J Korean Child Neurol Soc.  2018 Sep;26(3):175-179. 10.26815/jkcns.2018.26.3.175.

A Novel c.6766_6767insAA Mutation in the Neurofibromin Gene in a Patient with Neurofibromatosis Type 1-Associated Glioblastoma

• Yang EH
• Kim YM
• Kim KJ
• Cha SH
• Kwak MJ

• KMID: 2435231
• DOI: http://doi.org/10.26815/jkcns.2018.26.3.175

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.

Keyword

Glioblastoma; Mutation; Neurofibromatosis 1; Neurofibromin 1

MeSH Terms

Adolescent
Central Nervous System
Glioblastoma*
Humans
Male
Neurocutaneous Syndromes
Neurofibromatoses*
Neurofibromatosis 1
Neurofibromin 1*
Optic Nerve Glioma
Neurofibromin 1