NF1-like optic pathway gliomas in children: clinical and molecular characterization of this specific presentation.

ABSTRACT:

Background

Pediatric neurofibromatosis type 1 (NF1)-associated optic pathway gliomas (OPGs) exhibit different clinico-radiological features, treatment, and outcome compared with sporadic OPGs. While NF1-associated OPGs are caused by complete loss-of-function of the NF1 gene, other genetic alterations of the RAS-MAPK pathway are frequently described in the sporadic cases. We identified a group of patients who presented OPGs with typical radiological features of NF1-associated OPGs but without the NF1 diagnostic criteria. We aim to investigate into the possible molecular mechanisms underlying this "NF1-like" pediatric OPGs presentation.

Methods

We analyzed clinico-radiological features of 16 children with NF1-like OPGs and without NF1 diagnostic criteria. We performed t

SUBMITTER: Lobon-Iglesias MJ 

PROVIDER: S-EPMC7317061 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature