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Journal Article
Molecular markers for pediatric low-grade glioma
2024
Overview
Over the past decade, our understanding of the molecular drivers of pediatric low-grade glioma (PLGG) has expanded dramatically. These tumors are predominantly driven by RAS/MAPK pathway activating alterations (fusions and point mutations), most frequently in
BRAF, FGFR1
, and
NF1.
Furthermore, additional second hits in tumor suppressor genes (
TP53, ATRX, CDKN2A
) can portend more aggressive behaviour. Accordingly, comprehensive molecular profiling—specifically genetic sequencing, often plus copy number profiling—has become critical for guiding the diagnosis and management of PLGG. In this review, we discuss the most important genetic alterations that inform on classification and prognosis of PLGG, highlighting their diagnostic and therapeutic relevance.
Publisher
Springer Berlin Heidelberg,Springer Nature B.V
