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KMID : 0391520180260030175
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Journal of the Korean Child Neurology Society
2018 Volume.26 No. 3 p.175 ~ p.179
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A Novel c.6766_6767insAA Mutation in the Neurofibromin Gene in a Patient with Neurofibromatosis Type 1-Associated Glioblastoma
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Yang Eun-Hye
Kim Young-Mi
Kim Kyung-Joon
Cha Seung-Heon
Kwak Min-Jung
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Abstract
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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.
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KEYWORD
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Glioblastoma, Mutation, Neurofibromatosis 1, Neurofibromin 1
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