Dermatofibrosarcoma Protuberans (DFSP): Diagnostics and Molecular Pathology. (PubMed, Curr Treat Options Oncol)
The pathognomonic COL1A1-PDGFB fusion, which can be detected using fluorescence in situ hybridisation (FISH) or reverse transcription polymerase chain reaction (RT-PCR), sustains autocrine PDGFRβ activation and can be used as a diagnostic marker and a target for the drug imatinib...To provide a better understanding of DFSP we discussed the molecular basis of DFSP, including the main genetic drivers and downstream signalling pathways, such as Ras-MAPK, PI3K-Akt and FGFR. Moreover, as there is no definitive staging system for DFSP, we proposed a novel one, integrating the presence of FS differentiation.