Open Access
CASE REPORT
A Novel Mutation in Neurofibromatosis Type 1 with Optic Glioma
Ozlem OZ*
Department of Medical Genetics, Harran University Faculty of Medicine, Sanlıurfa, Turkey
* Corresponding Author: Ozlem OZ. Email:
Oncologie 2020, 22(3), 155-160. https://doi.org/10.32604/oncologie.2020.014087
Abstract
Neurofibromatosis type 1 is an autosomal dominant disorder which is
characterized by multiple café-au-lait spots in the body, intertriginous freckles,
Lisch nodules, neurofibroma, optic glioma and bone dysplasia. One of the
clinical characteristics of Neurofibromatosis type 1 is the risk of benign and
malignant tumor development. Optic gliomas, a type of astrocytoma, are the
most common central nervous system complication in children with
Neurofibromatosis type 1 and are seen in 10–15% of cases. In this case report, a
patient with an optic glioma and a mutation that was not previously identified in
the NF1 gene is presented in the light of the literature. Identification of new
mutations that cause Neurofibromatosis type 1 disease and reporting of clinical
findings caused by the mutations will allow a large proportion of genotypephenotype correlation. Early diagnosis has a great importance in terms of followup of patients for malignancies that may develop in the future.
Keywords
Cite This Article
OZ, O. (2020). A Novel Mutation in Neurofibromatosis Type 1 with Optic Glioma.
Oncologie, 22(3), 155–160. https://doi.org/10.32604/oncologie.2020.014087