- Summary of clinical and molecular characteristics of studied cases.
| No. | Age (Y) | Sex | Site | PD | NGS | AF | MC V12.5 | MC V12.8 | Final diagnosis |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 1.7 | M | OP | PA | BRAF V600E | 0.29 | PA-M (0.99) | PA-M (0.99) | PA |
| 2 | 7 | F | Ce | PA | BRAF A598_T599insV | 0.31 | PA-I (0.99) | PA-I (0.99) | PA |
| 3 | 17 | M | TL | PA | BRAF V600Dfs*47 | 0.08 | PA-H (0.89) | PA-H (0.79) | PA |
| 4 | 11 | M | FL;PL | PA | BRAF V600E | 0.19 | PA-H (0.93) | PA-H (0.96) | PA |
| 5 | 12 | F | OP | PA | BRAF V600E | 0.13 | PA-M (0.99) | PA-M (0.99) | PA |
| 6 | 15 | M | Ce | PA | BRAF L410Q | 0.22 | PA-I (0.99) | PA-I (0.99) | PA |
| 7 | 1.6 | M | TL | PA | BRAF V600E | 0.28 | PA-H (0.98) | PA-H (0.81) | PA |
| 8 | 15 | M | OP | PA | BRAF V600E | 0.15 | PA-M (0.99) | PA-M (0.99) | PA |
| 9 | 15 | M | Ce | PA | BRAF T599dup, Ad1 | 0.48 | PA-I (0.89) | PA-M (0.59) | PA |
| 10 | 1.2 | M | OP | PA | BRAF V600E | 0.2 | PA-M (0.99) | PA-M (0.98) | PA |
| 11 | 14 | F | BS | PA-R | BRAF T599dup | 0.59 | PA-I (0.98) | PA-I (0.90) | PA |
| 12 | 16 | M | TL | PA | BRAF V600E | 0.26 | PA-H (0.94) | PA-H (0.98) | PA |
| 13 | 14 | F | TL | GG | BRAF V600E | 0.24 | GG (0.99) | GG (0.99) | GG |
| 14 | 0.75 | F | TL | GG | BRAF V600E | 0.18 | GG (0.94) | GG (0.98) | GG |
| 15 | 2 | M | TL | GG | BRAF V600E | 0.18 | GG (0.75) | GG (0.85) | GG |
| 16 | 3 | M | TL | GG | BRAF V600E | 0.41 | GG (0.99) | GG (0.99) | GG |
| 17 | 14 | F | TL | PXA | BRAF V600E | 0.36 | PXA (0.99) | PXA (0.99) | PXA |
| 18 | 13 | M | TL | PXA | BRAF V600E | 0.48 | PXA (0.99) | PXA (0.99) | PXA |
| 19 | 9 | F | FL | PXA | BRAF V600E | 0.51 | PXA (0.99) | PXA (0.99) | PXA |
| 20 | 14 | F | FL | PXA | BRAF V600E | 0.29 | PXA (0.99) | PXA (0.99) | PXA |
| 21 | 14 | M | TL | PXA | BRAF V600E | 0.41 | PXA (0.99) | PXA (0.99) | PXA |
| 22 | 10 | M | PL | PXA | BRAF V600E | 0.3 | PXA (0.99) | PXA (0.99) | PXA |
| 23 | 12.3 | F | TL | As- Inf | BRAF V600E | 0.3 | GG (0.50) | GG (0.80) | LG GNT vs As |
| 23 | 16.3 | F | Hip | PXA | BRAF V600E | 0.24 | PXA (0.99) | PXA (0.99) | PXA |
| 24 | 3.6 | F | SC | PA | BRAF V600E | 0.49 | DLGNT-1 (0.99) | DLGNT-1 (0.99) | DLGNT |
| 25 | 13.9 | F | TL | GG | BRAF V600E | 0.69 | PLNTY (0.73) | PLNTY (0.48) | PLNTY |
| 26 | 18 | M | TL | GG | BRAF V600E | 0.12 | PA-H (0.83) | PA-H (0.97) | GG |
| 27 | 19 | F | OL;TL | GG | BRAF V600E | 0.19 | PA-H (0.94) | PA-H (0.81) | GG |
| 28 | 10 | M | TL | GG | BRAF V600E | 0.14 | PA-H (0.82) | GG (0.32) | GG |
| 29 | 3 | M | TL | GG | BRAF V600E | 0.38 | PA-H (0.99) | PA-H (0.99) | GG |
| 30 | 15 | F | TL | GG | BRAF V600E | 0.19 | PA-H (0.85) | PA-H (0.99) | GG |
| 31 | 3 | M | Ce | GG | BRAF V600E | 0.29 | PA-I (0.99) | PA-I (0.95) | GG |
| 32 | 0.25 | F | OP | DIA | BRAF V600E | 0.28 | PA-M (0.99) | PA-M (0.99) | DIA vs PA |
| 33 | 6 | M | OP | DIG | BRAF V600E | 0.34 | PA-M (0.99) | PA-M (0.99) | PA vs DIG |
| 34 | 9 | F | PL;TL | HG As | BRAF V600E | 0.46 | PXA (0.99) | PXA (0.99) | pHGG, NEC |
| 35 | 2 | M | TL | HG As | BRAF V600E | 0.89 | PXA (0.99) | PXA (0.98) | pHGG, NEC |
| 36 | 11 | F | TL | GG | BRAF V600E | 0.07 | C-RM (0.56) | C-IM (0.43) | GG |
| 37 | 14 | M | FL | GG | BRAF T599dup IF ins | 0.24 | C-RM (0.64) | C-RM (0.46) | GG |
| 38 | 4 | M | BS | GG | BRAF V600E | 0.15 | C-RM (0.38) | C-RM (0.44) | GG |
| 39 | 4 | F | FL | GG | BRAF V600E, Ad2 | 0.09 | C-RM (0.74) | C-RM (0.54) | GG |
| 40 | 2 | M | TL | GG | BRAF V600E | 0.18 | PA-H (0.45) | PA-H (0.57) | GG |
| 41 | 16 | M | TL | GG | BRAF V600E | 0.08 | C-RM (0.98) | C-RM (0.86) | GG |
| 42 | 20 | F | BS | LG As | BRAF V600E | 0.11 | C-RM (0.98) | C-RM (0.96) | LG As |
| 43 | 11 | F | PL;TL | PA/PMA | BRAF V600E | 0.16 | C-RM (0.99) | C-RM (0.97) | PA/PMA |
| 44 | 9 | M | TL | HG As, NEC | BRAF V600E, Ad3 | 0.53 | pHGG, RTK1 (0.38) | DPHGG, RTK1 (0.47) | pHGG, NEC |
| 45 | 11 | F | Th | DMG, K27M | BRAF V600E, Ad4 | 0.16 | G-IDHw-M (0.43) | C-IM (0.88) | DMG, K27M |
| 46 | 13 | F | PL | LG G/GN | BRAF V600E | 0.33 | GG (0.52) | PA-H (0.24) | GG |
| 47 | 11 | F | OL;TL | LG G/GN | BRAF V600E | 0.26 | PXA (0.52) | PXA (0.36) | PXA |
Ad: additional mutations [Ad1: P53 X307_splice and CDH1 X177_splice; Ad2: NF1 C1792*; Ad3: TP53 R248L; Ad4: H3F3A K28M, TERT promotor mutation (not specified)]. AF: allelic frequency; BS: brainstem; C-IM: control tissue, inflammatory microenvironment; C-RM: control tissue, reactive tumor microenvironment; Ce: cerebellum; DLGNT-1: diffuse leptomeningeal glioneuronal tumor, subtype 1; F: female; FL: frontal lobe; G-IDHw-M: glioblastoma, IDH-wildtype, mesenchymal type; Hip: hippocampus; LV: lateral ventricle; M: male; ND: not done; NEC: not elsewhere classified; OL: occipital lobe; OP: optic pathway; PA-H: pilocytic astrocytoma, hemispheric; PA-I: pilocytic astrocytoma, infratentorial; PA-M: pilocytic astrocytoma, midline; pHGG: diffuse pediatric-type high-grade glioma; PL: parietal lobe; PLNTY: polymorphous low-grade neuroepithelial tumor of the young; PXA: pleomorphic xanthoastrocytoma; SC: spinal cord; Th: thalamus; TL: temporal lobe; Y: years