Table 1.
Common molecular and cytogenetic features in older adult AML
| Genetic Mutation | Risk Stratification by ELN [2, 15, 80] | Frequency in adults < 60 [16, 18, 19] | Frequency in adults ≥ 60 [14, 16–19] |
|---|---|---|---|
| TET2 | 8–10% | 22–42% | |
| DNMT3A | 12–19% | 21–35% | |
| NPM1* | Favorable to intermediate risk† | 19–34% | 16–32% |
| FLT3-ITD* | Intermediate to adverse risk# | 23–32% | 18–27% |
| RUNX1* | Adverse risk | 9–10% | 17–23% |
| SRSF2 | 6% | 14–25% | |
| ASXL1* | Adverse risk | 7–8% | 15–22% |
| IDH2 | 10–11% | 11–18% | |
| IDH1 | 5–7% | 7–17% | |
| TP53* | Very adverse risk | 4–6% | 10–14% |
| NRAS | 12–24% | 4–19% | |
| BCOR | 5% | 10% | |
| FLT3-TKD* | 6% | 7–12% | |
| CEPBA* | Very favorable risk§ | 9–17% | 5–10% |
|
Cytogenetic Abnormality | |||
| −7 or 7q− | Adverse risk | 3–9% | 8–19% |
| −5 or 5q− | Adverse risk | 2–7% | 8–17% |
| +8 | Intermediate risk | 6% | 9% |
| 17p abnormality | Adverse risk | 2% | 8% |
|
Cytogenetic Risk Group | |||
| Unfavorable¶ | Adverse risk | 11–33% | 21–42% |
| Intermediate‡ | Intermediate risk | 46–70% | 53–75% |
| Favorable†† | Favorable risk | 14–19% | 4–5% |
Recommended as part of genetic screening at diagnosis [3].
Favorable risk for mutated NPM1 without FLT3-ITD or with FLT3-ITD allelic ratio 0.5. Intermediate risk for mutated NPM1 with FLT3-ITD allelic ratio 0.5.
Intermediate risk for wild-type NPM1 without FLT3-ITD or with FLT3-ITD allelic ratio 0.5. Adverse risk for wild-type NPM1 with FLT3-ITD allelic ratio 0.5. See NPM1 for risk stratification of AML with mutated NPM1 and concurrent FLT3-ITD mutations.
Very favorable risk for biallelic mutation of CEBPA.
Unfavorable cytogenetic risk group includes patients with t(6;9)(p23;q34.1), t(v;11q23.3), t(9;22)(q34.1;q11.2), inv(3)(q21.3q26.2), t(3;3)(q21.3;q26.2), −5, del(5q), −7, −17, abn(17p), complex karyotypes (3 or more unrelated chromosomal abnormalities), and monosomal karyotypes
Intermediate cytogenetic risk group includes patients with t(9;11)(p21.3;q23.3) and other cytogenetic abnormalities not characterized as favorable or adverse.
Favorable cytogenetic risk groups includes patients with t(8;21)(q22;q22.1), inv(16)(p13.1q22), and t(16;16)(p13.1;q22) unless complex cytogenetic abnormalities were also present.