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

A Ali,Pm Pretorius,A Parry,D Halliday,J Halliday

doi:10.23937/2643-4474/1710095

Abstract

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.

Highlights

Neurofibromatosis 2 (NF2) is an autosomal dominant, hereditary disorder caused by defects in the long arm of chromosome 22 which lead to benign tumour growth [1]
The case highlighted demonstrates a rare incidence of malignant transformation of a spinal schwannoma and outlines diagnostic and management approaches
The difficult decision was made to palliate the patient and provide symptom control with the aim to discharge the patient home for end of life care. He subsequently continued to rapidly deteriorate and passed away approximately 6 weeks after diagnosis. This case highlights a patient with NF2 who had undergone an extremely rare malignant transformation of a spinal nerve root schwannoma

Summary

Introduction

Neurofibromatosis 2 (NF2) is an autosomal dominant, hereditary disorder caused by defects in the long arm of chromosome 22 which lead to benign tumour growth [1]. Prevalence of NF2 is 1 in 50,000 [2], with patients developing both central and peripheral nervous system tumours [3]. Vestibular schwannomas are most commonly seen (95% of patients) and the presence of bilateral vestibular schwannomas is diagnostic. NF2 is associated with meningiomas, gliomas, cerebral calcification, posterior subcapsular lens opacity and schwannomas in nerves other than cranial nerve VIII. 90% of patients will develop schwannomas in the spine [3]. Malignant transformation of schwannomas is rarely seen. If by some small chance malignant change does occur, it is usually to neurofibrosarcoma [4]

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