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A challenging case of sporadic melanocytoma of the jugular foramen
- Source :
- Donofrio, C A, Roncaroli, F, Riccio, L, Pereira, M, O'Sullivan, J, Mayers, H, Potter, G M, Djoukhadar, I & Rutherford, S A 2021, ' A CHALLENGING CASE OF SPORADIC MELANOCYTOMA OF THE JUGULAR FORAMEN ', Neuro-Chirurgie . https://doi.org/10.1016/j.neuchi.2021.06.001
- Publication Year :
- 2022
- Publisher :
- Elsevier BV, 2022.
-
Abstract
- Background The jugular foramen (JF) can be the site of several tumours. Paragangliomas, schwannomas and meningiomas are the most commonly reported. We describe a case of melanocytoma originating from the JF and presenting with an accessory nerve palsy. Illustrative case A 48-year-old woman presented with a 6-month history of cervical and left shoulder pain with wasting and weakness of the left trapezius. A Magnetic Resonance Imaging (MRI) showed a T1-hyperintense, T2-isointense, heterogeneously enhancing lesion involving the left JF and extending into the cerebello-medullary and cerebello-pontine cisterns. A retrosigmoid craniotomy was performed and a near-total removal achieved. The accessory nerve was involved by tumour and could not be preserved. Given the diagnostic uncertainty between melanotic schwannoma, metastatic melanoma and meningeal melanocytoma, next generation sequencing and genome-wide DNA methylation arrays were performed, documenting a mutation in GNA11 (c.6226A>T, p. Gln209Leu) and a methylation profile consistent with melanocytoma. The patient underwent adjuvant fractionated radiotherapy of the tumour remnant. A follow-up MRI 4 years after surgery did not show any tumour recurrence. Conclusions The differential diagnosis of skull base pigmented tumours can be challenging, particularly when they occur in unusual locations such as the JF. They can be misdiagnosed given their similar clinical, neuroradiological and pathological features if anatomy of the site of origin is not carefully considered and molecular tests are not performed, leading to erroneous treatment and follow-up planning.
- Subjects :
- Adult
medicine.medical_specialty
Accessory nerve
medicine.medical_treatment
DNA methylation arrays
Extra-dural neural axis aompartment
Jugular foramen
Melanocytic tumours
Melanocytoma
Next generation sequencing
Skull base
Skull Base Neoplasms
Jugular Foramina
Meningeal Neoplasms
medicine
Humans
Craniotomy
Palsy
medicine.diagnostic_test
business.industry
Brain tumour
Magnetic resonance imaging
Middle Aged
Magnetic Resonance Imaging
Skull
medicine.anatomical_structure
Female
Surgery
Neurology (clinical)
Radiology
Neoplasm Recurrence, Local
Differential diagnosis
business
Neurilemmoma
Subjects
Details
- ISSN :
- 00283770
- Volume :
- 68
- Database :
- OpenAIRE
- Journal :
- Neurochirurgie
- Accession number :
- edsair.doi.dedup.....00904336acab805def7f0691e4b15eeb