Accidental diagnosis of a giant malignant peripheral nerve sheath tumor associated with neurofibromatosis type 1 in the back area: a case report

Abstract

Malignant peripheral nerve sheath tumors (MPNSTs) are rare and aggressive soft tissue sarcomas of neural origin. Approximately 50% of MPNSTs are associated with neurofibromatosis type 1 (NF1), a neurocutaneous condition characterized by skin discoloration. MPNSTs occur in approximately 4% of patients with NF1. Malignancy should be suspected when a large mass consistent with a neurofibroma is observed with heterogeneity on a radiologic examination. In our case, immunohistochemistry revealed the presence of antigens for both the tumor protein p53 and the proliferation marker Ki-67 (MKI67). In particular, MKI67 positivity helped to differentiate MPNST from neurofibroma. Complete surgical resection is the standard treatment. After surgery, radiation therapy is typically administered to the resection area to reduce the likelihood of recurrence. Following treatment, patients should undergo regular clinical follow-up using a combination of magnetic resonance imaging, computed tomography, and bone scanning for several years to monitor them for possible metastasis.