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 |
CNV: copy number variation; EPN: ependymoma; F: female; GTR: Gross total resection; M: male; NA: not available; ND: not detailed; PFA: posterior fossa group A; WHO: World Health Organization
*All cases presented high-grade features