Table 2.
Type of BCR::ABL1 transcript and occurrence of mutations for all patients and for patients with secondary or de novo CML-BP.
| BCR::ABL1 transcript type (N = 129) | All patients n | Secondary CML-BP n | de novo CML-BP n |
|---|---|---|---|
| e13a2 | 47 | 28 | 19 |
| e14a2 | 47 | 31 | 16 |
| e13a2 + e14a2 | 23 | 14 | 9 |
| e1a2 | 7 | 2 | 5 |
| e6a2 | 1 | 0 | 1 |
| e8a2 | 1 | 1 | 0 |
| e19a2 | 2 | 0 | 2 |
| e13a3 | 1 | 0 | 1 |
| Not reported | 111 | 75 | 36 |
| Presence of BCR::ABL1 mutations (N = 166) | |||
| Yes | 46 (27.7%) | 39 (37.5%) | 7 (11.3%) |
| Not reported | 74 | 47 | 27 |
| BCR::ABL1 mutations (N = 59)a | |||
| T315I | 12 | 9 | 3 |
| E255K | 11 | 10 | 1 |
| F317L | 5 | 5 | 0 |
| Y253H | 5 | 5 | 0 |
| F359V | 3 | 3 | 0 |
| G250E | 2 | 2 | 0 |
| G250R | 2 | 1 | 1 |
| V299L | 2 | 2 | 0 |
| E459K | 1 | 1 | 0 |
| F317I | 2 | 2 | 0 |
| H396R | 2 | 2 | 0 |
| Q252H | 1 | 1 | 0 |
| Y393C | 1 | 1 | 0 |
| V280I | 1 | 1 | 0 |
| Others | 7 ( + 2 unknown) | 5 ( + 2 unknown) | 2 |
| Mutations/alterations in genes outside BCR::ABL1 (N = 30)b | |||
| WT1 | 5 | 4 | 1 |
| RUNX1c | 1c + 3 | 1c + 2 | 1 |
| ASXL1c | 1c + 1 | 1c + 1 | 0 |
| FLT3-ITDc | 1 | 1 | 0 |
| FLT3-TKD | 1 | 1 | 0 |
| BCORL1d | 1 | 1 | 0 |
| IDH1d | 1 | 1 | 0 |
| KRASc | 1 | 1 | 0 |
| NRASe | 1e | 1e | 0 |
| CBFB:MYH11 | 1 | 1 | 0 |
| MECOM | 1 | 1 | 0 |
| JAK2f | 1 | 1 | 0 |
| NPM1 | 1 | 0 | 1 |
| TP53e,g | 1 + 1e + 1g | 1 + 1e + 1g | 0 |
| ZRSR2e | 1 | 1 | 0 |
| EZH2e | 1 | 1 | 0 |
| STAG2g | 1 | 1 | 0 |
| GATA2 | 1 | 0 | 1 |
| NOTCH1f | 1 | 1 | 0 |
| EV1 overexpression | 1 | 1 | 0 |
| Not reported | 210 | 125 | 85 |
CML-BP chronic myeloid leukemia blast phase.
a11 patients had more than one BCR::ABL1 mutation.
b5 patients had more than one mutation.
csame patient.
dsame patient.
esame patient.
fsame patient.
gsame patient.