Home CONTACT Neoplasma 2013 Neoplasma Vol.60, No.6, p.655-665, 2013

Journal info


6 times a year.
Founded: 1954
ISSN 0028-2685
ISSN 1338-4317 (online)

Published in English

Editorial Info
Abstracted and Indexed
Submission Guidelines

Select Journal







Webshop Cart

Your Cart is currently empty.

Info: Your browser does not accept cookies. To put products into your cart and purchase them you need to enable cookies.

Neoplasma Vol.60, No.6, p.655-665, 2013

Title: Clustering of mutations in the 5’ tertile of the NF1 gene in Slovakia patients with optic pathway glioma
Author: A. Bolcekova, M. Nemethova, A. Zatkova, K. Hlinkova, S. Pozgayova, A. Hlavata, L. Kadasi, D. Durovcikova, A. Gerinec, K. Husakova, Z. Pavlovicova, M. Holobrada, L. Kovacs, D. Ilencikova

Abstract: Optic pathway gliomas (OPG) occur in 15% of patients with neurofibromatosis type 1 (NF1; OMIM 162200). Genotype-phenotype correlations in patients with NF1 may help to determine the risk group for developing complications such as OPG in coincidence with other NF1.features.
We evaluated 52 patients with NF1 (25 with OPG and 27 without OPG). All subjects underwent a clinical examination focused on neurofibromatosis type 1 and molecular diagnostics of NF1 gene using protocol based on RNA analysis confirming the diagnosis of NF1.
In the group with OPG patients, there was a significantly higher incidence of freckling (P=0.017), neurofibromatosis bright objects (NBO) (P=0.0038), compared to the group without OPG. The differences between the groups with respect to Lisch nodules were on the borderline of statistical significance (P=0.088). The frequency of neurofibromas in the group with OPG was not significant (P=0.9). From all patients with the mutation localized in the first tertile of the NF1 gene majority (71%) had optic glioma compared to individuals who didn’t have the OPG 29% (P=0.0049).
Our results present the clustering of mutations in the 5’tertile of NF1 gene in patients with optic nerve glioma and suggest higher incidence of freckling and neurofibromatosis brain objects in these patients. Molecular analysis of NF1 gene is important part in complex management of NF1 patients and contributes to a better understanding of clinical picture of NF1 patients.

Keywords: optic pathway glioma, NF1 mutation, genotype-phenotype correlation
Published online: 01-Aug-2013
Year: 2013, Volume: 60, Issue: 6 Page From: 655, Page To: 665
doi:10.4149/neo_2013_084


download file



© AEPress s.r.o
Copyright notice: For any permission to reproduce, archive or otherwise use the documents in the ELiS, please contact AEP.