| Mutations |
Role of Mutation |
Frequency (%) |
Co-occurrence with other mutation |
Prognostic |
Rationale |
| NPM1 |
4 base pair insertion. Mutation in Exon 12 of gene |
45-64% in CN-AML, 2-8% in paediatric AML |
FLT3 and IDH1 |
controversial |
FLT3 inhibitors and ATRA combination, Sorafenib |
| FLT3-ITD |
JM domain of exon 14-15 |
28-34% in CN-AML, 5-10% in age 5-10 yrs. >35% in adult AML |
Rarely coexist with FLT3-TKD |
unfavourable |
Sorafenib, Quizartinib (AC220), Lestaurtinib (CEP701), Midostaurin (PKC412), Pacritinib (SB1518) |
| CEBPA |
N- and C- terminal mutation in intronless gene |
7% in CN-AML |
FLT3-ITD |
favourable |
Histone deacetylase (HDAC) inhibitors, targeting Sox4 gene |
| MLL-PTD |
Fused exon 9 and 3 |
5-10% in CN-AML |
FLT3-ITD, CEBPA, NMP1 |
unfavourable |
Combination of depsipeptide and decitanib, Human stem cells transplantation (HSCT) |
| KIT |
Gain of function |
6-48% in adult AML, 17-41% paediatric CBF-AML |
Unknown |
unfavourable |
Imatinib, Sunitinib and dasatinib, APcK110 |
| RAS |
Point mutations |
10-25% of AML cases |
Unknown |
controversial |
Cytarabine, Farnesyltransferase Inhibitor |
| RUNX1 |
Translocation, point mutation |
15-20% of AML cases |
Unknown |
controversial |
Epigenetic therapeutic approach |
| IDH1/2 |
Loss of function |
~30% in CN-AML cases |
NMP1 and CEBPA |
unfavourable |
unknown |
| JAK2 |
Gain of function |
Over all 3.2% in AML cases |
KIT and FLT3 |
controversial |
Ruxolitinib, Pacritinib, lestaurtinib, |
| EZH2 |
Transcription of epigenetic regulators |
21-30% in denovo AML |
unknown |
controversial |
3-3-Deazaneplanocin A (DZNep), EPZ005687 and GSK126 |
