Journal of Plastic, Reconstructive & Aesthetic Surgery
Case reportMalignant peripheral nerve sheath tumour of the cervical vagus nerve in a neurofibromatosis type 1 patient
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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Cited by (8)
A rare case of cervical hypoglossal nerve neurofibromas in a patient with type 1 neurofibromatosis
2022, Brazilian Journal of OtorhinolaryngologyCitation Excerpt :Neurofibromatosis, a genetic disorder characterised by abnormalities of the skin, bone and nervous system, is associated with the development of neurogenic tumors throughout the body. Neurogenic cells originate from neural crest cells, which give rise to schwannomas and neurofibromas.4 Patients with neurofibromatosis have variable phenotypic expression, exhibiting a spectrum of clinical manifestations and severity of disease.
Malignant nerve sheath tumor involving glossopharyngeal, vagus and spinal nerve with intracranial-extracranial extension and systemic metastases in a patient with type 1 neurofibromatosis: A case report
2016, International Journal of Surgery Case ReportsCitation Excerpt :In a study that analyzed the factors that were associated with prognosis, it was found that a previous radiation and positive margins status of resection site were associated with a shorter survival when the disease was localized; likewise, the size, grade and histologic subtype were related to poor prognosis when there was metastatic disease [17]. There are few reports in the literature of MPNST involving the lower cranial nerves in the cervical level with intracranial and extracranial components [10], one in a pediatric patient [6], and another in an adult patient in Japanese literature [16]. We report the first case in English-written literature of an adult patient with NF1 and a MPNST with intracranial and extracraneal extension through the jugular foramen and systemic metastasis.
Malignant peripheral nerve sheath tumor of the vagus nerve in a teenager with the neurofibromatosis 1 gene mutation: A case report
2011, Journal of Pediatric SurgeryCitation Excerpt :In the general population, only 10% to 15% are diagnosed in the first 2 decades of life, although patients with the NF1 gene mutation present earlier [4]. Malignant peripheral nerve sheath tumors affect the trunk, whereas the head and neck are rarely involved: To the best of our knowledge, only 3 prior publications have described vagus nerve localization in patients with the NF1 mutation [5], and one of them concerned a 45-year-old patient with very extensive disease and poor prognosis probably related (as reported by the authors) to delay in diagnosis [6]. Achieving a diagnosis can be difficult, especially for deeply located tumors, as in the vagus nerve.
Large cervical vagus nerve tumor in a patient with neurofibromatosis type 1 treated with gross total resection: Case report and review of the literature
2016, Journal of Brachial Plexus and Peripheral Nerve InjuryOutcomes of the Treatment of Head and Neck Sarcomas in a Tertiary Referral Center
2015, Frontiers in SurgeryMalignant peripheral nerve sheath tumor of the cervical vagus nerve in a neurofibromatosis type 1 patient - An unusual presentation
2010, Online Journal of Health and Allied Sciences