Case report
Malignant peripheral nerve sheath tumour of the cervical vagus nerve in a neurofibromatosis type 1 patient

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Summary

One serious complication of neurofibromatosis type 1 (NF1) is the development of malignant peripheral nerve sheath tumours (MPNSTs). These malignancies often develop within pre-existing plexiform neurofibromas and their development is now thought to be associated with both tumour suppressor gene mutations and dysregulated growth factor signalling. Recent work demonstrates that the lifetime risk of malignant transformation is significantly greater than previously thought. Ionising radiation, a long-standing disease, particularly the presence of a large number of plexiform neurofibromas from an early age, are suggested risk factors.

We present an NF1 patient who developed an MPNST of the cervical vagus nerve which was successfully treated with surgery. Close monitoring of patients with NF and a high level of suspicion towards rapidly enlarging and painful swellings is merited as these features may signify malignant transformation. Whether a positive history of MPNST in other affected family members predisposes the individual to a higher risk of malignant transformation is unclear.

Section snippets

Case report

A 23-year-old woman with a known diagnosis of NF1 was referred to our Head and Neck Service with a rapidly enlarging and painful swelling on the left side of her neck associated with a dry cough and hoarseness of voice. She had a positive family history of NF1 affecting her paternal grandfather, father, and brother. Her brother died of MPNST in the pelvis at the age of 18, but her grandfather died of natural causes and her father remained in good health. Examination revealed a 5 cm × 3 cm

Discussion

Neurogenic tumours associated with NF1 comprise benign and MPNSTs, and central nervous system tumours including optic nerve gliomas (benign astrocyte-derived tumours of the optic nerve occurring in approximately one in five children with NF1), astrocytomas and heterotopias.5 Benign peripheral nerve tumours include neurofibromas of localised, plexiform, diffuse and pigmented types, Schwannomas and ganglioneuromas. Rarely an MPNST may arise within a plexiform neurofibroma located within the deep

Acknowledgements

We are grateful to Professor Christopher Fletcher, MD, of Harvard Medical School for his assistance in the histopathologic diagnosis of our patient. We also acknowledge Drs Joanne Dixon, clinical geneticist, Richard Evans, vascular surgeon, Mark A. Rider, hand surgeon and Hans Stegahius, otolaryngologist, for their involvement in the care of this patient.

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