Molecular markers in Gliomas: A practical review and algorithm proposal

Abstract

Gliomas, a diverse group of glial cell malignancies, are notorious for their invasive nature and represent a significant portion of central nervous system (CNS) tumors. Glioblastoma, the most prevalent and aggressive primary malignant brain tumor, stands out for its poor prognosis and represents a substantial burden in neuro-oncology. In children and adolescents, gliomas are also the most common CNS tumors, reflecting their impact across all age groups. While the majority of gliomas arise sporadically, certain familial tumor syndromes, such as Turcot syndrome, Li-Fraumeni syndrome, and neurofibromatosis, have been linked to their development.

The classification of CNS tumors has undergone significant transformation, culminating in the recent WHO CNS5 edition. This latest classification integrates cutting-edge histological and molecular techniques, offering a deeper understanding of tumor biology and enabling more accurate diagnoses. By incorporating molecular profiling and genomic analysis, the CNS5 classification surpasses traditional methods, providing a robust framework for tailoring therapeutic strategies.

Currently, gliomas are categorized within a broader group that includes gliomas, glioneuronal tumors, and neuronal tumors, with further subdivisions into adult-type diffuse gliomas, pediatric high-grade diffuse gliomas, pediatric low-grade diffuse gliomas, and circumscribed astrocytic gliomas. This article provides a practical review of the WHO CNS5 updates, with a focus on the most relevant molecular biomarkers for diagnosing gliomas in both adult and pediatric populations. Additionally, we propose a molecular diagnostic algorithm designed to enhance clinical decision-making and improve patient outcomes.