Table 4.
Summary of the impact of tumor suppressor genes mutation on prognosis and recommendations for clinical testing.
| Mutated Gene | Prognosis | Current Diagnostic Practice 1 | |
|---|---|---|---|
| ASXL1 | Poor | Worse OS Correlation with age > 60 years and higher WBC counts |
Recommended by 2017 ELN guidelines |
| CEBPA | Variable | Positive in CN-AML Biallelic mutations have better EFS, DFS and OS Single mutations with NPM1mut/FLT3-ITDlow cases have worse OS compared with CEBPA wild-type NPM1mut/FLT3-ITDlow cases Impaired outcome with concurrent TET2 mutation Better OS with concurrent GATA2 mutation |
Recommended by 2017 ELN guidelines |
| DNMT3A | Poor | Linked to adverse outcomes | Recommended: pre-leukemic event, could indicate higher probability of relapse |
| IDH1 | Not consistent data | Impaired outcome in R132 mut/FLT3 wild-type patients | Recommended: new specific inhibitor (ivosidenib) in clinical trials |
| IDH2 | Not consistent data | R172 showed no correlation to outcome or response R140 improved OS and decreased response rates |
Recommended: new specific inhibitor (enasidenib) in clinical trials |
| NPM1 | Good | Improved OS, DFS, and relapse-free survival (RFS) | Recommended by 2017 ELN guidelines |
| TET2 | Not consistent data | Impaired OS in multivariate analysis Impaired DFS |
Recommended: could respond to HMAs treatment |
| WT1 | Poor | Often concurrent with FLT3 mutations Impaired OS and RFS |
Recommended: could respond to HMAs treatment |
| TP53 | Poor | Associated with resistance to chemotherapy Impaired OS and DFS Association with complex karyotype |
Recommended by 2017 ELN guidelines |
1 Testing for molecular alterations according to the 2017 ELN recommendations.