Table 1 Summary of clinicopathological features of the PFA_EPN, H3K27M-mutant including cases from the literature
Author Reference | Age (years)/Sex | WHO Grade | Mutation | 1q gain/6q loss (CNV) | Methylation class (calibrated score) | Integrated diagnosis | Resection | Adjuvant therapy | Outcome | |
|---|---|---|---|---|---|---|---|---|---|---|
1 | Current study | 5/M | ND* | HIST1H3B | Absent/absent | PFA-EPN 1f (0.99) | PFA-EPN | GTR | Radiotherapy | Spinal relapse at 16 months Death at 50 months |
2 | 5/F | ND* | NA | Absent/present | PFA-EPN 1f (0.99) | PFA-EPN | Subtotal resection | Radiotherapy | Spinal relapse at 6 months Alive at 50 months | |
3 | 10/F | ND* | HIST1H3C | Absent/absent | PFA-EPN 1a (0.23) | PFA-EPN | GTR | Radiotherapy | Spinal relapse at 107 months Alive at 130 months | |
4 | 12/M | ND* | HIST1H3B | Absent/absent | PFA-EPN 1f (0.95) | PFA-EPN | GTR | Radiotherapy | Relapse-free Alive at 101 months | |
5 | 9/F | ND* | HIST1H3C | Present/absent | PFA-EPN 1f (0.99) | PFA-EPN | Subtotal resection | Radiotherapy | Relapse at 79 months Alive at 82 months | |
7 | 8/M | ND* | HIST1H3D | Absent/absent | PFA-EPN 1f (0.99) | PFA-EPN | GTR | Radiotherapy | Alive at 3 months | |
8 | 1.5/M | ND* | H3F3A | Absent/absent | PFA-EPN 1a (0.45) | PFA-EPN | GTR | Radiotherapy Everolimus Avastin | Death at 88 months | |
10 | Gessi [8] | 1.5/F | 3 | H3F3A | NA/NA | PFA-EPN | PFA-EPN | Biopsy | E-HIIT 2000 R | Relapse free Alive at 6 months |
11 | 6/F | 3 | HIST1H3C | NA/NA | PFA-EPN | PFA-EPN | GTR | E-HIIT 2000 AB4 | Spinal relapse at 19 months Alive at 49 months | |
12 | Nambirajan [13] | 2/F | 2 | H3F3A | Absent/NA | NA | NA | GTR | Radiotherapy | Relapse at 3 months Alive at 24 months |
13 | Ryall [17] | 7/M | 3 | H3F3A | Absent/absent | NA | NA | GTR | Radiotherapy | Local relapse at 18 months Death at 24 months |
14 | Tanrikulu [19] | 1.5/M | 3 | NA | NA/NA | NA | NA | GTR | Chemotherapy | Relapse-free Alive at 86 months |
15 | Yao [21] | 2/M | 1 | H3F3A | NA/NA | NA | NA | No GTR | No | Relapse-free Alive at 60 months |
15 | 43/M | 1 | H3F3A | NA/NA | NA | NA | No GTR | No | Relapse and death at 37 months | |
16 | 13/M | 1 | H3F3A | NA/NA | NA | NA | No GTR | No | Relapse-free Alive at 40 months | |
17 | 20/M | 1 | H3F3A | NA/NA | NA | NA | No GTR | No | Relapse-free Alive at 3 months | |
Pajtler [15] | NA | NA | HIST1H3B (n = 4) | NA/NA | Ependymoma 1f (9/13) Ependymoma 1a, 1d, 1e | PFA-EPN | NA | NA | NA | |
HIST1H3C (n = 7) | NA/NA | PFA-EPN | ||||||||
H3F3A (n = 2) | NA/NA | Ependymoma 1a | PFA-EPN |