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Significance of NPM1 Gene Mutations in AML

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MDPI
DOI: 10.3390/ijms221810040

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AML; NPM1; fragment analysis; FLT3; DNMT3A

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This literature review examines the significance of the NPM1 gene in acute myeloid leukaemia, including its structure, mutations, and impact on AML development. The importance of NPM1 mutations on prognosis and treatment options are discussed, as well as the guidelines recommending rapid return of screening results and suitable laboratory assays. Future developments in targeting NPM1 mutated AML are also considered.
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.

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