TABLE 3.
Pooled prevalence of common copy number alterations and potentially actionable alterations in NEPC
| Gene | Studies (no.) | Sample size | Pooled prevalence, % (95% CI) | I 2, % | Het. p |
|---|---|---|---|---|---|
| RB1 loss | 10 | 177 | 48.3 (37.8–76.2) | 80 | <0.01 |
| TP53 loss | 8 | 159 | 42.8 (20.9–68.0) | 69 | <0.01 |
| PTEN loss | 8 | 129 | 37.0 (26.5–48.9) | 35 | 0.15 |
| RB1 alt | 11 | 395 | 62.6 (46.2–76.6) | 76 | <0.01 |
| TP53 alt | 11 | 183 | 65.5 (3.8–30.7) | 45 | 0.05 |
| RB1/TP53 alt | 10 | 177 | 83.8 (71.3–91.5) | 52 | 0.03 |
| Concurrent RB1 + TP53 alt | 10 | 174 | 43.9 (28.2–60.9) | 73 | <0.01 |
| AURKA amp | 2 | 66 | 28.2 (11.5–54.3) | 81 | 0.02 |
| MYCN amp | 2 | 59 | 22.9 (7.0–53.8) | 82 | 0.02 |
| del ATM alt | 4 | 113 | 4.4 (1.9–10.2) | 0 | 1.00 |
| del BRCA1 alt | 4 | 113 | 2.7 (0.7–7.9) | 0 | 0.90 |
| del BRCA2 alt | 4 | 113 | 10.6 (6.1–17.8) | 0 | 0.69 |
| del ATM/BRCA alt | 4 | 113 | 16.8 (11.0–24.9) | 0 | 0.48 |
Note: Het = heterogeneity; alt = alteration, including mutation and copy number alteration; amp = amplification; del = deleterious.