From Classical to Emerging Biomarkers of Brain and Central Nervous System Tumors. An Evidence-Based Review with a Focus on Gliomas.
AI interpretation is pending for this paper.
Open original publication →What the AI sees
Not AI summarized yet.
Research significance
Pending deeper interpretation.
Source abstract
Gliomas, including astrocytoma, oligodendrogliomas, and glioblastomas, represent the most common type of primary malignant brain tumors in adults and a significant burden in pediatric neuro-oncology. Despite being traditionally diagnosed according to histopathological features, the classification of gliomas has evolved significantly with the integration of molecular biomarkers, now essential components of the World Health Organization Central Nervous System 5 (WHO CNS5) classification. This review synthesizes key established and emerging molecular markers that define glioma subtypes and impact diagnosis, prognosis, and therapeutic decisions. Core biomarkers include IDH1/2 mutations, which are hallmarks of lower-grade gliomas and confer improved prognosis; 1p/19q codeletion, pathognomonic for oligodendrogliomas; and TERT promoter mutations, often associated with poor outcomes. Additional markers such as TP53, ATRX, and H3K27M mutations provide crucial subtype and grade-specific information, particularly in astrocytic and diffuse midline gliomas. Novel alterations, including BRAF V600E, EGFRvIII, and MET, NTRK, or ALK gene fusions, are increasingly recognized for their therapeutic relevance in targeted treatment approaches. Epigenetic profiling, including DNA methylation signatures, has further refined glioma taxonomy and classification. Emerging markers such as MYCN/MYC amplifications, PIK3CA/PTEN pathway alterations, and ZFTA::RELA fusions, although more prominent in other CNS tumors, may offer insights into tumor biology or therapeutic resistance in gliomas. This review provides an updated evidence-based overview of classical and novel biomarkers, highlighting their biological roles and clinical implications, and guiding future directions for precision neuro-oncology.