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Title: Clinical signs and genetic evaluation of patients with neurofibromatosis type 1 with and without optic pathway gliomas in a center in Turkey
Authors: Sharafi, Parisa
Varan, Ali
Ersoy-Evans, Sibel
Ayter, Şükriye
Keywords: Neurofibromatosis type 1
Optic pathway gliomas
Clinical symptoms of OPG
Genetic mutation analysis
Nf1 Gene
Mutation Analysis
Issue Date: 2023
Publisher: Springer
Abstract: PurposeOpticpathway gliomas (OPGs) occur in 15% of patients with neurofibromatosis type 1 (NF1). Their location renders biopsy or surgical resection difficult because of the risk of vision loss. Therefore, only a few NF1-OPGs have been used for tissue diagnosis, and only a few analyses have been published on the molecular changes that drive tumorigenesis.MethodsDue to this reason, we evaluated 305 NF1 patients, 34 with OPG and 271 without OPG for germ line mutations. All subjects underwent clinical examination and DNA analysis of NF1, confirming the diagnosis of NF1.ResultsClinically, the group with OPG had a significantly higher incidence of bone dysplasia (P < 0.001) and more cafe-au-lait spots (P = 0.001) compared to those in the group without OPG. The frequency of Lisch nodules was on the borderline of statistical significance (P = 0.058), whereas the frequency of neurofibromas did not differ significantly (cutaneous, P = 0.64; plexiform, P = 0.44). Individuals with OPG mostly had mutations in the first one-third of the NF1 gene compared with that in patients who did not have OPG. Some identical mutations were detected in unrelated families with NF1-OPG.ConclusionThe observation of certain phenotypic features and the correlation between genotype and phenotype might help to determine the risk of developing OPG with NF1.
Description: Article; Early Access
ISSN: 0256-7040
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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