Table 2:
Cytogenetic characteristics at time of diagnosis
| Characteristics | Median or N | Range or % |
|---|---|---|
| Karyotype | ||
| complex | 75 | 90.4% |
| monosomal | 54 | 65.1% |
| 17p deletion | 24 | 28.9% |
| Characteristics of TP53 variants | ||
| patients with multiple TP53 abnormalities | 17 | 20.5% |
| 4 TP53 variants | 1 | 1.2% |
| 2 TP53 variants | 16 | 19.3% |
| missense variant | 82 patients (56 unique variants) | |
| splicesite variant | 9 patients (7 unique variants) | |
| frameshift variant | 6 patients (6 unique variants) | |
| nonsense variant | 4 patients (3 unique variants) | |
| Concurrent variants | ||
| none | 53 | 62.7% |
| TP53 + 1 additional variant | 18 | 21.7% |
| TP53 + 2 variants | 9 | 10.8% |
| TP53 + ≥3 variants | 3 | 3.6% |
| Specific concurrent variants | ||
| DNMT3A | 8 | 9.6% |
| JAK2 | 6 | 7.2% |
| TET2 | 5 | 6.0% |
| U2AF1 | 4 | 4.8% |
| NRAS | 4 | 4.8% |
| EZH2 | 3 | 3.6% |
| IDH1 | 3 | 3.6% |
| PTPN11 | 2 | 2.4% |
| KIT | 2 | 2.4% |
| One patient each with mutations in IDH2, NPM1, ZRSR2, CBL, SF3B1, PHF6, EP300, NF1, ETV6, SRSF2, CALR | 1 | 1.2% |
| Association of complex karyotype and presence or absence of concurrent variants | ||
| complex karyotype without other variants | 51 | 68.0% |
| complex karyotype with other variants | 24 | 32.0% |
| non-complex karyotype without other variants | 2 | 25.0% |
| non-complex karyotype with other variants | 6 | 75.0% |