[Diagnostic challenges of pediatric gliomas; the role of molecular profiling in everyday diagnostics]

Abstract

Aim: This study aims to evaluate the diagnostic challenges and molecular aspects of pediatric gliomas, among the most common brain tumors in children, focusing on improving early detection and personalized treatment strategies.

Methods: We conducted a comprehensive review of recent literature, examining current diagnostic techniques, including imaging and histopathological analysis, alongside molecular profiling methods such as next-generation sequencing (NGS) and methylation profiling.

Results: The findings highlight significant diagnostic challenges due to the heterogeneity of pediatric gliomas. Molecular profiling has proven essential in identifying key genetic alterations, such as those in the H3F3A and MAPK pathway genes, offering insights into tumor behavior and therapeutic targets.

Conclusions: Early and accurate diagnosis of pediatric gliomas is hampered by their molecular diversity. Integrating molecular diagnostics with traditional methods is crucial for enhancing diagnostic accuracy and guiding personalized treatment approaches.