Molecular characterization of gliomas and glioneuronal tumors amid Noonan syndrome: cancer predisposition examined.

ABSTRACT:

Introduction

In the setting of pediatric and adolescent young adult cancer, increased access to genomic profiling has enhanced the detection of genetic variation associated with cancer predisposition, including germline syndromic conditions. Noonan syndrome (NS) is associated with the germline RAS pathway activating alterations and increased risk of cancer. Herein, we describe our comprehensive molecular profiling approach, the association of NS with glioma and glioneuronal tumors, and the clinical and histopathologic characteristics associated with the disease.

Methods

Within an institutional pediatric cancer cohort (n = 314), molecular profiling comprised of paired somatic disease-germline comparator exome analysis, RNA sequencing, and tumor classification by DNA methylati

SUBMITTER: Shatara M 

PROVIDER: S-EPMC11412961 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature