ORIGINAL ARTICLE

Transformed dermatofibrosarcoma protuberans: real time polymerase chain reaction detection of COL1A1–PDGFB fusion transcripts in sarcomatous areas

Zoltan Szollosi¹, Beata Scholtz², Kristof Egervari¹, Zoltan Nemes¹

¹ Department of Pathology, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
² Clinical Genomics Center, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary

Correspondence to:
Dr Z Szollosi
Department of Pathology, Medical and Health Science Center, University of Debrecen, Nagyerdei krt 98, H-4012 Debrecen, Hungary; szollosi{at}jaguar.dote.hu

Background: Recent cytogenetic studies have shown that reciprocal translocation t (17;22)(q22;q13) and a supernumerary ring chromosome derived from the translocation r(17;22) are highly characteristic of dermatofibrosarcoma protuberans (DFSP). The chromosomal rearrangements fuse the collagen type I1 (COL1A1) and the platelet-derived growth factor B-chain (PDGFB) genes. The COL1A1–PDGFB fusion transcript has been shown not only in conventional DFSP but also in a small series of DFSP with fibrosarcomatons areas (DFSP-FS) using reverse transcriptase-based conventional polymerase chain reaction. Nothing is known about the status of the COL1A1–PDGFB chimaeric gene in the pleomorphic areas of DFSP-PleoSarc (formerly known as DFSP-malignant fibrous sarcoma).

Aims: To show the COL1A1–PDGFB fusion transcript in transformed malignant fibrous histiocytoma.

Method: A real-time polymerase chain reaction assay for the COL1A1–PDGFB fusion transcript in a series of DFSP containing sarcoma was conducted to determine whether the chimaeric gene could be identified in both components of DFSP-FS and DFSP-PleoSarc. Eight cases were analysed.

Results: In seven cases, transcriptable RNA was detected, and in these cases, translocations were found between COL1A1 and PDGFB genes involving exons 27, 32, 34, 40 and 47 of the COL1A1 gene and exon 2 of the PDGFB gene.

Conclusions: From a diagnostic aspect, this assay can be particularly useful in confirming the diagnosis of sarcomatous DFSP. On the other hand, the COL1A1–PDGFB fusion gene was shown in three cases of DFSP containing pleomorphic sarcoma, which supports the theory of the common histogenesis.

Abbreviations: COL1A1, collagen type I1; DFSP, dermatofibrosarcoma protuberans; DFSP-FS, dermatofibrosarcoma-fibrosarcomatons; DFSP-PleoSarc, dermatofibrosarcoma protuberans-PleoSarc; PDGFB, platelet-derived growth factor B-chain; RT-PCR, reverse transcription-polymerase chain reaction

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