Table 5.
2017 ELN risk stratification by genetics
| 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† | |
| Biallelic mutated CEBPA | |
| Intermediate | Mutated NPM1 and FLT3-ITDhigh† |
| 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|| | |
| Wild-type NPM1 and FLT3-ITDhigh† | |
| Mutated RUNX1¶ | |
| Mutated ASXL1¶ | |
| Mutated TP53# |
Frequencies, response rates, and outcome measures should be reported by risk category, and, if sufficient numbers are available, by specific genetic lesions indicated.
Prognostic impact of a marker is treatment-dependent and may change with new therapies.
Low, low allelic ratio (<0.5); high, high allelic ratio (≥0.5); semiquantitative assessment of FLT3-ITD allelic ratio (using DNA fragment analysis) is determined as ratio of the area under the curve “FLT3-ITD” divided by area under the curve “FLT3-wild type”; recent studies indicate that AML with NPM1 mutation and FLT3-ITD low allelic ratio may also have a more favorable prognosis and patients should not routinely be assigned to allogeneic HCT.57-59,77
The presence of t(9;11)(p21.3;q23.3) takes precedence over rare, concurrent adverse-risk gene mutations.
Three or more unrelated chromosome abnormalities in the absence of 1 of the WHO-designated recurring translocations or inversions, that is, t(8;21), inv(16) or t(16;16), t(9;11), t(v;11)(v;q23.3), t(6;9), inv(3) or t(3;3); AML with BCR-ABL1.
Defined by the presence of 1 single monosomy (excluding loss of X or Y) in association with at least 1 additional monosomy or structural chromosome abnormality (excluding core-binding factor AML).116
These markers should not be used as an adverse prognostic marker if they co-occur with favorable-risk AML subtypes.