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Neurofibromatosis type 1 associated low grade gliomas:A comparison with sporadic low grade gliomas
Authors
Maartje Boon
Oebele F. Brouwer
+7Β more
Eveline S. J. M. de Bont
Wilfred F. A. den Dunnen
Annemarie Fock
Jelte Helfferich
Eelco W. Hoving
Lisethe Meijer
Ronald Nijmeijer
Publication date
1 August 2016
Publisher
'Elsevier BV'
Doi
Cite
Abstract
AbstractNeurofibromatosis type 1 (NF1) is an autosomal dominant disorder, associated with a variable clinical phenotype including cafΓ©-au-lait spots, intertriginous freckling, Lisch nodules, neurofibromas, optic pathway gliomas and distinctive bony lesions. NF1 is caused by a mutation in the NF1 gene, which codes for neurofibromin, a large protein involved in the MAPK- and the mTOR-pathway through RAS-RAF signalling.NF1 is a known tumour predisposition syndrome, associated with different tumours of the nervous system including low grade gliomas (LGGs) in the paediatric population. The focus of this review is on grade I pilocytic astrocytomas (PAs), the most commonly observed histologic subtype of low grade gliomas in NF1. Clinically, these PAs have a better prognosis and show different localisation patterns than their sporadic counterparts, which are most commonly associated with a KIAA1549:BRAF fusion.In this review, possible mechanisms of tumourigenesis in LGGs with and without NF1 will be discussed, including the contribution of different signalling pathways and tumour microenvironment. Furthermore we will discuss how increased understanding of tumourigenesis may lead to new potential targets for treatment
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