Neurosurgery notes/Tumours/Tumour genetics

Tumour genetics

Summary

Tumor Type
Genes/Molecular Profiles Characteristically Altered
Astrocytoma, IDH-mutant
IDH1, IDH2, ATRX, TP53, CDKN2A/B
Oligodendroglioma, IDH-mutant, and 1p/19q-codeleted
IDH1, IDH2, 1p/19q, TERT promoter, CIC, FUBP1, NOTCH1
Glioblastoma, IDH-wildtype
IDH-wildtype, TERT promoter, chromosomes 7/10, EGFR
Diffuse astrocytoma, MYB- or MYBL1-altered
MYB, MYBL1
Angiocentric glioma
MYB
Polymorphous low-grade neuroepithelial tumor of the young
BRAF, FGFR family
Diffuse low-grade glioma, MAPK pathway-altered
FGFR1, BRAF
Diffuse midline glioma, H3 K27-altered
H3 K27, TP53, ACVR1, PDGFRA, EGFR, EZHIP
Diffuse hemispheric glioma, H3 G34-mutant
H3 G34, TP53, ATRX
Diffuse pediatric-type high-grade glioma, H3-wildtype, and IDH-wildtype
IDH-wildtype, H3-wildtype, PDGFRA, MYCN, EGFR (methylome)
Infant-type hemispheric glioma
NTRK family, ALK, ROS, MET
Pilocytic astrocytoma
KIAA1549-BRAF, BRAF, NF1
High-grade astrocytoma with piloid features
BRAF, NF1, ATRX, CDKN2A/B (methylome)
Pleomorphic xanthoastrocytoma
BRAF, CDKN2A/B
Anaplastic ganglioglioma
BRAF, CDKN2A/B
Choroid glioma
PRKCA
Astroblastoma, MN1-altered
MN1
Ependymoma
BRAF
Dysplastic neuroepithelial tumor
FGFR1
Diffuse glioneuronal tumor with oligodendroglioma-like features and nuclear clusters
Chromosome 14, (methylome)
Papillary glioneuronal tumor
PRKCA
Rosette-forming glioneuronal tumor
FGFR1, PIK3CA, NF1
Myxoid glioneuronal tumor
PDGFRA
Diffuse leptomeningeal glioneuronal tumor
KIAA1549-BRAF fusion, 1p (methylome)
Multinodular and vacuolating neuronal tumor
MAPK pathway
Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease)
PTEN
Extraventricular neurocytoma
FGFR (FGFR1-TACC1 fusion), IDH-wildtype
Supratentorial ependymomas
ZFTA, RELA, YAP1, MAML2
Posterior fossa ependymomas
H3 K27me3, EZHIP (methylome)
Spinal ependymomas
NF2, MYCN
Medulloblastoma, WNT-activated
CTNNB1, APC
Medulloblastoma, SHH-activated
TP53, PTCH1, SUFU, SMO, MYCN, GLI2 (methylome)
Medulloblastoma, non-WNT/non-SHH
MYC, MYCN, PRDM6, KDM6A (methylome)
Atypical teratoid/rhabdoid tumor
SMARCB1 loss, SMARCA4 loss
Embryonal tumor with multilayered rosettes
C19MC, DICER1
CNS neuroblastoma, FOXR2-activated
FOXR2
CNS tumor with BCOR internal tandem duplication
BCOR
Desmoplastic myxoid tumor of the pineal region, SMARCB1-mutant
SMARCB1
Meningiomas
NF2, AKT1, TERT, SMO, PIK3CA; KLF4, SMARCE1
Adamantinomatous craniopharyngioma
CTNNB1
Papillary craniopharyngioma
BRAF