A CHALLENGING CASE OF SPORADIC MELANOCYTOMA OF THE JUGULAR FORAMENCitation formats

  • External authors:
  • Carmine Antonio Donofrio
  • Lucia Riccio
  • Marta Pereira
  • Helen Mayers
  • Gillian Margaret Potter
  • Ibrahim Djoukhadar
  • Scott A Rutherford

Standard

A CHALLENGING CASE OF SPORADIC MELANOCYTOMA OF THE JUGULAR FORAMEN. / Donofrio, Carmine Antonio; Roncaroli, Federico; Riccio, Lucia; Pereira, Marta; O'Sullivan, James; Mayers, Helen; Potter, Gillian Margaret; Djoukhadar, Ibrahim; Rutherford, Scott A.

In: Neuro-Chirurgie, 19.06.2021.

Research output: Contribution to journalArticlepeer-review

Harvard

Donofrio, CA, Roncaroli, F, Riccio, L, Pereira, M, O'Sullivan, J, Mayers, H, Potter, GM, Djoukhadar, I & Rutherford, SA 2021, 'A CHALLENGING CASE OF SPORADIC MELANOCYTOMA OF THE JUGULAR FORAMEN', Neuro-Chirurgie. https://doi.org/10.1016/j.neuchi.2021.06.001

APA

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

Vancouver

Author

Donofrio, Carmine Antonio ; Roncaroli, Federico ; Riccio, Lucia ; Pereira, Marta ; O'Sullivan, James ; Mayers, Helen ; Potter, Gillian Margaret ; Djoukhadar, Ibrahim ; Rutherford, Scott A. / A CHALLENGING CASE OF SPORADIC MELANOCYTOMA OF THE JUGULAR FORAMEN. In: Neuro-Chirurgie. 2021.

Bibtex

@article{c2a4135afbb44e008b8892f903c265e8,
title = "A CHALLENGING CASE OF SPORADIC MELANOCYTOMA OF THE JUGULAR FORAMEN",
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.",
keywords = "Brain tumour",
author = "Donofrio, {Carmine Antonio} and Federico Roncaroli and Lucia Riccio and Marta Pereira and James O'Sullivan and Helen Mayers and Potter, {Gillian Margaret} and Ibrahim Djoukhadar and Rutherford, {Scott A}",
note = "Copyright {\textcopyright} 2021 Elsevier Masson SAS. All rights reserved.",
year = "2021",
month = jun,
day = "19",
doi = "10.1016/j.neuchi.2021.06.001",
language = "English",
journal = "Neurochirurgie",
issn = "0028-3770",
publisher = "Elsevier BV",

}

RIS

TY - JOUR

T1 - A CHALLENGING CASE OF SPORADIC MELANOCYTOMA OF THE JUGULAR FORAMEN

AU - Donofrio, Carmine Antonio

AU - Roncaroli, Federico

AU - Riccio, Lucia

AU - Pereira, Marta

AU - O'Sullivan, James

AU - Mayers, Helen

AU - Potter, Gillian Margaret

AU - Djoukhadar, Ibrahim

AU - Rutherford, Scott A

N1 - Copyright © 2021 Elsevier Masson SAS. All rights reserved.

PY - 2021/6/19

Y1 - 2021/6/19

N2 - 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.

AB - 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.

KW - Brain tumour

U2 - 10.1016/j.neuchi.2021.06.001

DO - 10.1016/j.neuchi.2021.06.001

M3 - Article

C2 - 34157339

JO - Neurochirurgie

JF - Neurochirurgie

SN - 0028-3770

ER -