A Novel c.6766_6767insAA Mutation in the Neurofibromin Gene in a Patient with Neurofibromatosis Type 1-Associated Glioblastoma.
10.26815/jkcns.2018.26.3.175
- Author:
Eun Hye YANG
1
;
Young Mi KIM
;
Kyung Joon KIM
;
Seung Heon CHA
;
Min Jung KWAK
Author Information
1. Department of Pediatrics, Pusan National University Hospital, Pusan National University School of Medicine and Biochemical Research Institute, Busan, Korea. glorymj0123@gmail.com
- Publication Type:Case Report
- Keywords:
Glioblastoma;
Mutation;
Neurofibromatosis 1;
Neurofibromin 1
- MeSH:
Adolescent;
Central Nervous System;
Glioblastoma*;
Humans;
Male;
Neurocutaneous Syndromes;
Neurofibromatoses*;
Neurofibromatosis 1;
Neurofibromin 1*;
Optic Nerve Glioma
- From:
Journal of the Korean Child Neurology Society
2018;26(3):175-179
- CountryRepublic of Korea
- Language:English
-
Abstract:
Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous syndrome caused by mutations in the neurofibromin gene. NF-1 patients have a high risk of tumors, and optic glioma is the most commonly observed central nervous system tumor in these patients. However, glioblastoma is extremely rare in pediatric NF-1 patients. Here we report the discovery of a novel heterozygous c.6766_6767insAA (p.Ser2256Lysfs*4), pathogenic mutation in the neurofibromin gene in a 17-year-old boy with NF-1-associated glioblastoma.
