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  • Updated 02.07.2022
  • Expires For CME 02.07.2025

Overview of neuropathology updates for infiltrating gliomas

Introduction

Overview

The most recent edition of the World Health Organization Classification of Tumours of the Central Nervous System (WHO CNS-5), in conjunction with a presentation of histological and immunohistochemical tumor characteristics, features substantial advances in the role of molecular diagnostics in the classification of CNS tumors (25; 19). Updated diagnostic criteria, including the most commonly altered gene and molecular profiles of adult- and pediatric-type diffuse gliomas, are discussed in this article.

Key points

• Glioblastoma is now defined as an infiltrating (diffuse) astrocytic glioma with no mutations in IDH1/2 genes nor histone H3 genes, histologically characterized by microvascular proliferation, necrosis, or molecular features, including TERT promoter mutation, EGFR gene amplification, and +7/-10 chromosome.

IDH-mutant astrocytomas are graded 2-4. IDH-mutant WHO grade 4 was previously referred to as IDH-mutant glioblastoma.

• Homozygous deletion of CDKN2A/B is a molecular signature of WHO grade 4 in IDH-mutant astrocytomas.

• Diffuse hemispheric glioma H3 G34-mutant and diffuse midline glioma H3 K27-altered are distinct gliomas corresponding to WHO grade 4.

• In children and young adults, subtypes of IDH‐wildtype or H3‐wildtype diffuse gliomas have distinct clinical features in the setting of a BRAF V600E mutation, FGFR1 alteration, other MAPK pathway alteration, or an MYB or MYBL1 rearrangement.

• Glioblastoma is no longer used in the setting of a pediatric-type neoplasm.

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