Introduction: The combination of neurofibromatosis and liposarcoma is very rare. We present a case of a dedifferentiated liposarcoma in the forearm, as a complication in a patient with neurofibromatosis type 1.
Case presentation: A Caucasian man with neurofibromatosis type 1 presented at our clinic complaining of a slow growing swelling on his left forearm over a period of one and a half years. Clinical examination and history pointed to malignancy. Radiological examination inclusive of magnetic resonance imaging and positron emission tomography confirmed our suspicion. A final diagnosis of dedifferentiated high-grade liposarcoma with axillary lymph node metastases was established after a pathological examination of a tumour biopsy. The consulting tumour board recommended either an elbow exarticulation or an accurate radical local resection including the metastatic axillary lymph nodes. Fortunately, we were able to perform an R-zero resection and the forearm could be saved. The treatment was completed with postoperative radiotherapy of the left forearm's operative bed, the left axillary and the supraclavicular regions. The patient decided against adjuvant chemotherapy.
Conclusion: Liposarcoma complicating neurofibromatosis type 1 is a very rare combination. Up to now, only five cases have been reported in the literature. We are adding a new case to this short list to stress the importance of early recognition. It is the first known case with this disease combination in an upper extremity. Liposarcoma is usually treated by surgery followed by radiotherapy. The role of chemotherapy is controversial and should be based on a decision made on a case-by-case basis.