@Article{oncologie.2020.014087,
AUTHOR = {Ozlem OZ},
TITLE = {A Novel Mutation in Neurofibromatosis Type 1 with Optic Glioma},
JOURNAL = {Oncologie},
VOLUME = {22},
YEAR = {2020},
NUMBER = {3},
PAGES = {155--160},
URL = {http://www.techscience.com/oncologie/v22n3/40580},
ISSN = {1765-2839},
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.},
DOI = {10.32604/oncologie.2020.014087}
}