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

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. 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 methylation analysis was performed. Through the implementation of paired analysis, this study identified 4 of 314 (1.3%) individuals who harbored a germline Comparative pathologic findings are presented to enable an in-depth examination of disease characteristics. This comprehensive analysis highlights the association of gliomas and glioneuronal tumors with RASopathies and the potential therapeutic challenges and importantly demonstrates the utility of genomic profiling for the identification of germline cancer predisposition.

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Copyright © 2024 Shatara, Schieffer, Melas, Varga, Thomas, Bucknor, Costello, Wheeler, Kelly, Miller, Rodriguez, Mathew, Lee, Crotty, Leary, Paulson, Cole, Abdelbaki, Finlay, Lazow, Salloum, Fouladi, Boué, Mardis and Cottrell.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.