Dermatofibrosarcoma Protuberans (DFSP): Current Treatments and Clinical Trials

隆突性皮肤纤维肉瘤(DFSP):当前治疗方法和临床试验

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Abstract

Dermatofibrosarcoma protuberans (DFSP) is a rare soft tissue sarcoma with an incidence of 0.008 to 0.045 cases per 100,000 per year, accounting for less than 1% of all soft tissue sarcomas. It mainly affects adults aged 30-50 years, usually on the trunk and proximal extremities. DFSP is Locally aggressive, with metastases occurring in up to 5% of cases, typically < 1%. Diagnosis is based on histology, including CD34 antigen expression and COL1A1-PDGFB fusion detection by FISH or RT-PCR. Mohs micrographic surgery is the mainstay of treatment, ensuring clear margins to minimise recurrence. Radiotherapy is used as adjuvant or preoperative therapy to improve Local control. Imatinib, a tyrosine kinase inhibitor, is highly effective in unresectable or metastatic DFSP, especially in cases with PDGFB mutations, achieving disease control in over 70% of patients and partial responses in 36%. The 10-year overall survival rate is 90.7%, although the fibrosarcomatous variant (DFSP-FS) has worse outcomes, with a 5-year Local progression-free survival rate of 33%. Rare metastases to the lungs, lymph nodes or brain are treated surgically; chemotherapy remains ineffective. We comprehensively reviewed the clinical data regarding DFSP, highlighting subtype differences (myxoid, pigmented, myoid, granular cell, sclerosing, atrophic, and fibrosarcomatous), as well as reconstruction methods.

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