Significance of NPM1 Gene Mutations in AML |
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| Authors: | Andrew Hindley Mark Alexander Catherwood Mary Frances McMullin Ken I Mills |
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| Affiliation: | 1.Clinical Haematology, Belfast City Hospital, Belfast BT9 7AB, UK;2.Centre for Medical Education, Queen’s University Belfast, Belfast BT7 1NN, UK;3.Northern Ireland and Belfast Health and Social Care Trust, Belfast BT9 7AB, UK;4.Patrick G Johnston Center for Cancer Research, Queens University Belfast, Belfast BT9 7AE, UK; |
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| Abstract: | 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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| Keywords: | AML NPM1 fragment analysis FLT3 DNMT3A |
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