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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.


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.


Cite This Article

OZ, O. (2020). A Novel Mutation in Neurofibromatosis Type 1 with Optic Glioma. Oncologie, 22(3), 155–160.

This work is licensed under a Creative Commons Attribution 4.0 International License , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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