Table 3.
Proposed refinement of the 2017 European LeukemiaNet (ELN) risk classification by additional gene mutations
| Risk category | Genetic abnormality |
|---|---|
| Favorable | t(8;21)(q22;q22.1); RUNX1-RUNX1T1 |
| inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 | |
| Mutated NPM1 without FLT3-ITD or with FLT3-ITDlow | |
| Mutated NPM1 without WT1 mutation | |
| Biallelic mutated CEBPA | |
| Intermediate | Mutated BCORa (without adverse-risk genetic lesions) |
| Mutated SETBP1a(without adverse-risk genetic lesions) | |
| Mutated IDH2b(without adverse-risk genetic lesions) | |
| Wild-type NPM1 without FLT3-ITD or with FLT3-ITDlow (without adverse-risk genetic lesions) | |
| t(9;11)(p21.3;q23.3); MLLT3-KMT2A | |
| Cytogenetic abnormalities not classified as favorable or adverse | |
| Adverse | t(6;9)(p23;q34.1); DEK-NUP214 |
| t(v;11q23.3); KMT2A rearranged | |
| t(9;22)(q34.1;q11.2); BCR-ABL1 | |
| inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2); GATA2,MECOM (EVI1) | |
| −5 or del(5q); −7; −17/abn(17p) | |
| Complex karyotype, monosomal karyotype | |
| FLT3-ITDhigh (irrespective of NPM1 mutation status)c | |
| Mutated NPM1 and mutated WT1a | |
| Mutated DNMT3Aa,b | |
| Mutated RUNX1b | |
| Mutated ASXL1b | |
| Mutated TP53 | |
| Mutated ZRSR2a |
Indicated in red color are gene mutations identified in our models whose outcomes resembled those of the groups that they were now added to, and that may refine the current risk stratification
a
Markers impacting on disease-free and overall survival, but not on the achievement of a complete remission.
b
These markers should not be used as an adverse prognostic marker if they co-occur with favorable-risk AML subtypes.
c
FLT3-ITDhigh is defined as ≥0.5 as per ELN guidelines.