Giant dermatofibrosarcoma protuberans vulvae: rare clinical presentation and literature review.

Dermatofibrosarcoma protuberans (DFSP) is a rare, slow-growing fibro-cutaneous tumor of low to intermediate grade malignancy. It is characterized by local dermal and subcutaneous infiltration, but also with destructive infiltration of the surrounding tissues (muscle, fascia, and bone). The size of the tumor varies from small nodular to large neglected masses. Males and females are equally affected. The tumor is most often localized in the trunk and the proximal extremities. At a molecular level, more than 90% of all DFSP arise from the translocation of chromosomes 17 and 22. Clinically, it usually occurs in the form of flesh-colored or slightly yellow-brown skin tumor, irregular borders or multinodular appearance. The definitive diagnosis of DFSP is made by biopsy in combination with histological morphology and immunohistochemistry. The standard treatment for DFSP is surgical resection. Radiation treatment is an option for primary inoperable tumors and prior multiple recurrences. There is no consensus about chemotherapy regimens. Imatinib - a tyrosine kinase inhibitor - is approved in Europe for the treatment of inoperable primary tumors, locally inoperable recurrent disease, and metastatic DFSP. The recommended dose is 400-600 mg/daily. DFSP of the vulva is extremely rare, with less than 60 cases reported in the literature. Tumor behavior of DFSP of the vulva does not differ from other DFSP localizations. Spontaneous regressions are common while distant metastases are rare. Multidisciplinary approach requiring wide resection, margin assessment and reconstruction is the therapy of choice.