Table 2.
Analysis of multiple WT specimens
| ID | Histology | DNA source | Localization | TP53 SNV | IHC | CNV |
|---|---|---|---|---|---|---|
| 3 a | Mixed with nuclear unrest | FFPE | Primary tumour | L194R hom | 1 | |
| 3 b | Necrotic | cryo | Relapse | L194R het | 1 | |
| 3 c | Unknown | FFPE | Relapse | wt | 1 | |
| 23 a | PLNR | FFPE | Right kidney | wt | 0% | |
| 23 b | PLNR | FFPE | Right kidney | wt | ||
| 23 c | Anaplasia | FFPE | Left kidney | 346fs*4 hom | 70% | 1 |
| 23 d | Anaplasia | FFPE | Left kidney | 346fs*4 hom | 40% | |
| 23 e | Anaplasia | FFPE | Left kidney | 346fs*4 het | 60% | |
| 23 f | Anaplasia | FFPE | Left kidney | 346fs*4 hom | 70% | 1 |
| 23 g | Anaplasia | FFPE | Left kidney | 346fs*4 hom | 40% | |
| 23 h | PLNR | FFPE | Left kidney | wt | 2 | |
| 23 i | Necrotic, 2% viable tumour | FFPE | Left kidney | 336fs*4 het | ||
| 23 j | Necrotic, 1% viable tumour | FFPE | Left kidney | 336fs*4 het | 90% | |
| 23 k | Unclear | FFPE | Lymph node | wt | ||
| 23 l | Anaplasia, 5% tumour | FFPE | Left kidney, relapse | 346fs*4 het | 60% | |
| 23 m | Unclear | FFPE | Left kidney, relapse | wt | ||
| 23 n | PLNR | FFPE | Left kidney, relapse | wt | ||
| 23 o | 25% tumour, anaplasia | FFPE | Left kidney, relapse | wt | ||
| 23 p | 2% tumour | FFPE | Left kidney, relapse | 336fs*4 het | 90% | |
| 23 q | PLNR | FFPE | Right kidney, relapse | wt | ||
| 23 r | PLNR | FFPE | Right kidney, relapse | wt | ||
| 23 s | PLNR | FFPE | Right kidney, relapse | wt | ||
| 23 t | PLNR | FFPE | Right kidney, relapse | wt | ||
| 23 u | Anaplasia | FFPE | Lymph node | 336fs*4 hom | 90% | 2 |
| 23 v | Anaplasia | FFPE | Lymph node | 336fs*4 het | 90% | 2 |
| 29 a | Anaplasia | FFPE | R273H hom | |||
| 29 b | Anaplasia | cryo | R273H 80% | 1 | ||
| 34 a | Macrodissected anaplasia | FFPE | R273H hom | 1 | ||
| 34 b | Unknown | cryo | R273H hom | 1 | ||
| 35 a | Macrodissected anaplasia | FFPE | del N131 hom | 1 | ||
| 35 b | Anaplasia | cryo | del N131 hom | 1 | ||
| 35 c | Anaplasia | cryo | del N131 het | 1 | ||
| 35 d | Nuclear unrest | cryo | del N131 het | |||
| 37 a | Macrodissected anaplasia | FFPE | C238R 80% | 1 | ||
| 37 b | Anaplasia | cryo | wt | 1 | ||
| 37 c | Stroma + regression, no anaplasia | cryo | wt | 1% | 2 | |
| 38 a | Macrodissected non‐anaplasia | FFPE | wt | |||
| 38 b | Macrodissected anaplasia | FFPE | R273C hom | |||
| 85 a | Macrodissected anaplasia | FFPE | P278R | 70% | ||
| 85 b | Not done | cryo | P278R het | 2 | ||
| 86 a | Macrodissected anaplasia | FFPE | splice ex9 hom | |||
| 86 b | 100% regression | cryo | splice het 20% | 2 | ||
| 86 c | Anaplasia | cryo | splice het 60% | 2 | ||
| 87 a | Macrodissected anaplasia | FFPE | G245S het | |||
| 87 b | Anaplasia | cryo | G245S hom | 80% | 1 | |
| 87 c | 98% regression, 2% tumour, no anaplasia | cryo | G245S het | 80% | 1 | |
| 88 a | Macrodissected anaplasia | FFPE | splice ex9, het | |||
| 88 b | Anaplasia | cryo | G245D, het | 2 | ||
| 88 c | 100% regression | cryo | wt | 2 | ||
| 93 a | Macrodissected non‐anaplasia | FFPE | wt | |||
| 93 b | Macrodissected anaplasia | FFPE | P278S hom | |||
| 93 c | Not done | cryo | P278S hom | 1 | ||
| 94 a | Macrodissected anaplasia | FFPE | splice ex7 het | |||
| 94 b | Macrodissected non‐anaplasia | FFPE | wt | |||
| 95 a | Macrodissected anaplasia | FFPE | Primary tumour | R175H, hom | ||
| 95 b | Macrodissected non‐anaplasia | FFPE | Primary tumour | wt | ||
| 95 c | Anaplasia | cryo | Primary tumour | F338dupl, hom | 100% | 1 |
| 95 d | Anaplasia | cryo | Primary tumour | F338dupl, hom | 100% | |
| 95 e | Anaplasia | cryo | Primary tumour | F338dupl, hom | 100% | 1 |
| 95 f | Anaplasia | cryo | Relapse | F338dupl, hom | 100% | 1 |
| 95 g | Anaplasia | cryo | Relapse | F338dupl, hom | 100% | |
| 95 h | Anaplasia | cryo | Relapse | F338dupl, hom | 100% | 1 |
| 96 a | Macrodissected anaplasia | FFPE | R175H | 80% | ||
| 96 b | Macrodissected anaplasia | FFPE | R175H het | |||
| 96 c | Macrodissected non‐anaplasia | FFPE | wt | |||
| 99 a | No anaplasia | cryo | wt | nd | 2 | |
| 99 b | Anaplasia | cryo | R175H hom | 90% | 1 | |
| 102 a | Anaplasia | cryo | fsS240*1 hom | 90% | 1 | |
| 102 b | Anaplasia | cryo | fsS240*1 hom | 90% | 1 | |
| 103 a | Anaplasia | cryo | G334_R337 del | 90% | 1 | |
| 103 b | No anaplasia | cryo | wt | 0% | ||
| 104 a | Macrodissected anaplasia | FFPE | hom R213* | 1 | ||
| 104 b | Anaplasia | cryo | hom R213* | 1 | ||
| 104 c | Stroma (myogenic), no anaplasia | cryo | wt | 2 | ||
| 105 a | Macrodissected anaplasia | FFPE | R158L het | 1 | ||
| 105 b | Blastema, no anaplasia | cryo | R158L het | 2 | ||
| 105 c | 99% regression | cryo | wt | 2 | ||
| 106 a | Macrodissected anaplasia | FFPE | fsR342*2 hom | |||
| 106 b | 99% regression, no anaplasia | cryo | wt | |||
| 106 c | 99% regression, no anaplasia | cryo | wt | |||
| 108 a | Macrodissected non‐anaplasia | FFPE | wt | |||
| 108 b | Macrodissected anaplasia | FFPE | P309L hom | 1 | ||
| 108 c | Blastema | cryo | wt | 1 | ||
| 108 d | Blastema | cryo | wt | 1 | ||
| 108 e | Blastema | cryo | wt | 2 | ||
| 109 a | Macrodissected anaplasia | FFPE | S362N hom | |||
| 109 b | Blastema | cryo | wt |