Expression of COL1A1-PDGFB fusion transcripts in superficial adult fibrosarcoma suggests a close relationship to dermatofibrosarcoma protuberans

The Journal of Pathology
W Q ShengM Hisaoka

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 detect...Continue Reading

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