Dermatofibrosarcoma protuberans: A clinical review of diagnosis and management

Dermatofibrosarcoma protuberans (DFSP) is a rare subcutaneous soft tissue malignancy associated with high local recurrence rates but low propensity for distant metastases, thus mandating aggressive loco-regional control. Diagnosis depends on histopathological evaluation, with CD34 staining needed for confirmation. There is no known sex predilection, however Black patients are disproportionately affected. When subclinical extension is suspected, magnetic resonance imaging or computed tomography may be performed, but are not routinely indicated. Patients with extensive tumor invasion or fibrosarcomatous DFSP, an aggressive variant associated with worse prognosis compared to DFSP, necessitate management by a multidisciplinary team including soft tissue sarcoma experts. We recommend Mohs micrographic surgery as the preferred treatment for DFSP given its comprehensive margin assessment, resulting in significantly lower local recurrence rates. Radiation therapy and imatinib may be considered for unresectable tumors, and we advise that COL1A1-PDGFB fusion is confirmed before starting imatinib. Possible therapeutic targets, including EGFR, PD-L1, and PRAME, have been identified by molecular analyses. Advances in organoid models and single-cell RNA sequencing have improved understanding of the tumor microenvironment. However, racial disparities in diagnosis and treatment emphasize the need for a high index of suspicion in skin of color patients to reduce misdiagnosis and delays in care.