Multiple Intraspinal Gangliogliomas in a Child With Neurofibromatosis Type 1: Case Report and Literature Review. Issue 7 (October 2021)

• Record Type: Journal Article
• Authors: Morales, Erin; Viskochil, David; Hofmann, Jeffrey; Hagedorn, Caroline; Linscott, Luke; Cheshier, Samuel; Bruggers, Carol S.
• Is Part Of: Journal of pediatric hematology/oncology. Volume 43:Issue 7(2021)
• Publication Date: 2021-10
• Subjects: low-grade glioma -- ganglioglioma -- neurofibromatosis type 1 -- spinal cord tumors; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000002035
• Languages: English
• ISSNs: 1077-4114

Abstract

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.