title: Complex t(5;8) involving the CSPG2 and PTK2B genes in a case of dermatofibrosarcoma protuberans without the COL1A1-PDGFB fusion.
abstract: 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.
authors.affiliation: Laboratoire de Génétique des Tumeurs Solides, Faculté de Médecine, Centre Hospitalier Universitaire de Nice, Université de Nice-Sophia Antipolis, Nice, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Bianchini
authors.forename: Georges
authors.initials: G
authors.lastname: Maire
authors.forename: Bernard
authors.initials: B
authors.lastname: Guillot
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Joujoux
authors.forename: Philippe
authors.initials: P
authors.lastname: Follana
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Simon
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Coindre
authors.forename: Florence
authors.initials: F
authors.lastname: Pedeutour
mesh_terms: D000368:Aged; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D018223:Dermatofibrosarcoma / Q000235:genetics*; D051418:Focal Adhesion Kinase 2 / Q000235:genetics*; D015321:Gene Rearrangement; D006801:Humans; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics*; D014178:Translocation, Genetic; D053675:Versicans / Q000235:genetics*
chemical_list: C120892:COLIA1-PDGFB fusion protein, human; D015514:Oncogene Proteins, Fusion; C508322:VCAN protein, human; D053675:Versicans; D051418:Focal Adhesion Kinase 2; C103547:PTK2B protein, human