Table 1.
Prognostic mutations in acute myeloid leukemia.
| Mutation | Chromosome | Prognostic impact | Frequency in CN-AML (%) |
|---|---|---|---|
| FLT3-ITD | 13q12 | Unfavorable | 25–35 |
| FLT3-TKD | Controversial | 5–10 | |
|
| |||
| NPM1 | 5q35 | Favorable in younger patients with mutated NPM1 without FLT3-ITD | 45–60 |
| Favorable in older patients regardless of FLT3-ITD | |||
|
| |||
| IDH1 | 2q33 | Unfavorable in younger NPM1 wild-type CN-AML; controversial | 7.6–13.6 |
|
| |||
| IDH2 | 15q26 | Unfavorable in older patients; controversial | 8.7–19 |
|
| |||
| DNMT3A | 2p23.3 | Age- and mutation-type dependent | 27.2–33.7 |
| Unfavorable in younger patients with non-R882 mutations | |||
| Unfavorable in older patients with R882 mutations | |||
|
| |||
| CEBPA | 19q13.1 | Favorable, especially if both alleles mutated | 10–15 |
|
| |||
| RUNX1 | 8q22 | Unfavorable; however, evaluation of prognostic significance is ongoing | 6.3–13.2 |
|
| |||
| WT1 | 11p13 | Unfavorable; controversial | 10–13 |
|
| |||
| MLL-PTD | 11q23 | Unfavorable if not treated with high-dose chemotherapy and HSCT | 11 |
|
| |||
| TET2 | 4q24 | Unfavorable in the favorable risk category of ELN classification; controversial | 23 |
|
| |||
| ASXL1 | 20q11 | Unfavorable in the favorable risk category of ELN classification | 10.4 |
AML: Acute myeloid leukemia; CN-AML: Cytogenetically normal acute myeloid leukemia; ELN: European LeukemiaNet; HSCT: Hematopoietic stem cell transplantation.