Table 3.
Ploidy and distribution of mutations in TP53, PTEN, NOTCH1, KRAS, NRAS, FBXW7, deletions IKZF1, CDKN2A/B, TP53, and gene fusions BCR-ABL1, E2A-PBX1 and KMT2A rearrangements in 13 ALL samples.
| Patient Number | Diagnosis | CNV Plot Obtained | Ploidy | Prognosis Genes Mutated or Deleted |
|---|---|---|---|---|
| 1 | B-ALL | 48, XXX: +22, +X | Aneuploid | CDKN2A/B |
| 2 | B-ALL | 47, XX: 9p-, +21 | Aneuploid; segmental anomaly | CDKN2A/B |
| 3 | T-ALL | 46, XX | Diploid | NOTCH1 |
| 4 | B-ALL | 47, XY: +21 | Aneuploid | NRAS |
| 5 | B-ALL | 46, XX | Diploid | - |
| 6 | B-ALL | 46, XY | Diploid | - |
| 7 | B-ALL | 46, XY: 8q+, 9p- 12p- | Diploid; segmental anomalies | NRAS, CDKN2A/B |
| 8 | T-ALL | 46, XY: 4q+, 7p- | Diploid; segmental anomalies | - |
| 9 | B-ALL | 46, XY | Diploid | - |
| 10 | B-ALL | 47, XY: 13q-, 20q-, +21 | Aneuploid; segmental anomalies | KRAS |
| 11 | B-ALL | 48, XX: +10, +21 | Aneuploid | NRAS |
| 12 | B-ALL | 53, XXY: +5, +8, +12, +14, +17, +21, +X | Hyperdiploid (>50 chromosomes) | KRAS |
| 13 | B-ALL | 46, XY: 7p-, 8p-, 8q+, 9p-, 11p-, +22 | Complex karyotype | IKZF1, CDKN2A/B |