Features of mutations most frequently associated with AML carrying a normal karyotype (AML-NK) compared with a primary genetic lesion [t(8;21)]
| Feature . | Primary genetic event in AML* [eg, t(8;21)] . | NPM1 . | CEBPA . | FLT3 ITD . | FLT3 TKD . | NRAS . | WT1 . | MLL-PTD . | IDH1 . |
|---|---|---|---|---|---|---|---|---|---|
| Recurrence | Yes | 50%-60% | 5%-10% | 30% | 10%-15% | 10%-12% | 7%-10% | 5%-10% | ∼ 15% |
| Distinct GEP | Yes | Yes | Yes‡ | No | No | NA | Yes | No | No |
| Distinct microRNA profile | Yes | Yes | Yes | Yes | NA | NA | NA | NA | No |
| Specificity for AML | Yes | Yes | Yes | Yes§ | Yes§ | No | No | Yes | No |
| Mutually exclusive† | Yes | Yes | Yes | No | No | No | No | Yes | Yes‖ |
| Timing of the event | Early | Early | Early | Usually late¶ | Usually late¶ | Usually late | NA | Early | NA |
| % mutated cells within the leukemic population | All | All | All | It may occur in a subclone | It may occur in a subclone | It may occur in a subclone | NA | All | All |
| Loss at relapse | No | No | No | Possible | Possible | Possible | Possible | No | Rarely28 |
| Feature . | Primary genetic event in AML* [eg, t(8;21)] . | NPM1 . | CEBPA . | FLT3 ITD . | FLT3 TKD . | NRAS . | WT1 . | MLL-PTD . | IDH1 . |
|---|---|---|---|---|---|---|---|---|---|
| Recurrence | Yes | 50%-60% | 5%-10% | 30% | 10%-15% | 10%-12% | 7%-10% | 5%-10% | ∼ 15% |
| Distinct GEP | Yes | Yes | Yes‡ | No | No | NA | Yes | No | No |
| Distinct microRNA profile | Yes | Yes | Yes | Yes | NA | NA | NA | NA | No |
| Specificity for AML | Yes | Yes | Yes | Yes§ | Yes§ | No | No | Yes | No |
| Mutually exclusive† | Yes | Yes | Yes | No | No | No | No | Yes | Yes‖ |
| Timing of the event | Early | Early | Early | Usually late¶ | Usually late¶ | Usually late | NA | Early | NA |
| % mutated cells within the leukemic population | All | All | All | It may occur in a subclone | It may occur in a subclone | It may occur in a subclone | NA | All | All |
| Loss at relapse | No | No | No | Possible | Possible | Possible | Possible | No | Rarely28 |
GEP indicates gene expression profiling; and NA, not available data.
Refers to typical features of an “AML with recurrent genetic abnormality” (WHO 2008) that is used for comparison.
With other recurrent genetic abnormalities.
Refers to biallelic CEBPA-mutated cases.
Rarely occurs in ALL.
Occasionally seen in AML carrying recurrent cytogenetic abnormalities and complex karyotype.
In NPM1/FLT3-ITD double-mutated cases, NPM1 mutation appears to precede FLT3-ITD.