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...

Descripción completa

Detalles Bibliográficos
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:
Case Report
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
Descripción
Sumario: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.

Ejemplares similares