Genetic abnormalities in pediatric AML
| Feature . | % . | Clinical significance . |
|---|---|---|
| Genetic features with proven prognostic implications | ||
| t(8;21)(q22;q22)/RUNX1-RUNX1T1 | 15 | Favorable prognosis |
| Not candidates for HSCT | ||
| inv(16)(p13.1;q22)/CBFβ-MYH11 t(16;16)(p13.1;q22)/CBFβ-MYH11 | 10 | Favorable prognosis |
| Not candidates for HSCT | ||
| FLT3-ITD | 12 | Poor prognosis, especially in cases with a high ratio of mutant to wild-type allele |
| May benefit from HSCT or treatment with FLT3 inhibitors | ||
| −7 | 1 | Poor prognosis |
| Genetic features with probable prognostic implications | ||
| 11q23; MLL rearrangements | 20 | |
| t(9;11)(p12;q23)/MLL-AF9 | 8 | Favorable prognosis in some studies |
| t(1;11)(q21;q23)/MLL-AF1q | 1 | Favorable prognosis |
| t(6;11)(q27;q23)/MLL-AF6 | 1 | Poor prognosis |
| t(10;11)(p12;q23)/MLL-AF10 | 1 | Poor prognosis |
| Others | 9 | Intermediate prognosis |
| t(1;22)(p13;q13)/RBM15-MKL1 | 1 | Only observed in megakaryoblastic leukemia |
| Probably associated with favorable prognosis | ||
| NPM1 mutations | 8 | Seen in 20% of cases with normal karyotype |
| Favorable prognosis, except in cases with FLT3-ITD | ||
| CEBPA mutations | 5 | Seen in 17% of cases with normal karyotype |
| Favorable prognosis, except in cases with FLT3-ITD | ||
| Favorable prognosis probably limited to cases with biallelic mutations | ||
| t(6;9)(p23;q34)/DEK-NUP214 | 1 | Poor prognosis |
| t(8;16)(p11;p13)/MYST3-CREBBP | 1 | Poor prognosis |
| t(16;21)(q24;q22)/RUNX1-CBFA2T3 | 1 | Poor prognosis |
| Genetic features with unknown prognostic implications | ||
| WT1 | ||
| Mutation | 10 | Unknown |
| SNP rs16754 | 25 | May be associated with favorable outcome |
| IDH1 and IDH2 | ||
| Mutation | 4 | Unknown |
| IDH1 SNP rs11554137 | 10 | Unknown |
| RUNX1 mutation | Rare | Unknown |
| TET2 mutation | Rare | Unknown |
| DNMT3A mutation | Rare | Unknown |
| Feature . | % . | Clinical significance . |
|---|---|---|
| Genetic features with proven prognostic implications | ||
| t(8;21)(q22;q22)/RUNX1-RUNX1T1 | 15 | Favorable prognosis |
| Not candidates for HSCT | ||
| inv(16)(p13.1;q22)/CBFβ-MYH11 t(16;16)(p13.1;q22)/CBFβ-MYH11 | 10 | Favorable prognosis |
| Not candidates for HSCT | ||
| FLT3-ITD | 12 | Poor prognosis, especially in cases with a high ratio of mutant to wild-type allele |
| May benefit from HSCT or treatment with FLT3 inhibitors | ||
| −7 | 1 | Poor prognosis |
| Genetic features with probable prognostic implications | ||
| 11q23; MLL rearrangements | 20 | |
| t(9;11)(p12;q23)/MLL-AF9 | 8 | Favorable prognosis in some studies |
| t(1;11)(q21;q23)/MLL-AF1q | 1 | Favorable prognosis |
| t(6;11)(q27;q23)/MLL-AF6 | 1 | Poor prognosis |
| t(10;11)(p12;q23)/MLL-AF10 | 1 | Poor prognosis |
| Others | 9 | Intermediate prognosis |
| t(1;22)(p13;q13)/RBM15-MKL1 | 1 | Only observed in megakaryoblastic leukemia |
| Probably associated with favorable prognosis | ||
| NPM1 mutations | 8 | Seen in 20% of cases with normal karyotype |
| Favorable prognosis, except in cases with FLT3-ITD | ||
| CEBPA mutations | 5 | Seen in 17% of cases with normal karyotype |
| Favorable prognosis, except in cases with FLT3-ITD | ||
| Favorable prognosis probably limited to cases with biallelic mutations | ||
| t(6;9)(p23;q34)/DEK-NUP214 | 1 | Poor prognosis |
| t(8;16)(p11;p13)/MYST3-CREBBP | 1 | Poor prognosis |
| t(16;21)(q24;q22)/RUNX1-CBFA2T3 | 1 | Poor prognosis |
| Genetic features with unknown prognostic implications | ||
| WT1 | ||
| Mutation | 10 | Unknown |
| SNP rs16754 | 25 | May be associated with favorable outcome |
| IDH1 and IDH2 | ||
| Mutation | 4 | Unknown |
| IDH1 SNP rs11554137 | 10 | Unknown |
| RUNX1 mutation | Rare | Unknown |
| TET2 mutation | Rare | Unknown |
| DNMT3A mutation | Rare | Unknown |
SNP indicates single nucleotide polymorphism.