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Expression of COL1A1–PDGFB fusion transcripts in superficial adult fibrosarcoma suggests a close relationship to dermatofibrosarcoma protuberans
Author(s) -
Sheng WeiQi,
Hashimoto Hiroshi,
Okamoto Sumika,
Ishida Tsuyoshi,
MeisKindblom Jeanne M.,
Kindblom LarsGunnar,
Hisaoka Masanori
Publication year - 2001
Publication title -
the journal of pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.964
H-Index - 184
eISSN - 1096-9896
pISSN - 0022-3417
DOI - 10.1002/path.839
Subject(s) - dermatofibrosarcoma protuberans , pdgfb , fibrosarcoma , synovial sarcoma , pathology , sarcoma , dermatofibrosarcoma , biology , malignant peripheral nerve sheath tumor , fusion gene , ht1080 , solitary fibrous tumor , undifferentiated pleomorphic sarcoma , immunohistochemistry , soft tissue sarcoma , medicine , cd34 , gene , platelet derived growth factor receptor , microbiology and biotechnology , receptor , biochemistry , stem cell , growth factor
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. Copyright © 2001 John Wiley & Sons, Ltd.