Complex t(5;8) involving the CSPG2 and PTK2B genes in a case of dermatofibrosarcoma protuberans without the COL1A1-PDGFB fusion
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Dermatofibrosarcoma protuberans (DFSP) is a rare, dermal neoplasm of intermediate malignancy. It is made of spindle-shaped tumor cells in a storiform pattern positive for CD34. Cytogenetically, DFSP cells are characterized by either supernumerary ring chromosomes composed of sequences derived from chromosomes 17 and 22 or more rarely of translocations t(17;22). These chromosomal rearrangements lead to the formation of a specific chimeric gene fusing COL1A1 to PDGFB. So far, the COL1A1-PDGFB fusion gene remains the sole fusion gene identified in DFSP. However, some observations suggest that genes, other than COL1A1 and PDGFB, might be involved in some DFSP cases. We report in this paper a DFSP case presenting as a unique chromosomal abnormality a complex translocation between chromosomes 5 and 8. This is the first report of a DFSP case where the lack of chromosomes 17 and 22 rearrangement and the absence of COL1A1-PDGFB fusion gene have been demonstrated. Using fluorescence in situ hybridization analysis, we showed that the CSPG2 gene at 5q14.3 and the PTK2B gene at 8p21.2 were disrupted by this rearrangement. Although rare, the existence of cases of DFSP negative for the COL1A1-PDGFB fusion has to be taken in consideration when performing molecular diagnosis for a tumor suspected to be a DFSP.
KeywordsDermatofibrosarcoma protuberans Translocation t(5;8) CSPG2 PTK2B Cytogenetics) FISH
We thank M. Rocchi (University of Bari, Italy), M-J Pébusque, M. Chaffanet, and D. Birnbaum (Institut Paoli Calmettes, Marseille, France) for kindly providing some of the BAC and YAC clones used in this study. This work was supported by the Comité des Alpes-Maritimes de la Ligue Nationale contre le Cancer, the Association pour la Recherche sur le Cancer, the Institut National du Cancer, and the Fondation pour la Recherche Médicale (master grant to P. Follana). The experiments described in this study comply with the current laws of France.
Conflict of interest statement
We declare that we have no conflict of interest.
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