Table 2.

Acute myeloid leukemia molecular abnormalities⁽¹²⁾

Gene	Clinical and biological characteristics
Nucleophosmin 1 (NPMl)	Protein with pleomorphic functions associated with the female gender, number of blasts (CD33+ and 34- or below) and high HDL, 25% to 35% of AML predominantly with NK (45-62%) associated with FLT3-ITD and mutation of the TKD genotype NPM1mut/FLT3-ITDneg associated with good prognosis and appears to not benefit from myeloablative allogeneic HSCT. Where present, it is indicative of good prognosis, regardless of the FLT3-ITD status(19)
FLT3	From the family of tyrosine-kinase receptors class III, it is associated with poor prognostic FLT3-ITDpos ITDpos; FLT3-TKDpos and has an uncertain prognosis
ITD	28% to 34% of NK-AML is associated with unfavorable prognosis; the determination of ITD seems important
TKD	Mutation of around 11% to 14% of the NK-AML associated with improved OS; high levels of this molecule are associated with improved OS
CCAAT enhancer binding protein alpha (CEBPA)	Important transcription factor in the differentiation of neutrophils particularly associated with NK-AML and del(9q) associated with higher CR rate, improved RFS and OS
myeloid/lymphoid gene (MLL)	It is partial tandem duplication; 5% to 11% of NK-AML associated with shorter duration of CR or with reduced RFS or EFS; autologous HSCT appears to have a favorable role in the endpoints
RAS	NRAS mutation found in ∼ 9% of the NK-AML without prognostic significance
Wilms' tumor suppressor gene (WTl)	Mutation found in ∼ 10% of the NK-AML, this mutation does not appear to have an impact on the endpoints, but is associated with the WT1mut/FLT3-ITDpos genotype - increases the risk of failure during induction(20)
DNMT3A	Mutation recently described in ∼ 20% of NK-AML
	Independently associated with poor prognosis(21)

ITD: internal tandem duplication; TKD: mutation in the tyrosine-kinase domain; NK: normal karyotype; CR: complete remission; OS: overall survival; RFS: relapse-free survival; EFS: event-free survival