Genetically defined prognostic groups in pediatric AML
| Prognosis14,15,22,27 . | Genetics . |
|---|---|
| Favorable | t(8;21)(q22;q22)/RUNX1-RUNX1T1 |
| inv(16)(p13.1q22) or t(16;16)(p13.1;q22)/CBFB-MYH11 | |
| t(15;17)(q22;q21)/PML-RARA* | |
| Molecular (in CN-AML) | |
| NPM1-mutated AML | |
| CEBPA double mutation | |
| t(1;11)(q21;q23)/MLL-MLLT11(AF1Q) | |
| GATA1s† | |
| Intermediate‡ | Cytogenetic abnormalities not classified as favorable or adverse§ |
| Adverse | −7,‖ −5 or del(5q) |
| inv(3)(q21q26.2) or t(3;3)(q21;q26.2)/RPN1-MECOM(EVI1-MDS1-EAP) | |
| t(6;9)(p23;q34)/DEK-NUP214 | |
| t(7;12)(q36;p13)/ETV6(TEL)-HLXB9(MNX1) | |
| t(4;11)(q21;q23)/MLL-MLLT2(AF4) | |
| t(6;11)(q27;q23)/MLL-MLLT4(AF6) | |
| t(5;11)(q35;p15.5)/NUP98-NSD1 | |
| t(10;11)(p12;q23)/MLL-MLLT10(AF10)¶ | |
| complex karyotype# | |
| WT1mut/FLT3-ITD** | |
| t(9;22)(q34;q11.2)†† |
| Prognosis14,15,22,27 . | Genetics . |
|---|---|
| Favorable | t(8;21)(q22;q22)/RUNX1-RUNX1T1 |
| inv(16)(p13.1q22) or t(16;16)(p13.1;q22)/CBFB-MYH11 | |
| t(15;17)(q22;q21)/PML-RARA* | |
| Molecular (in CN-AML) | |
| NPM1-mutated AML | |
| CEBPA double mutation | |
| t(1;11)(q21;q23)/MLL-MLLT11(AF1Q) | |
| GATA1s† | |
| Intermediate‡ | Cytogenetic abnormalities not classified as favorable or adverse§ |
| Adverse | −7,‖ −5 or del(5q) |
| inv(3)(q21q26.2) or t(3;3)(q21;q26.2)/RPN1-MECOM(EVI1-MDS1-EAP) | |
| t(6;9)(p23;q34)/DEK-NUP214 | |
| t(7;12)(q36;p13)/ETV6(TEL)-HLXB9(MNX1) | |
| t(4;11)(q21;q23)/MLL-MLLT2(AF4) | |
| t(6;11)(q27;q23)/MLL-MLLT4(AF6) | |
| t(5;11)(q35;p15.5)/NUP98-NSD1 | |
| t(10;11)(p12;q23)/MLL-MLLT10(AF10)¶ | |
| complex karyotype# | |
| WT1mut/FLT3-ITD** | |
| t(9;22)(q34;q11.2)†† |
Frequencies, response rates, and outcome measures should be reported by genetic group, and, if sufficient numbers are available, by specific subsets indicated.
t(15;17)/PML-RARA is treated separately from other AMLs.
In particular in DS patients and infants with acute megakaryoblastic leukemia, analysis of GATA1s mutations should be included. Identification of GATA1s-associated leukemia in trisomy 21 mosaicism can prevent overtreatment.
Includes all AMLs with normal karyotype, except for those included in the favorable subgroup; most of these cases are associated with poor prognosis, but they should be reported separately as they may respond differently to treatment.
For most abnormalities, adequate numbers have not been studied to draw firm conclusions on their prognostic significance.
Excluding recurrent genetic aberrations, as defined in the WHO 2008 classification.
Results in t(10;11)(p12;q23) are heterogeneous; therefore, intermediate prognosis may also be adequate.
Three or more chromosome abnormalities in the absence of one of the WHO-designated recurring translocations or inversions.
There are differences in the risk allocation of FLT3-ITD considering the allelic ratio.
t(9;22) is rare, but it is included because its poor prognostic impact is known.