Acute Myeloid Leukemia a severe cancer of the bone marrow (BM), characterized by accumulation of leukemic blasts in the BM and peripheral blood. The development is associated with genetic changes, as the Nucleophosmin gene (NPM1), common among 20-30% of the AML cases, being recognized by World Health Organization as genetic abnormality defining of the AML. The genetic variants detection of NPM1 is crucial for treatment of the disease.

To evaluate genetic variants studies of NPM1 in AML patients and importance in the clinical management.

This study a narrative review that used the PubMed platform, search performed between 2019 and June of 2023, using key words: “AML”, “NPM1”, “Genetic variants”, Genetic sequencing”.

Were identified 30 articles in our search, only 12 related NPM1 genetic variants in AML patients, studies performed with Sanger sequencing and Next-Generation Sequencing, we highlight the need of further studies aiming increase understanding of NPM1 in AML.

The analyzing NPM1 variants in the AML is required to determine the clinical management for patients, due be considered as disease predictive marker. These variants occur major in the 12 exon of the gene, as well may be observed in the 5, 9 and 11 exons. Most studies have reported the A type variant as common (rs587776806, 12 exon), however other related non-A variants as in the 5 exon was associated with high pathologic recurrence in AML progression.

The identification of NPM1 variants is crucial for group stratification of the AML, however we highlight few studies with nucleotide sequencing for NPM1 gene, moreover underling the importance of mapping variants of the NPM1 gene.