AI Article Synopsis
- Recent research has significantly improved our knowledge of the genetic factors driving pediatric low-grade glioma (PLGG), mainly focusing on the RAS/MAPK pathway.
- Key genetic alterations, especially in genes like BRAF, FGFR1, and NF1, play crucial roles in these tumors, with additional mutations in tumor suppressor genes potentially leading to more aggressive forms.
- Comprehensive genetic profiling, including sequencing and copy number analysis, is essential for accurate diagnosis and treatment planning for PLGG.
Article Abstract
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.
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| http://dx.doi.org/10.1007/s00381-024-06639-7 | DOI Listing |
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