Pediatric Low-Grade Glioma RNA and Targeted Sequencing

Study ID Alternative Stable ID Type
EGAS00001004242 Other

Study Description

Pediatric low-grade gliomas (pLGG) are frequently driven by genetic alterations in the RAS/MAPK pathway yet show unexplained variability in their clinical outcome. To address this, we characterized a cohort of >1,000 clinically annotated pLGG. 84% of cases harbored a driver alteration, while those without an identified alteration also often exhibited up-regulation of the RAS/MAPK pathway. pLGG could be broadly classified based on their alteration type. Rearrangement-driven tumors were diagnosed at a younger age, enriched for WHO grade I histology, infrequently progressed, and rarely resulted in death as compared to SNV-driven tumors. Further sub-classification of clinical-molecular correlates stratified pLGG into risk categories. These data highlight the biological and clinical differences between pLGG subtypes and opens avenues for future treatment refinement.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
Whole transcriptome and targeted dna sequencing (Ampliseq) of pediatric low-grade glioma samples at the Hospital for Sick Children
Illumina HiSeq 2500,Illumina MiSeq 101

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