Review Article

Molecular Mutations and Their Cooccurrences in Cytogenetically Normal Acute Myeloid Leukemia

Table 1

Molecular classification of CN-AML and clinical outcomes.

AML with NPM1 mutation
NPM1Better EFS and OS [2932]; better CRR, high RR with EFS or OS benefits [33]; better OS [34]
NPM1/DNMT3AWorse OS [41]
NPM1/DNMT3A/FLT3Worse OS [18]
NPM1/DNMT3A/NRASBetter OS [18]
NPM1/TET2Worse CRR, EFS, DFS, and OS [50]; no impact on outcomes [41]
NPM1/IDH1 or NPM1/IDH2Worse OS [55]; better OS [27, 52]

AML with mutated chromatin, RNA-splicing genes, or both
RUNX1Worse EFS, DFS [59, 61, 62]; worse OS [5962]
MLLWorse EFS [60, 66, 67]; worse OS [27, 41, 60, 67]
ASXL1Worse outcomes [27, 60, 75]; worse CR, EFS, DFS, and OS [77]
BCORWorse EFS and OS [81]
PHF6Worse OS [27]
AML with CEBPA mutation
CEBPABetter EFS and OS [86]
CEBPA/TET2Worse OS [89]
CEBPA/GATA2Better OS [89]

AML with IDH2 mutationWorse RR and OS [52, 90]; better OS [18]

EFS: event-free survival; OS: overall survival; CRR: complete remission rate; RR: relapse rate; DFS: disease-free survival.
Without FLT3.