Table 1.
DNMT, TET, and IDH observed mutations in hematological malignancies and their prognostic value.
| Gene | Mutation | Condition | Frequency | Prognostic value | References |
|---|---|---|---|---|---|
| DNMT1 | Missense and nonsense mutations | AML | Small subset of cases (rare mutations) | Not studied | [149, 150, 151] |
| DNMT3A | Missense mutation (amino acid R882H) | AML | 20–60% (hot spot) | Adverse prognostic impact | [9, 150, 152, 153, 154] |
| MDS | 10% | Adverse prognostic impact | [155, 156] | ||
| Frameshift and truncating mutations | AML | 15–20% | Not studied | [9] | |
| DNMT3B | Truncating mutations | AML | Small subset of cases (rare mutations) | Not studied | [157] |
| Missense mutation (amino acid N442K) | ATL | Small subset of cases (rare mutations) | Not studied | [158] | |
| TET1 | Missense mutations | AML | ~ 1% | Not studied | [40, 150] |
| Missense and frameshift mutations | T‐ALL | 14% | Not studied | [40, 159] | |
| TET2 | Several missense, nonsense, and frameshift mutations | AML | ~ 10% | Shorter overall survival (mutated vs no mutated) | [41] |
| Truncating mutations | MDS | 10–30% | Not studied | [42, 43] | |
| Several missense, nonsense, and frameshift mutations | MPN | 10–20% | Not studied | [41, 42, 43] | |
| Several missense, nonsense, and frameshift mutations | CMML | 40–50% | Not studied | [41] | |
| Several missense, nonsense, and frameshift mutations | DLBCL | 5–10% | Not observed | [117] | |
| IDH1 | Missense mutation (amino acid R132H) | AML | ~ 10% | Controversial | [48, 58] |
| MDS | 2–10% | Controversial | [58, 160] | ||
| IDH2 | Missense mutation (amino acid R172K) | AML | ~ 10% | Controversial | [48, 58] |
| MDS | 2–5% | Controversial | [58, 160] | ||
| Missense mutation (amino acid R140Q) | AML | ~ 10% | Controversial | [48, 58] | |
| MDS | 2–10% | Controversial | [58, 160] |