Multiple Intraspinal Gangliogliomas in a Child With Neurofibromatosis Type 1: Case Report and Literature Review.
J Pediatr Hematol Oncol
; 43(7): e979-e982, 2021 Oct 01.
Article
en En
| MEDLINE
| ID: mdl-33448717
ABSTRACT
Neurofibromatosis type 1 (NF1)-associated primary intramedullary spinal cord ganglioglioma has only rarely been reported. Because of frequent nonresectability, they pose significant management challenges despite clinical indolence. This report describes a 4-year-old girl with NF1 who was found to have multiple discrete, infiltrative intramedullary cord masses, and biopsy demonstrated World Health Organization grade I ganglioglioma. Panel-based next-generation sequencing showed her previously identified germline NF1 mutation and a second somatic NF1 mutation. This represents the first report of multiple primary intramedullary gangliogliomas in a child with NF1 and demonstrates how biopsy with panel-based next-generation sequencing provides potential targets for MAPK/MEK/BRAF pathway inhibitor therapy.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Médula Espinal
/
Neurofibromatosis 1
/
Ganglioglioma
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
Límite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
J Pediatr Hematol Oncol
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2021
Tipo del documento:
Article