title: Molecular diagnosis of dermatofibrosarcoma protuberans: a comparison between reverse transcriptase-polymerase chain reaction and fluorescence in situ hybridization methodologies.
abstract: Dermatofibrosarcoma protuberans (DFSP) is characterized by the presence of the t(17;22)(q22;q13) that leads to the fusion of the COL1A1 and PDGFB genes. This translocation can be detected by multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) or fluorescence in situ hybridization (FISH) techniques. We have evaluated the usefulness of a dual color dual fusion FISH probe strategy for COL1A1/PDGFB detection in a series of 103 archival DFSPs and compared the obtained results with RT-PCR analyses. FISH and RT-PCR were carried out on paraffin embedded tissue samples. Regarding the RT-PCR approach, all COL1A1 exons and exon 2 of PDGFB were evaluated. Sensitivity, specificity, positive and negative predictive values were assessed considering the histological diagnosis as the gold standard. We also analyzed the relationship between the genetic findings and the clinicopathological variables of the tumors. The COL1A1/PDGFB translocation was detected in 93% of DFSP. Both techniques showed a similar specificity (100%), but FISH was more sensitive than RT-PCR (90% vs. 72%). Regarding, clinicopathological features, a higher percentage of positive cells detected by FISH was significantly associated with the fibrosarcomatous DFSP variant (P < 0.001). Interestingly, all CD34 negative DFSP (n = 5) were positive for COL1A1/PDGFB translocation by both techniques. In conclusion, the majority of DFSP harbor the COL1A1/PDGFB translocation and FISH technique should be recommended as a routine diagnostic tool, especially in cases showing unusual histopathological subtypes and/or immunohistochemical features.
authors.affiliation: Laboratori de Citogenètica Molecular, Servei de Patologia, GRETNHE, Programa de Recerca en Càncer, IMIM-Institut de Recerca del Hospital del Mar, Parc de Salut Mar, Barcelona, Spain.
authors.forename: Rocío
authors.initials: R
authors.lastname: Salgado
authors.forename: Beatriz
authors.initials: B
authors.lastname: Llombart
authors.forename: Ramon
authors.initials: R
authors.lastname: M Pujol
authors.forename: Antonio
authors.initials: A
authors.lastname: Fernández-Serra
authors.forename: Onofre
authors.initials: O
authors.lastname: Sanmartín
authors.forename: Agustí
authors.initials: A
authors.lastname: Toll
authors.forename: Luis
authors.initials: L
authors.lastname: Rubio
authors.forename: Sonia
authors.initials: S
authors.lastname: Segura
authors.forename: Carlos
authors.initials: C
authors.lastname: Barranco
authors.forename: Carlos
authors.initials: C
authors.lastname: Serra-Guillén
authors.forename: Mireia
authors.initials: M
authors.lastname: Yébenes
authors.forename: Marta
authors.initials: M
authors.lastname: Salido
authors.forename: Víctor
authors.initials: V
authors.lastname: Traves
authors.forename: Carlos
authors.initials: C
authors.lastname: Monteagudo
authors.forename: Empar
authors.initials: E
authors.lastname: Sáez
authors.forename: Teresa
authors.initials: T
authors.lastname: Hernández
authors.forename: Enrique
authors.initials: E
authors.lastname: de Álava
authors.forename: Antonio
authors.initials: A
authors.lastname: Llombart-Bosch
authors.forename: Francesc
authors.initials: F
authors.lastname: Solé
authors.forename: Carlos
authors.initials: C
authors.lastname: Guillén
authors.forename: Blanca
authors.initials: B
authors.lastname: Espinet
authors.forename: Jose A
authors.initials: JA
authors.lastname: López-Guerrero
mesh_terms: D000328:Adult; D002648:Child; D024042:Collagen Type I / Q000235:genetics; D000090602:Collagen Type I, alpha 1 Chain; D018223:Dermatofibrosarcoma / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008297:Male; D020574:Proto-Oncogene Proteins c-sis / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods*
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D020574:Proto-Oncogene Proteins c-sis