Significance of NPM1 Gene Mutations in AML

Int J Mol Sci. 2021 Sep 17;22(18):10040. doi: 10.3390/ijms221810040.


The aim of this literature review is to examine the significance of the nucleophosmin 1 (NPM1) gene in acute myeloid leukaemia (AML). This will include analysis of the structure and normal cellular function of NPM1, the type of mutations commonly witnessed in NPM1, and the mechanism by which this influences the development and progression of AML. The importance of NPM1 mutation on prognosis and the treatment options available to patients will also be reviewed along with current guidelines recommending the rapid return of NPM1 mutational screening results and the importance of employing a suitable laboratory assay to achieve this. Finally, future developments in the field including research into new therapies targeting NPM1 mutated AML are considered.

Keywords: AML; DNMT3A; FLT3; NPM1; fragment analysis.

Publication types

  • Review

MeSH terms

  • DNA (Cytosine-5-)-Methyltransferases / genetics*
  • DNA Methyltransferase 3A
  • Humans
  • Leukemia, Myeloid, Acute / genetics*
  • Mutation / genetics*
  • Nuclear Proteins / genetics*
  • Nucleophosmin
  • fms-Like Tyrosine Kinase 3 / genetics*


  • DNMT3A protein, human
  • NPM1 protein, human
  • Nuclear Proteins
  • Nucleophosmin
  • DNA (Cytosine-5-)-Methyltransferases
  • DNA Methyltransferase 3A
  • FLT3 protein, human
  • fms-Like Tyrosine Kinase 3