Malignant peripheral nerve sheath tumor in a patient with Neurofibromatosis 1: case report

Abstract

Neurofibromatosis type 1 is an autosomal dominant disease, with neurofibroma being the hallmark of this disease. Malignant peripheral nerve tumors are more frequent in neurofibromatosis type 1 and may result from the transformation of neurofibromas, arising de novo or post-radiotherapy. There are several features in the imaging studies, primarily in Magnetic Resonance, that may help differentiate benign lesions, such as neurofibromas, from malignant peripheral nerve tumors, namely their larger dimensions, dimensional increase over time, signal heterogeneity with intratumoral cystic change or perilesional edema.

We report a case of a 29-year-old patient with neurofibromatosis type 1 who presented with a lesion in the proximal right thigh with a progressive increase over several months. Imaging and pathologic studies of the biopsy and post-chirurgic revealed a malignant tumor of the peripheral nerve sheath.