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: W Q Sheng, H Hashimoto, S Okamoto, T Ishida, J M Meis-Kindblom, L G Kindblom, M Hisaoka
• Journal: The Journal of pathology (J Pathol) Vol. 194 Issue 1 Pg. 88-94 (May 2001) ISSN: 0022-3417 [Print] England
• PMID: 11329146 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2001 John Wiley & Sons, Ltd.

Chemical References

• COLIA1-PDGFB fusion protein, human
• DNA, Neoplasm
• Oncogene Proteins, Fusion

Topics

• Adult
• Base Sequence
• DNA, Neoplasm (genetics)
• Dermatofibrosarcoma (genetics)
• Female
• Fibrosarcoma (genetics, pathology)
• Humans
• Male
• Middle Aged
• Molecular Sequence Data
• Oncogene Proteins, Fusion (genetics)
• Reverse Transcriptase Polymerase Chain Reaction
• Skin Neoplasms (genetics)
• Soft Tissue Neoplasms (genetics, pathology)