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Abstract <p>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.</p> Graphical Abstract <p>This figure summarizes the sections discussed in this review, highlighting the significance and implications of diverse biomarkers in CNS tumors. Establishing reliable clinical diagnostics based on these biomarkers will not only benefit patients through improved care but also enhance our understanding of brain tumors and their impact on human health and well-being.</p> <p></p>

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From Classical to Emerging Biomarkers of Brain and Central Nervous System Tumors. An Evidence-Based Review with a Focus on Gliomas

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年1月24日

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  • Miguel A. Ortega,
  • Oscar Fraile-Martinez,
  • Diego Liviu Boaru,
  • Diego De León-Oliva,
  • Patricia De Castro-Martinez,
  • Cielo Garcia-Montero,
  • Beatriz García-González,
  • Isabel Pérez-González,
  • Majd N. Michael Alhaddadin,
  • Silvestra Barrena-Blázquez,
  • Laura Lopez-Gonzalez,
  • María del Val Toledo-Lobo,
  • Leonel Pekarek,
  • Raúl Diaz Pedrero,
  • Melchor Alvarez-Mon,
  • David Cobo-Prieto,
  • Miguel A. Saez

摘要

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.

Graphical Abstract

This figure summarizes the sections discussed in this review, highlighting the significance and implications of diverse biomarkers in CNS tumors. Establishing reliable clinical diagnostics based on these biomarkers will not only benefit patients through improved care but also enhance our understanding of brain tumors and their impact on human health and well-being.