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

Affiliations
  • 1Department of Pediatrics, Pusan National University Hospital, Pusan National University School of Medicine and Biochemical Research Institute, Busan, Korea. glorymj0123@gmail.com
  • 2Department of Neurological Surgery, Pusan National University Hospital, Pusan National University School of Medicine and Biochemical Research Institute, Busan, Korea.

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
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