Insights into optic pathway glioma vision loss from mouse models of neurofibromatosis type 1.
RAS
brain tumor
neurofibromatosis type 1
neurofibromin
optic nerve
optic pathway glioma
retinal ganglion cell
vision loss
Journal
Journal of neuroscience research
ISSN: 1097-4547
Titre abrégé: J Neurosci Res
Pays: United States
ID NLM: 7600111
Informations de publication
Date de publication:
01 2019
01 2019
Historique:
received:
12
03
2018
accepted:
09
04
2018
pubmed:
29
4
2018
medline:
12
6
2020
entrez:
29
4
2018
Statut:
ppublish
Résumé
Neurofibromatosis type 1 (NF1) is a common cancer predisposition syndrome caused by mutations in the NF1 gene. The NF1-encoded protein (neurofibromin) is an inhibitor of the oncoprotein RAS and controls cell growth and survival. Individuals with NF1 are prone to developing low-grade tumors of the optic nerves, chiasm, tracts, and radiations, termed optic pathway gliomas (OPGs), which can cause vision loss. A paucity of surgical tumor specimens and of patient-derived xenografts for investigative studies has limited our understanding of human NF1-associated OPG (NF1-OPG). However, mice genetically engineered to harbor Nf1 gene mutations develop optic gliomas that share many features of their human counterparts. These genetically engineered mouse (GEM) strains have provided important insights into the cellular and molecular determinants that underlie mouse Nf1 optic glioma development, maintenance, and associated vision loss, with relevance by extension to human NF1-OPG disease. Herein, we review our current understanding of NF1-OPG pathobiology and describe the mechanisms responsible for tumor initiation, growth, and associated vision loss in Nf1 GEM models. We also discuss how Nf1 GEM and other preclinical models can be deployed to identify and evaluate molecularly targeted therapies for OPG, particularly as they pertain to future strategies aimed at preventing or improving tumor-associated vision loss in children with NF1.
Identifiants
pubmed: 29704429
doi: 10.1002/jnr.24250
pmc: PMC6766750
mid: NIHMS1051233
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
45-56Subventions
Organisme : NCI NIH HHS
ID : R01 CA195692
Pays : United States
Organisme : NINDS NIH HHS
ID : R35 NS097211
Pays : United States
Informations de copyright
© 2018 Wiley Periodicals, Inc.
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