Understanding the molecular profiling of diffuse gliomas classification: A brief overview

Area of Science:

• Neuro-oncology
• Molecular Pathology
• Genetics

Background:

• Gliomas are the most common malignant primary brain tumors, comprising 80% of cases.
• Recent decades have seen significant advancements in understanding glioma molecular origins and development.
• Molecular markers offer crucial information beyond traditional histology for glioma classification.

Purpose of the Study:

• To review essential molecular markers for adult diffuse gliomas.
• To highlight the importance of molecular profiling in glioma classification and patient management.
• To align with the latest World Health Organization (WHO) CNS classification criteria.

Main Methods:

• A narrative literature review was conducted.
• Included studies focused on molecular markers for adult diffuse gliomas.
• The review considered markers relevant to the WHO CNS 5 classification.

Main Results:

• The 2021 WHO classification integrates molecular aspects and hallmarks of cancer.
• Mandatory molecular profiling is essential for determining clinical outcomes in diffuse gliomas.
• Key markers include IDH mutations, 1p/19q codeletion, CDKNA/B deletion, TERT promoter mutation, ATRX loss, EGFR amplification, and TP53 mutation.
• These markers differentiate glioma subtypes, including molecular Grade 4 gliomas, impacting prognosis and potential therapies.

Conclusions:

• Understanding molecular pathogenesis is paramount for improving glioma treatment benefits.
• Molecular profiling aids in clinical decision-making alongside radiological and surgical techniques.
• This review provides a straightforward description of key molecular pathogenesis aspects in diffuse gliomas.