Table 2.
The AGR
| Genetic risk | Cytogenetic-molecular subsets, based on ELN* | Cytogenetic-molecular subsets adapted for AGR |
|---|---|---|
| Favorable | NPM1 mutated without FLT3-ITD (normal karyotype) | NPM1, which is known to not have FLT3 ITD, and: normal karyotype, or any other aneuploidy or nonrecurrent translocation/inversion, or unknown or inconclusive karyotype.† |
| Biallelic mutated CEBPA (normal karyotype) | Biallelic mutated CEBPA, and normal karyotype, or any other aneuploidy or nonrecurrent translocation/inversion, or unknown or inconclusive karyotype.† | |
| t(8;21)(q22;q22); RUNX1-RUNX1T1 | t(8;21)(q22;q22); RUNX1-RUNX1T1 | |
| inv(16)(p13.1;q22) or t(16;16)(p13.1;q22); CBFB- MYH11 | inv(16)(p13.1;q22) or t(16;16)(p13.1;q22); CBFB-MYH11 | |
| Intermediate‡ | NPM1 mutated with FLT3-ITD mutation (normal karyotype) | NPM1 mutated, where the FLT3 status is unknown, and: normal karyotype, or any other aneuploidy or nonrecurrent translocation/inversion, or unknown or inconclusive karyotype.† |
| t(9;11)(p21.3;q23.3); MLLT3-KMT2A | t(9;11)(p21.3;q23.3); MLLT3-KMT2A | |
| Cytogenetic: normal or not defined as either favorable or adverse | Cytogenetic: normal or not defined as either favorable or adverse | |
| Adverse | inv(3)(q21.3;q26.2) or t(3;3)(q21.2;q26.2); GATA2, MECOM (EVI1) | inv(3)(q21.3;q26.2) or t(3;3)(q21.2;q26.2); GATA2, MECOM (EVI1) |
| t(6;9)(p23;q34.1); DEK-NUP214 | t(6;9)(p23;q34.1); DEK-NUP214 | |
| t(v;11q23.3); KMT2A rearranged | t(v;11q23.3); KMT2A rearranged | |
| t(9;22)(q34.1;q11.2): BCR-ABL1 | t(9;22)(q34.1;q11.2): BCR-ABL1 | |
| −5 or del(5q); –7; abnl(17p); complex, or monosomal karyotype§ | Adverse prognosis aneuploidy or complex/monosomal karyotype, and: NPM1, FLT3-ITD, or CEBPA wild-type, unknown or inconclusive.† | |
| FLT3-ITD mutated with NPM1 wild-type | FLT3-ITD mutated with: NPM1 wild-type, NPM1 status unknown or inconclusive; and: normal karyotype, or any other aneuploidy or nonrecurrent translocation/inversion, or unknown or inconclusive karyotype.† |
ELN2010.23
AGR was trained and tested in cohorts in which up to 30% of cytogenetics-molecular data points were missing. Where possible, we recommend that full cytogenetics/molecular testing be performed.
A sample with absent/inconclusive cytogenetics result, which is NPM1, CEBPA, and FLT3-ITD wild-type, and is transcript negative (by standard quantitative polymerase chain reaction) for RUNX1-RUNX1T1 and CBFB-MYH11, is classified as intermediate risk in AGR.
Complex cytogenetics: 3 or more chromosome abnormalities in the absence of recurring translocations or inversions defined as FR; monosomal karyotype: the presence of 1 single monosomy (excluding loss of X or Y) in association with at least another additional monosomy or structural chromosome abnormality.
Bold indicates deviation from ELN2010.