Malignant peripheral nerve sheath tumour of the cervical vagus nerve in a neurofibromatosis type 1 patient.
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.
Molina
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AR
Head and Neck and Skull Base Surgery/Oncology Programme, Wellington Regional Plastic, Maxillofacial and Burns Unit, Hutt Hospital, Private Bag 31907, Lower Hutt, New Zealand.
Brasch
H
H
Tan
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ST
D000328:Adult; D003390:Cranial Nerve Neoplasms / Q000175:diagnosis* / Q000473:pathology / Q000601:surgery; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D018317:Nerve Sheath Neoplasms / Q000175:diagnosis* / Q000473:pathology / Q000601:surgery; D009456:Neurofibromatosis 1 / Q000473:pathology*; D014630:Vagus Nerve; D020421:Vagus Nerve Diseases / Q000175:diagnosis* / Q000473:pathology / Q000601:surgery