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S-100-negative, GNA11 mutation-positive intramedullary meningeal melanocytoma of the thoracic spine: A radiographic challenge and histologic anomaly

BACKGROUND: Intramedullary melanocytomas are exceedingly rare and their management is largely based on case reports and small clinical series. They have characteristic imaging and histologic findings that can aid in their diagnosis. Genetic testing may be required for definitive diagnosis and manage...

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Autores principales: Flores, Alex, Gadot, Ron, Noorbhai, Ibrahim, Hall, Hayden, Heck, Kent Alan, Raper, Daniel Matthew Sholto, Xu, David, Karas, Patrick, Mandel, Jacob J., Ropper, Alexander Eli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Scientific Scholar 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8326103/
https://www.ncbi.nlm.nih.gov/pubmed/34345456
http://dx.doi.org/10.25259/SNI_416_2021
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author Flores, Alex
Gadot, Ron
Noorbhai, Ibrahim
Hall, Hayden
Heck, Kent Alan
Raper, Daniel Matthew Sholto
Xu, David
Karas, Patrick
Mandel, Jacob J.
Ropper, Alexander Eli
author_facet Flores, Alex
Gadot, Ron
Noorbhai, Ibrahim
Hall, Hayden
Heck, Kent Alan
Raper, Daniel Matthew Sholto
Xu, David
Karas, Patrick
Mandel, Jacob J.
Ropper, Alexander Eli
author_sort Flores, Alex
collection PubMed
description BACKGROUND: Intramedullary melanocytomas are exceedingly rare and their management is largely based on case reports and small clinical series. They have characteristic imaging and histologic findings that can aid in their diagnosis. Genetic testing may be required for definitive diagnosis and management guidance in ambiguous cases. CASE DESCRIPTION: We present the case of a thoracic intramedullary meningeal melanocytoma in a patient unable to undergo an MRI. CONCLUSION: This is the first reported S-100-negative case with genetic testing to support the diagnosis of a rare intramedullary melanocytoma.
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spelling pubmed-83261032021-08-02 S-100-negative, GNA11 mutation-positive intramedullary meningeal melanocytoma of the thoracic spine: A radiographic challenge and histologic anomaly Flores, Alex Gadot, Ron Noorbhai, Ibrahim Hall, Hayden Heck, Kent Alan Raper, Daniel Matthew Sholto Xu, David Karas, Patrick Mandel, Jacob J. Ropper, Alexander Eli Surg Neurol Int Case Report BACKGROUND: Intramedullary melanocytomas are exceedingly rare and their management is largely based on case reports and small clinical series. They have characteristic imaging and histologic findings that can aid in their diagnosis. Genetic testing may be required for definitive diagnosis and management guidance in ambiguous cases. CASE DESCRIPTION: We present the case of a thoracic intramedullary meningeal melanocytoma in a patient unable to undergo an MRI. CONCLUSION: This is the first reported S-100-negative case with genetic testing to support the diagnosis of a rare intramedullary melanocytoma. Scientific Scholar 2021-06-28 /pmc/articles/PMC8326103/ /pubmed/34345456 http://dx.doi.org/10.25259/SNI_416_2021 Text en Copyright: © 2021 Surgical Neurology International https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Case Report
Flores, Alex
Gadot, Ron
Noorbhai, Ibrahim
Hall, Hayden
Heck, Kent Alan
Raper, Daniel Matthew Sholto
Xu, David
Karas, Patrick
Mandel, Jacob J.
Ropper, Alexander Eli
S-100-negative, GNA11 mutation-positive intramedullary meningeal melanocytoma of the thoracic spine: A radiographic challenge and histologic anomaly
title S-100-negative, GNA11 mutation-positive intramedullary meningeal melanocytoma of the thoracic spine: A radiographic challenge and histologic anomaly
title_full S-100-negative, GNA11 mutation-positive intramedullary meningeal melanocytoma of the thoracic spine: A radiographic challenge and histologic anomaly
title_fullStr S-100-negative, GNA11 mutation-positive intramedullary meningeal melanocytoma of the thoracic spine: A radiographic challenge and histologic anomaly
title_full_unstemmed S-100-negative, GNA11 mutation-positive intramedullary meningeal melanocytoma of the thoracic spine: A radiographic challenge and histologic anomaly
title_short S-100-negative, GNA11 mutation-positive intramedullary meningeal melanocytoma of the thoracic spine: A radiographic challenge and histologic anomaly
title_sort s-100-negative, gna11 mutation-positive intramedullary meningeal melanocytoma of the thoracic spine: a radiographic challenge and histologic anomaly
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8326103/
https://www.ncbi.nlm.nih.gov/pubmed/34345456
http://dx.doi.org/10.25259/SNI_416_2021
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