Table 1. Clinical, pathological and molecular features of medulloblastoma cohorts.
M−, M0-1; M+, M2-4; CLA, classic; DN, desmoplastic / nodular; LCA, large-cell anaplastic; RTX, radiotherapy; CTX, chemotherapy. The single tumor with extensive nodular (MBEN) pathology was included in the DN group. Percentages shown are based on patients with available data. NA, data not available; NC, non-classifiable.
| Demographic | Cohort |
|||
|---|---|---|---|---|
| Training (n=100) | Test (n=130) | Combined survival (n=191) | ||
|
| ||||
| Tissue type | Frozen | 94 (94% ) | 0 (0%) | 55 (29%) |
| FFPE | 6 (6%) | 130 (100%) | 136 (71%) | |
|
| ||||
| Gender | Male (M) | 62 (62%) | 78 (60%) | 113 (59%) |
| Female (F) | 38 (38%) | 52 (40%) | 78 (41%) | |
| M:F ratio | 1.6:1 | 1.5:1 | 1.4:1 | |
|
| ||||
| Age at diagnosis (years) | Median (range) | 7.9 (0.1 – 43.0) | 8.4 (3.1 – 15.6) | 8.5 (3.1 – 15.8) |
|
| ||||
| < 3 years | 15 (15%) | 0 (0%) | 0 (0%) | |
| ≥ 3 years | 85 (85%) | 130 (100%) | 191 (100%) | |
|
| ||||
| Pathology variant | CLA | 72 (72%) | 110 (85%) | 157 (82%) |
| DN | 18 (18%) | 9 (7%) | 16 (8%) | |
| LCA | 10 (10%) | 11 (8%) | 18 (9%) | |
|
| ||||
| Metastatic stage | M− | 75 (81%) | 105 (81%) | 154 (81%) |
| M+ | 18 (19%) | 25 (19%) | 37 (19%) | |
| NA | 7 | 0 | 0 | |
|
| ||||
| Treatment | RTX-alone | 8 (11%) | 63 (48%) | 68 (36%) |
| RTX + CTX | 65 (89%) | 67 (52%) | 121 (64%) | |
| NA | 27 | 0 | 2 | |
|
| ||||
| Follow-up (surviving patients (years)) | Median (range) | 5.0 (0.1 – 15.5) | 10.1 (0.1 – 14.9) | 8.9 (0.1 – 14.9) |
|
| ||||
| CTNNB1 | No mutation | 87 (90%) | 118 (93%) | 168 (90%) |
| Mutation | 10 (10%) | 9 (7%) | 18 (10%) | |
| NA | 3 | 3 | 5 | |
|
| ||||
| Chromosome 6 | No loss | 89 (89%) | 121 (94%) | 172 (91%) |
| Loss | 11 (11%) | 8 (6%) | 18 (9%) | |
| NA | 0 | 1 | 1 | |
|
| ||||
| Chromosome 17p | No loss | 25 (74%) | 102 (79%) | 121 (78%) |
| Loss | 9 (26%) | 27 (21%) | 35 (22%) | |
| NA | 66 | 1 | 35 | |
|
| ||||
| MYC | No amplification | 82 (98%) | 128 (98%) | 187 (98%) |
| Amplification | 2 (2%) | 2 (2%) | 4 (2%) | |
| NA | 23 | 0 | 0 | |
|
| ||||
| MYCN | No amplification | 80 (95%) | 125 (96%) | 184 (96%) |
| Amplification | 4 (5%) | 5 (4%) | 7 (4%) | |
| NA | 23 | 0 | 0 | |
|
| ||||
| Expression subgroup | GeXP mRNA signature: | |||
| WNT | 6 (7%) | 0 (0%) | 5 (10%) | |
| SHH | 19 (22%) | 0 (0%) | 7 (14%) | |
| WNT/SHH-independent | 63 (72%) | 0 (0%) | 39 (76%) | |
| NA | 12 | 130 | 140 | |
|
| ||||
| Nanostring mRNA signature: | ||||
| WNT | 5 (8%) | 0 (0%) | 4 (13%) | |
| SHH | 19 (32%) | 0 (0%) | 8 (25%) | |
| Group 3 | 12 (20%) | 0 (0%) | 6 (19%) | |
| Group4 | 24 (40%) | 0 (0%) | 14 (44%) | |
| NA | 40 | 130 | 159 | |
|
| ||||
| Immunohistochemistry: | ||||
| WNT | 5 (100%) | 16 (14%) | 21 (18%) | |
| SHH | 0 (0%) | 23 (20%) | 23 (19%) | |
| WNT/SHH-independent | 0 (0%) | 76 (66%) | 74 (63%) | |
| NA | 95 | 15 | 73 | |
|
| ||||
| Methylation subgroup | WNT | 10 (11%) | 18 (15%) | 28 (16%) |
| SHH | 21 (23%) | 29 (24%) | 36 (20%) | |
| G3 | 19 (20%) | 25 (20%) | 36 (20%) | |
| G4 | 43 (46%) | 51 (41%) | 79 (44%) | |
| NC | 7 | 7 | 12 | |