Table 1.
Clinical, genetic and epigenetic details of the cohort
| Reference case | Age at diagnosis (y), sex | Tumor location | Somatic TP53 pathogenic variation (NM_000546.5) | Methylation-based classification (calibrated score) v12.5 | Germline TP53 status | Status at the end of follow-up, OS (y) |
|---|---|---|---|---|---|---|
| 1 | 4.3, F | Pons | c.469G>T; p.(Val157Phe), Exon 5 | Diffuse paediatric-type HGG, MYCN subtype (0.99) | Mutated: c.469G>T; p.(Val157Phe), Exon 5 | Dead (0.4) |
| 2 | 5.2, M | Multifocal (cerebellum. mesencephalic. bulbar and thalamic) | c.742C>G; p.(Arg248Gly), Exon 07 | Diffuse paediatric-type HGG, MYCN subtype (0.90) | Mutated: c.742C>G; p.(Arg248Gly), Exon 07 | Dead (1) |
| 3 | 3.4, M | Left fronto-parietal lobe | c.701A>G; p.(Tyr234Cys), Exon 07 | Diffuse paediatric-type HGG, MYCN subtype (0.99) | Mutated: c.701A>G; p.(Tyr234Cys), Exon 07 | Dead (1.7) |
| 4 | 3.3, M | Left frontal lobe | c.731G>A; p.(Gly244Asp), Exon 07 | Diffuse paediatric-type HGG, MYCN subtype (0.99) | Mutated; c.731G>A, p.(Gly244Asp) | Dead (1.5) |
| 5 | 4.5, M | Left thalamus | c. 743G>A; p.(Arg248Gln), Exon 07 | Diffuse paediatric-type HGG, MYCN subtype (0.99) | WT | Dead (0.3) |
| 6 | 7.6, F | Pons | c.817C>T; p.(Arg273Cys), Exon 8 | Diffuse paediatric-type HGG, MYCN subtype (0.20) | WT | Dead (0) |
| 7 | 3.2, F | Right thalamus | c.853G>A; p.(Glu285Lys), Exon 08 | Diffuse paediatric-type HGG, H3 wildtype and IDH WT, Subtype A (0.99) | WT | Dead (0.7) |
| 8 | 3.1, M | Pons | c.916C>T; (p.Arg306Ter), Exon 8 c.632C>T; p.(Thr211Ile), Exon 6 | NA | WT | Dead (0.5) |
| 9 | 1.3, F | Pons | c.524G>A; p.(Arg175His), Exon 08 | NA | WT | Dead (0.2) |
| 10 | 2.8, F | Pons | c.742C>T; p.(Arg248Trp), Exon 7 | NA | WT | Dead (NA) |
| 11 | 4.4, M | Pons | c.844C>A; p.(Arg282Trp), Exon 8 | NA | WT | Dead (0.7) |
F female, HGG high-grade glioma, M male, NA not available, OS overall survival, WT wildtype, y years-old