| t(8;21)(q22;q22.1); RUNX1-RUNX1T1 |
7% of adults with AML and most children with AML |
| inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 |
5% of adults with de novo AML |
| PML-RARA, t(9;11)(p21.3;q23.3); MLLT3-KMT2A |
6% of young adults with de novo AML and up to 12% of children with AML |
| t(6;9)(p23;q34.1); DEK-NUP214 |
1% of adults and approximately 10% of children with de novo AML |
| inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2); GATA2,MECOM |
1% of AML cases |
| t(1;22)(p13.3;q13.3); RBM15-MKL1 |
less than 0.5% of AML |
| BCR-ABL1 |
2% of AML and 38% of mixed- phenotype acute leukemia and presents poor prognosis |
| Chromosome 5 genetic defects such as monosomy 5 or del(5q) |
frequently involved in myelodysplastic syndrome (MDS) and AML with MDS-related features |
| Frequently Mutated Genes in AML |
Notes |
| NPM1 |
25%-50% de novo AML but not secondary AML. Usually mut-NPM1 confers better prognosis and increased response to chemotherapy. |
| CEBPA |
CCAAT/enhancer binding protein alpha biallelic mutations confer better prognosis |
| RUNX1 |
3–33% of people with MDS and AML |
| FLT3 |
FLT3-internal tandem duplications confer adverse prognosis. 10%-30% of patients with cytogenetically normal AML |
| cKIT |
6% of de novo AML |
| IDH1/2 |
15% de novo AML |
