Table 1.
Mutations associated with CML-BP
| Mutation | Percentage prevalence | Reference |
|---|---|---|
| Double Ph chromosome | 38% | [6] |
| Isochromosome 17q | 30% (myeloid) | [7] |
| Trisomy 8 | 53% (myeloid) | [7] |
| Trisomy 19 | 23% (myleoid) | [7] |
| p53 mutations | 20-30% (myeloid) | [8] |
| p16 mutations | 50% (lymphoid) | [9] |
| NUP98-HOXA9 translocations | NR | [10] |
| AML-EVI1 translocations | NR | [11] |
| GATA-2 mutations | 18% (lymphoid) | [12] |
| RUNX1 mutations | 38% (myeloid) | [13] |
| CDKN2A/B mutations | 50% (lymphoid) | [14] |
| IKZF1 mutations | 55% (lymphoid) | [14] |
| ASXL1 mutations | 20.5% (myeloid) | [16] |
| TET2 mutations | 7.7% (myeloid) | [16] |
| WT1 mutations | 15.4% (myeloid) | [16] |
| NRAS/KRAS mutations | 5.1/ 5.1% (myeloid) | [16] |
Ph, Philadelphia; NUP98, nucleoporin 98 kDa; HOXA9, homeobox A9; AML, acute myeloid leukemia; EVI1, ecotropic viral integration site 1; GATA-2, GATA binding protein 2; RUNX1, runt-related transcription factor 1; CDKN2A/B, cyclin-dependent kinase inhibitor 2A/B; IKZF1, IKAROS family zinc finger 1; ASXL1, additional sex combs like transcription regulator 1; TET2, tet methylcytosine dioxygenase 2; WT1, wilms tumor 1; NRAS, neuroblastoma RAS viral oncogene homolog; KRAS, Kirsten rat sarcoma viral oncogene homolog; NR, not reported.