Table 1.
Platform information and clinical and biological characteristics of NB patients within the four cohorts used in the study.
| Platform | RNA-seq498 (n = 498) | Affymetrix413 (n = 413) | Agilent709 (n = 709) | Agilent262 (n = 262) |
|---|---|---|---|---|
| Name | Illumina HiSeq 2000 RNASeq | Affymetrix HG-U133 plus 2.0 | Agilent 44 K oligonucleotide array | Agilent 44 K oligonucleotide array |
| Probe set Annotation | RefSeq | Proprietary | Proprietary | Proprietary |
| Number of Probe Sets | 43,827 | 40,352 | 43,290 | 43,290 |
| Patients’ Characteristics | ||||
| Age at Diagnosis | ||||
| <18 months | 300 (60.2%) | 201 (48.6%) | 431 (60.7%) | 146 (55.8%) |
| ≥18 months | 198 (39.8%) | 160 (38.7%) | 276 (39.3%) | 116 (44.2%) |
| na | 0 (0%) | 52 (12.7%) | 0 (0%) | 0 (0%) |
| INSS Stage | ||||
| 1 | 121 (24.3%) | 88 (21.3%) | 158 (22.2%) | 30 (11.5%) |
| 2 | 78 (15.7%) | 56 (13.5%) | 116 (16.3%) | 37 (14.1%) |
| 3 | 63 (12.7%) | 63 (15.2%) | 92 (12.9%) | 33 (12.6%) |
| 4 | 183 (36.7%) | 153 (37%) | 259 (36.0%) | 130 (49.6%) |
| 4s | 53 (10.6%) | 44 (10.6%) | 80 (11.2%) | 32 (12.2%) |
| na | 0 (0%) | 9 (2.4%) | 4 (1.4%) | 0 (0%) |
| MYCN Status | ||||
| normal | 401 (80.5%) | 329 (79.6%) | 581 (80.5%) | 191 (72.9%) |
| amplified | 92 (18.5%) | 76 (18.4%) | 122 (18.5%) | 70 (26.7%) |
| na | 5 (1.0%) | 8 (2%) | 6 (1.0%) | 1 (0.4%) |
| Event Overall | ||||
| no | 393 (78.9%) | 282 (68.3%) | 548 (77.3%) | 202 (77.1%) |
| yes | 105 (21.1%) | 81 (19.6%) | 161 (22.7%) | 60 (22.9%) |
| na | 0 (0%) | 50 (12.1%) | 0 (0%) | 0 (0%) |
| Event-free | ||||
| no | 315 (63.2%) | 216 (52.3%) | 439 (60.3%) | 148 (56.5%) |
| yes | 183 (36.8%) | 96 (23.2%) | 249 (36.8%) | 114 (43.5%) |
| na | 0 (0%) | 101 (24.5%) | 21 (2.9%) | 0 (0%) |
| Follow-up Duration (Years) | 5.4 (3.0–8.6) | 2.1 (0.9–4.6) | 5.6 (3.0–8.7) | na |
| Telomere Maintenance | ||||
| no | 0 (0%) | 0 (0%) | 0 (0%) | 99 (37.7%) |
| yes | 0 (0%) | 0 (0%) | 0 (0%) | 109 (41.6%) |
| na | 262 (100%) | 262 (100%) | 262 (100%) | 54 (20.7%) |
| ALT | ||||
| no | 0 (0%) | 0 (0%) | 0 (0%) | 177 (67.5%) |
| yes | 0 (0%) | 0 (0%) | 0 (0%) | 31 (11.8%) |
| na | 262 (100%) | 262 (100%) | 262 (100%) | 54 (20.7%) |
| Documented Regression | ||||
| no | 0 (0%) | 0 (0%) | 0 (0%) | 190 (72.5%) |
| yes | 0 (0%) | 0 (0%) | 0 (0%) | 18 (6.8%) |
| na | 262 (100%) | 262 (100%) | 262 (100%) | 54 (20.7%) |
| TERT Rearrangements | ||||
| no | 0 (0%) | 0 (0%) | 0 (0%) | 231 (88.1%) |
| yes | 0 (0%) | 0 (0%) | 0 (0%) | 31 (11.9%) |
| na | 262 (100%) | 262 (100%) | 262 (100%) | |
| ATRX Mutation | ||||
| - | 0 (0%) | 0 (0%) | 0 (0%) | 75 (28.7%) |
| Deletion | 0 (0%) | 0 (0%) | 0 (0%) | 7 (2.8%) |
| Non sense | 0 (0%) | 0 (0%) | 0 (0%) | 1 (0.1%) |
| na | 262 (100%) | 262 (100%) | 262 (100%) | 179 (68.4%) |
| RAS Mutations | ||||
| no | 0 (0%) | 0 (0%) | 0 (0%) | 5 (1.9%) |
| yes | 0 (0%) | 0 (0%) | 0 (0%) | 43 (16.4%) |
| na | 262 (100%) | 262 (100%) | 262 (100%) | 214 (81.7%) |
| RAS Mutations | ||||
| no | 0 (0%) | 0 (0%) | 0 (0%) | 36 (13.7%) |
| yes | 0 (0%) | 0 (0%) | 0 (0%) | 12 (4.6%) |
| na | 262 (100%) | 262 (100%) | 262 (100%) | 214 (81.7%) |
Data are relative to the patients within the four datasets RNA-seq498, Affymetrix413, Agilent498, and Agilent262 used in the study. In each subdivision, data show the total number of patients and the relative percentage within brackets. na indicates not available. NB: neuroblastoma. INSS: International Neuroblastoma Staging System. ALT: Alternative lengthening of telomere.