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

Alex Flores; Ron Gadot; Ibrahim Noorbhai; Hayden Hall; Kent Alan Heck; Daniel Matthew Sholto Raper; David Xu; Patrick Karas; Jacob J. Mandel; Alexander Eli Ropper

doi:10.25259/SNI_416_2021

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

Alex Flores, Ron Gadot, Ibrahim Noorbhai, Hayden Hall, Kent Alan Heck, Daniel Matthew Sholto Raper, David Xu, Patrick Karas, Jacob J. Mandel, Alexander Eli Ropper

Research output: Contribution to journal › Review article › peer-review

4 Scopus citations

Abstract

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.

Original language	English (US)
Article number	A9
Journal	Surgical Neurology International
Volume	12
DOIs	https://doi.org/10.25259/SNI_416_2021
State	Published - 2021
Externally published	Yes

Keywords

GNA11 mutation
Intramedullary spinal tumor
Melanocytoma
S-100

ASJC Scopus subject areas

Surgery
Clinical Neurology

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10.25259/SNI_416_2021

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Flores, A., Gadot, R., Noorbhai, I., Hall, H., Heck, K. A., Raper, D. M. S., Xu, D., Karas, P., Mandel, J. J., & Ropper, A. E. (2021). S-100-negative, GNA11 mutation-positive intramedullary meningeal melanocytoma of the thoracic spine: A radiographic challenge and histologic anomaly. Surgical Neurology International, 12, Article A9. https://doi.org/10.25259/SNI_416_2021

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

abstract = "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.",

keywords = "GNA11 mutation, Intramedullary spinal tumor, Melanocytoma, S-100",

author = "Alex Flores and Ron Gadot and Ibrahim Noorbhai and Hayden Hall and Heck, {Kent Alan} and Raper, {Daniel Matthew Sholto} and David Xu and Patrick Karas and Mandel, {Jacob J.} and Ropper, {Alexander Eli}",

year = "2021",

doi = "10.25259/SNI_416_2021",

language = "English (US)",

volume = "12",

journal = "Surgical Neurology International",

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T1 - S-100-negative, GNA11 mutation-positive intramedullary meningeal melanocytoma of the thoracic spine

T2 - A radiographic challenge and histologic anomaly

AU - Flores, Alex

AU - Gadot, Ron

AU - Noorbhai, Ibrahim

AU - Hall, Hayden

AU - Heck, Kent Alan

AU - Raper, Daniel Matthew Sholto

AU - Xu, David

AU - Karas, Patrick

AU - Mandel, Jacob J.

AU - Ropper, Alexander Eli

PY - 2021

Y1 - 2021

N2 - 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.

AB - 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.

KW - GNA11 mutation

KW - Intramedullary spinal tumor

KW - Melanocytoma

KW - S-100

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U2 - 10.25259/SNI_416_2021

DO - 10.25259/SNI_416_2021

M3 - Review article

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AN - SCOPUS:85108916257

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VL - 12

JO - Surgical Neurology International

JF - Surgical Neurology International

M1 - A9

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

Abstract

Keywords

ASJC Scopus subject areas

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