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Table 1 Clinical features of gene mutations in AML (unclassified mutations)

From: Current findings for recurring mutations in acute myeloid leukemia

Gene

Clinical Features

Selected Ref.

Frequency

DNMT3a

The median OS among patients with Dnmt3a mutations was significantly shorter than wild type patients.

[10]

22.1% in AML

TET2

In the European Leukemia Net (ELN) favorable-risk group, TET2-mutated patients had shorter EFS (EFS; p < 0.001) because of a lower CR rate (p = 0.007), and shorter DFS (p = 0.003), and also had shorter OS (p = 0.001) compared with TET2-wild type patients. (TET2 mutations were not associated with outcomes in the ELN intermediate-I-risk group.)

[21]

23% in CN-AML

IDH1

IDH 1 mutation was associated with normal cytogenetics, a higher RR and a shorter OS. Prognosis was adversely affected by IDH1 mutations with trend for shorter OS (p = 0.110), a shorter EFS (p < 0.003) and a higher cumulative risk for relapse (p = 0.001). Clear prevalence in intermediate risk karyotype group (10.4%, p < 0.001).

[25–27]

6.6-9.6% in AML

IDH2

In IDH2 mutation CN-AML patients, there is a higher risk of induction failure, a higher RR and shorter OS.

[25, 26]

3.0-8.7% in AML

NPM1

The analysis of the clinical impact in 4 groups (NPM1 and FLT3-ITD single mutants, double mutants, and wild-type for both) revealed that patients having only an NPM1 mutation had a significantly better OS and DFS and a lower cumulative incidence of relapse.

[28, 29]

27.5-35.2% in AML

45.7-53% in CN-AML

ASXL1

Patients with ASXL1 mutations had a shorter OS than patients without, but the mutation was not an independent adverse prognostic factor in multivariate analysis.

[39]

10.8% in AML

WT1

Multivariate analysis demonstrated that the WT1 mutation was an independent poor prognostic factor for OS and RFS among total patients and the CN-AML group.

[41, 42]

8.3-10.7% in CN-AML

6.8% in de novo non-M3 AML