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
Table 1: Mutation roles, occurrence, co-occurrence with other AML mutations, their prognostic value and molecular targeted therapies of these distinct mutations.