No Correlation between the Molecular Subtype of COL1A1–PDGFB Fusion Gene and the Clinico-Histopathological Features of Dermatofibrosarcoma Protuberans

Abstract

Abbreviations: COL1A1, collagen type I-a 1; DFSP, dermatofibrosarcoma protuberans; PDGFB, plateletderived growth factor-B chain 904

Identification of t(17;22)(q22;q13) (COL1A1/PDGFB) in dermatofibrosarcoma protuberans by fluorescence in situ hybridization in paraffin-embedded tissue microarrays

“…This finding has been observed in previous studies [17,19,21,26]. Abbott el al [19] studied 10 DFSPs with fibrosarcomatous transformation (DFSP-FS) and compared FS areas with DFSP areas.…”

“…The detection of the fusion gene COL1A1/PDGFB by RT-PCR is difficult due to the presence of multiple breakpoints of the gene COL1A1 and the problem of extracting RNA from paraffin-embedded tissue. In a recent study, from a series of 172 DFSP (137 already published), no association between the COL1A1 breakpoint position and clinicohistologic parameters was found [26]. The authors concluded that the simpler FISH analysis might appear to be a more appropriate method for routine detection of COL1A1/ PDGFB rearrangement in DFSP.…”

Dermatofibrosarcoma protuberans: A clinicopathological, immunohistochemical, genetic ( COL1A1-PDGFB ), and therapeutic study of low-grade versus high-grade (fibrosarcomatous) tumors

“…We characterized 20 distinct breakpoints in COL1A1, with a tendency for the breakpoint to occur in exons located in the second half of COl1A1. Nevertheless, as reported by our group and others, [19][20][21]37,38 there is no association between the presence of different breakpoints and the histologic variants of DFSP or their clinical characteristics.…”

Molecular diagnosis of dermatofibrosarcoma protuberans: A comparison between reverse transcriptase‐polymerase chain reaction and fluorescence in situ hybridization methodologies

“…RT-PCR has been the procedure most extensively reported. Using this technique, a constant involvement of exon 2 of PDGFB has been detected, whereas COL1A1 breakpoints occur in a wide variety of positions within the gene (Giacchero et al, 2010). In our previous experience (Llombart et al, accepted for publication), we observed that 76% is detected using RT-PCR in paraffin embedded tissue samples.…”

“…Exon 46 was the most frequently involved, followed by exons 25, 26, and 43. In a recent review of 172 cases compiled from different studies, Giacchero et al (2010) classified the implicated exons in four groups due to the high variability of the exons involved, but did not find any correlation between the molecular subtype of COL1A1/ PDGFB fusion gene and the clinicohistopathological features of the evaluated DFSP. We have also classified the exons into two different groups and reached the same conclusion.…”