Novel association of SMARCA4 deletion with Dermatofibrosarcoma protuberans: Novel insights and expansion of the molecular change of this tumour

Abstract Dermatofibrosarcoma protuberans (DFSP) is a rare indolent soft tissue sarcoma of the skin that accounts for less than 1 % of all soft tissue sarcomas. Clinically, it is a slow-growing, localised, low-grade, malignant fibrosarcoma. Here, we report the case of a 40-year-old woman diagnosed with DFSP harbouring a deletion in the SMARCA4 gene. The tumour was completely removed after surgery and the 1-year follow-up, no recurrence or additional malignancy was observed. Our review of the existing literature suggests that DFSP with a SMARCA4 gene deletion have not been reported to date. This case furthers our understanding on the molecular biology of DFSP for soft tissue sarcomas, which will therefore help clinicians to more accurately assess the prognoses of patients.