Elias Lugo-Fagundo, Carolina Lugo-Fagundo, Edmund Weisberg, Elliot K Fishman
Radiol Case Rep . 2022 Nov 30;18(2):620-623. doi: 10.1016/j.radcr.2022.10.104. eCollection 2023 Feb.
Malignant peripheral nerve sheath tumors are soft tissue sarcomas that typically arise from a neurofibroma. Patients with neurofibromatosis type 1 represent approximately half of the population diagnosed with these tumors. This autosomal-dominant genetic disorder is distinguished by loss-of-function mutations in the neurofibromin 1 gene, which ultimately promotes atypical cellular proliferation. These biologically aggressive tumors are associated with a poor prognosis as they are resistant to available therapies and have high rates of recurrence, progression, and mortality. In this article, we report the case of a 45-year-old male with a history of neurofibromatosis type 1 who was diagnosed with a malignant peripheral nerve sheath tumor. We focus on optimizing diagnosis and treatment through the application of radiological imaging modalities, including cinematic rendering.