Common alterations seen with progression of SAMD9/9L syndrome
| Event . | Frequency (Pastor et al15) . | Frequency (Wong et al16) . |
|---|---|---|
| Chromosome alterations | ||
| Monosomy 7 | 86% | 58% |
| Del7q | 14% | 11% |
| UPD7q | 29% | 16% |
| Potential revertant SAMD9/L mutations | 29% | 63% |
| Somatic mutations | SETBP1 | RUNX1 |
| EZH2 | SETBP1 | |
| KRAS | CBL | |
| RUNX1 | BRAF | |
| KRAS | ||
| ETV6 |
| Event . | Frequency (Pastor et al15) . | Frequency (Wong et al16) . |
|---|---|---|
| Chromosome alterations | ||
| Monosomy 7 | 86% | 58% |
| Del7q | 14% | 11% |
| UPD7q | 29% | 16% |
| Potential revertant SAMD9/L mutations | 29% | 63% |
| Somatic mutations | SETBP1 | RUNX1 |
| EZH2 | SETBP1 | |
| KRAS | CBL | |
| RUNX1 | BRAF | |
| KRAS | ||
| ETV6 |