Dermatofibrosarcoma Protuberans Presenting in a Patient With Neurofibromatosis Type 1: Potential Implications on Treatment

Bianca N Eubanks,Sabrina House,Nicholas Logemann,Dawood A Tafti

doi:10.7759/cureus.17675

Abstract

Dermatofibrosarcoma protuberans (DFSP) is a rare soft tissue sarcoma. Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome that affects multiple organ systems. We present the case of a 47-year-old African American male with a two-year history of a slowly enlarging right lower back lesion. Upon workup, the 3 × 2 cm mass was biopsied confirming a diagnosis of DFSP. This was identified in concert with axillary freckling, café-au-lait spots, and pedunculated plaques evaluated with biopsy. The findings were consistent with neurofibromas, leading to a new diagnosis of NF1. The patient was definitively treated with wide local excision of the DFSP lesion without tumor recurrence over six years. DFSP has a favorable prognosis when treated with wide local excision and negative surgical margins. However, lesions may recur with inadequate margins. Although deferred in our patient, treatment with imatinib mesylate, a tyrosine kinase inhibitor, may be employed in the setting of advanced disease, metastasis, positive surgical margins, or irresectable locations. Imatinib has also been used to treat NF1. Hence, we posit that the concomitant presentation of these two disease entities in our patient highlights a potentially unique treatment with imatinib mesylate. To our knowledge, this is the second reported case of both entities in the same patient.

Highlights

Dermatofibrosarcoma protuberans (DFSP) is an uncommon, slow-growing, intermediate-grade tumor in the dermis and subcutaneous fat [1]
Some recent studies suggest Mohs micrographic surgery is a better therapeutic option compared to wide local excision, with lower rates of local recurrence given the ability of DFSP lesions to be more widespread than clinically apparent [1]
C-kit: chemotactic kit ligand; NF1: neurofibromatosis type 1. This case report illustrates a rare case of DFSP occurring in the context of a patient with NF1

Summary

Introduction

Dermatofibrosarcoma protuberans (DFSP) is an uncommon, slow-growing, intermediate-grade tumor in the dermis and subcutaneous fat [1] It most commonly presents as a firm, protuberant growth in adults [1]. A subsequent ultrasound-guided biopsy demonstrated histopathologic findings of spindle cells in a storiform pattern with low mitotic activity within the subcutaneous fat, consistent with the diagnosis of DFSP (Figure 3). Based on this diagnosis, the patient was referred to a tertiary care center for definitive treatment to include wide local excision; treatment with imatinib mesylate was deferred. The patient had no other systemic involvement and is six years from DFSP resection and remains tumor-free

Discussion

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Conclusions

Disclosures