: S
authors.initials: S
authors.lastname: Okamoto
authors.forename: T
authors.initials: T
authors.lastname: Ishida
authors.forename: J M
authors.initials: JM
authors.lastname: Meis-Kindblom
authors.forename: L G
authors.initials: LG
authors.lastname: Kindblom
authors.forename: M
authors.initials: M
authors.lastname: Hisaoka
mesh_terms: D000328:Adult; D001483:Base Sequence; D004273:DNA, Neoplasm / Q000235:genetics; D018223:Dermatofibrosarcoma / Q000235:genetics; D005260:Female; D005354:Fibrosarcoma / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012878:Skin Neoplasms / Q000235:genetics; D012983:Soft Tissue Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: C120892:COLIA1-PDGFB fusion protein, human; D004273:DNA, Neoplasm; D015514:Oncogene Proteins, Fusion