TABLE 1.
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-ITD lowb Biallelic mutated CEBPA |
Intermediate | Mutated NPM1 and FLT3-ITD highb Wild-type NPM1 without FLT3-ITD or with FLT3-ITD lowb (w/o adverse-risk genetic lesions) t(9;11)(p21.3;q23.3); MLLT3-KMT2Ac 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,d monosomal karyotypea Wild-type NPM1 and FLT3-ITD highb Mutated RUNX1e Mutated ASXL1e Mutated TP53f |
Modified according to Ref.13 Defined by the presence of one single monosomy (excluding loss of X or Y) in association with at least one additional monosomy or structural chromosome abnormality (excluding core-binding factor AML).13
Low, low allelic ratio (<0.5); high, high allelic ratio (>0.5); as determined by GeneScan analysis.
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 one of the World Health Organization-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.
These markers should not be used as an adverse prognostic marker if they co-occur with favorable-risk AML subtypes.
TP53 mutations are significantly associated with AML with complex and monosomal karyotype.132