Adult-type diffuse gliomas
- Astrocytoma, IDH-mutant
- Oligodendroglioma, IDH-mutant, and 1p/19q-codeleted
- Glioblastoma, IDH-wildtype
Pediatric-type diffuse low-grade gliomas
- Diffuse astrocytoma, MYB- or MYBL1-altered
- Angiocentric glioma
- Polymorphous low-grade neuroepithelial tumor of the young
- Diffuse low-grade glioma, MAPK pathway-altered
Pediatric-type diffuse high-grade gliomas
- Diffuse midline glioma, H3 K27-altered
- Diffuse midline glioma is now designated as “H3 K27altered” rather than “H3 K27M-mutant” in order to recognize alternative mechanisms by which the pathogenic pathway can be altered in these tumors
- Diffuse hemispheric glioma, H3 G34-mutant
- Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
- Infant-type hemispheric glioma
Circumscribed astrocytic gliomas: “circumscribed” referring to their more solid growth pattern, as opposed to the inherently “diffuse” tumors in the above 3 adult and paediatric groups
- Pilocytic astrocytoma
- High-grade astrocytoma with piloid features
- Pleomorphic xanthoastrocytoma
- Subependymal giant cell astrocytoma
- Chordoid glioma
- Astroblastoma, MN1-altered
Glioneuronal and neuronal tumors: a diverse group of tumors, featuring neuronal differentiation
- Ganglioglioma
- Desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma
- Dysembryoplastic neuroepithelial tumor
- Diffuse glioneuronal tumor with oligodendroglioma-like features and nuclear clusters
- Papillary glioneuronal tumor
- Rosette-forming glioneuronal tumor
- Myxoid glioneuronal tumor
- Diffuse leptomeningeal glioneuronal tumor
- Gangliocytoma
- Multinodular and vacuolating neuronal tumor
- Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease)
- Central neurocytoma
- Extraventricular neurocytoma
- Cerebellar liponeurocytoma
Ependymal tumors
- Supratentorial ependymoma
- Supratentorial ependymoma, ZFTA fusion-positive
- Supratentorial ependymoma, YAP1 fusion-positive
- Posterior fossa ependymoma
- Posterior fossa ependymoma, group PFA
- Posterior fossa ependymoma, group PFB
- Spinal ependymoma
- Spinal ependymoma, MYCN-amplified
- Myxopapillary ependymoma
- Subependymoma
Molecular marker | Clinical significance |
ATRX mutation Alpha-thalassemia/mental retardation syndrome X | - Common in astrocytoma, IDH-mutant (not in oligodendroglioma) and diffuse hemispheric glioma, H3 G34–mutant |
BRAF V600 mutation | - Frequently present in pleomorphic xanthoastrocytoma, also in ganglioglioma and epithelioid glioblastoma |
CDKN2A/B homozygous deletion Cyclin-dependent kinase inhibitor 2A/B | - Present in astrocytoma, IDH-mutant indicates poor prognosis |
EGFR gene amplification Epidermal growth factor receptor | - Common in glioblastoma, IDH-wildtype CNS WHO grade 4 - If present in astrocytoma, IDH-wildtype CNS WHO grades 2 or 3, it is consistent with glioblastoma, IDH-wildtype CNS WHO grade 4 |
EGFR-mutations | - Most common is EGFRvIII, frequently present in glioblastoma, IDH-wildtype CNS WHO grade 4 |
H3 G34 mutation Histone H3 3 G34 | - Present in hemispheric diffuse glioma, IDH-wildtype, predominantly in children and young adults, poor prognosis |
H3 K27M mutation Histone H3 K27M | - One of the criteria of diffuse midline glioma, H3 K27M altered - May occur in other gliomas not located in the midline (pilocytic astrocytoma and ependymoma) |
IDH1/2 Isocitrate dehydrogenase | - Frequently mutated in diffuse gliomas (astrocytomas and oligodendrogliomas) and is associated with better prognosis than IDH-wildtype gliomas |
KIAA1549-BRAF gene fusion | - Frequently found in pilocytic astrocytoma, also in diffuse leptomeningeal glioneuronal tumour, pilomyxoid astrocytoma and ganglioglioma |
MAPK Mitogen-activated protein kinase pathway | - Alterations typical for paediatric-type diffuse low-grade gliomas |
MGMT promotor methylation O6-methylguanine DNA methyltransferase | - DNA repair enzyme, methylation predicts good response to alkylating agents such as temozolomide in glioblastoma, IDH-wildtype |
MYB- or MYBL1-altered | - Alterations typical for a paediatric low-grade glioma |
TERTp mutation Telomerase reverse transcriptase promotor | - Present in most oligodendroglioma - If present in diffuse astrocytoma, IDH-wildtype CNS WHO grades 2 and 3 (i.e. without the histopathological hallmarks of glioblastoma (necrosis and/or microvascular proliferation)), it is consistent with glioblastoma IDH-wildtype CNS WHO grade 4 |
TP53 mutation | - Present in most astrocytoma IDH-mutant, rare in oligodendrogliomas |
YAP1 fusions Yes-associated protein 1 | - Present in some supratentorial ependymomas, especially in paediatric tumours |
ZFTA fusions Zinc finger translocation associated | - Present in some supratentorial ependymomas (ZFTA: previously named RELA fusions) |
Gain of chromosome 7/loss of chromosome 10 (+7/−10) | - Common in glioblastoma IDH-wildtype CNS WHO grade 4 |
Loss of chromosome 1p and 19q (loss of heterozygosity) (1p/19q codeletion) | - Prerequisite for the diagnosis of oligodendroglioma |
New proposed staging for Neuroepithelial tumours
- Gradual neuroepithelial de-differentiation and declining prognosis follow
- An expansion into higher order radial units
- A subventricular spread;
- The presence of mesenchymal patterns (expansion along white matter tracts, leptomeningeal or perivascular invasion, CSF spread)
- Using neuroembryology to define staging
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