Cutaneous sarcoma is a group of malignant mesenchymal tumors primarily involving the dermis, and it is characterized by extreme clinicopathological heterogeneity. Although its occurrence rate is rare, dermatofibrosarcoma protuberans (DFSP) is one of the most common types of dermal sarcoma. DFSP grows slowly and tends to relapse locally after inadequate resection. There are various histological variants of DFSP tumors and it often mimics benign lesions such as dermatofibroma and scar, which make accurate diagnosis difficult and delayed, and some cases progress to the stage where the tumor is unresectable. Recent advancements in cancer genetics and molecular biology methods have elucidated the COL1A1-PDGFB fusion gene, some novel fusion gene variants and pathways related to DFSP pathogenesis that have resulted in the evolution of cutaneous sarcoma diagnosis and treatment. For example, some clinical studies have confirmed the efficacy of imatinib methylate, an αPDGFR-targeted therapy for unresectable or metastatic DFSP. The present review summarizes recent updates in DFSP research, diagnostics, and treatment.
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