What is the role of cytogenetic testing in the diagnosis of dermatofibrosarcoma protuberans (DFSP)?

Updated: Mar 06, 2020
  • Author: Raman K Madan, MD; Chief Editor: William D James, MD  more...
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Although cytogenetic testing of dermatofibrosarcoma protuberans (DFSP) is not established as a standard workup, reverse transcriptase polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization (FISH) are suggested as screening tools for the presence of COL1A1-PDGFB fusion gene prior to initiation of oral imatinib molecular-targeted therapy. [25] DFSP tumors lacking the classic t(17,22) translocation mutation seem to respond poorly to imatinib. [16, 25]

DFSP-FS (fibrosarcomatous variant) is a variant of DFSP that exhibits more aggressive behavior than DFSP, with lower recurrence-free survival and greater metastatic potential. As a result of the similar clinical presentation, it is necessary to have histopathological differentiation to determine prognosis. [26]

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