Malignant Peripheral Nerve Sheath Tumour Presenting as Sciatica in a Patient with Neurofibromatosis Type 1: Is Magnetic Resonance Imaging an Effective Screening Tool?

Abstract

Peripheral malignant nerve sheath tumours (MPNST) are rare and aggressive soft tissue sarcomas often associated with neurofibromatosis type I (NF-1). We describe a case of 26-year-old female with NF-1, initially misdiagnosed as sciatica, who was later found to have a malignant spindle cell peripheral nerve sheath tumour of the right sciatic nerve. Magnetic resonance imaging (MRI) proved to be a valuable tool for diagnosis. This case illustrates the importance of considering the transformation of neurofibromas into MPNST as a potential cause of worsening neuropathic pain in patients with NF-1. Given the overlap in clinical presentation with benign conditions, we analyse the utility of MRI for early screening for. Early detection is crucial to improve the chances of cure and prolonged disease-free survival.

Learning points: Malignant peripheral nerve sheath tumours can occur in patients with neurofibromatosis and present as sciatica.Magnetic resonance imaging screening should be considered early on in this patient population.