Malignant Transformation of a Peripheral Nerve Sheath Tumour in Neurofibromatosis Type 2

Abstract

Objectives: To report a rare case of malignant transformation of a peripheral nerve sheath tumour (MPNST) with associated metastasis in a patient with Neurofibromatosis 2 (NF2).NF2 is a hereditary disorder which presents with both central and peripheral nervous system tumours; caused by defects in the long arm of chromosome 22. The prevalence of NF2 is 1 in 50,000. NF2 is not a recognised risk factor for malignant transformation of schwannomas and this in this group is rarely seen, despite their high burden of schwannomas.Case: A 30-year-old patient with known NF2 presented to John Radcliffe Hospital with right sided hip pain, anterior thigh pain and weakness in his legs that developed over 7 months, affecting his mobility. Multiple investigations including MRI scans and ultrasound guided biopsy revealed a malignant peripheral nerve sheath tumour with metastatic spread, arising from a longstanding L4 lesion, previously diagnosed radiologically as a schwannoma. Conclusion:The case highlighted demonstrates a rare incidence of malignant transformation of a spinal schwannoma and outlines diagnostic and management approaches.