Table 2 Modernized neuropathological diagnosis based on molecular results
Case | Original diagnosis | Genetic findings | Integrated diagnosis per WHO CNS5 | DNA methylation-based classification |
|---|---|---|---|---|
pTMZ-01 | Infiltrating anaplastic astrocytoma with areas of PNET-like dedifferentiation | H3-3A G34R (p.G35R) | Diffuse hemispheric glioma, H3 G34-mutant, CNS WHO grade 4 | Not available |
pTMZ-02 | Anaplastic oligoastrocytoma | BRAF p.V600E CDKN2A homozygous deletion | Pleomorphic xanthoastrocytoma, CNS WHO grade 3 | PXA |
pTMZ-05 | Anaplastic astrocytoma | H3-3A K27M (p.K28M) EGFR amplification | Diffuse midline glioma, H3 K27-altered, CNS WHO grade 4 | DMG_EGFR |
pTMZ-06 | Anaplastic astrocytoma | IDH and H3 wildtype | Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype, CNS WHO grade 4 | pedHGG_RTK2A |
pTMZ-08 | Atypical mixed glioneuronal neoplasm with aggressive features, arising in a background of papillary glioneuronal tumor | H3-3A K27M (p.K28M) | Diffuse midline glioma, H3 K27-altered, CNS WHO grade 4 | Not available |
pTMZ-09 | Glioblastoma | TP53 p.D48fs*71 BRAF p.V600E CDKN2A homozygous deletion | High-grade astrocytoma, NEC (see text) | No match |
pTMZ-10 | Anaplastic astrocytoma | H3-3A K27M (p.K28M) EGFR exon 20 in-frame insertion | Diffuse midline glioma, H3 K27-altered, CNS WHO grade 4 | DMG_EGFR |