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Molecular diagnosis of dermatofibrosarcoma protuberans: A comparison between reverse transcriptase‐polymerase chain reaction and fluorescence in situ hybridization methodologies
Author(s) -
Salgado Rocío,
Llombart Beatriz,
M. Pujol Ramon,
FernándezSerra Antonio,
Sanmartín Onofre,
Toll Agustí,
Rubio Luis,
Segura Sonia,
Barranco Carlos,
SerraGuillén Carlos,
Yébenes Mireia,
Salido Marta,
Traves Víctor,
Monteagudo Carlos,
Sáez Empar,
Hernández Teresa,
de Álava Enrique,
LlombartBosch Antonio,
Solé Francesc,
Guillén Carlos,
Espinet Blanca,
LópezGuerrero Jose A.
Publication year - 2011
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.20874
Subject(s) - pdgfb , dermatofibrosarcoma protuberans , fluorescence in situ hybridization , polymerase chain reaction , in situ hybridization , biology , chromosomal translocation , multiplex polymerase chain reaction , multiplex , fusion gene , microbiology and biotechnology , reverse transcriptase , immunohistochemistry , reverse transcription polymerase chain reaction , cd34 , pathology , gene , medicine , messenger rna , genetics , chromosome , receptor , immunology , platelet derived growth factor receptor , stem cell , growth factor
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. © 2011 Wiley‐Liss,Inc.