The assay is used to detect the NPM1 gene mutations in AML patients. The Nucleophosmin gene encodes for a ubiquitous multifunctional protein. The gene is also involved in chromosomal translocations resulting in fusions of its N-terminus in some leukaemias. Mutations in the NPM gene (exon 12 and 11) have been observed in 35% of AMLs and predominantly in AML patients with normal karyotype. The mutation NPM1 is often associated with FLT3 ITD mutations.
AML patients harbouring mutated NPM tended to have an improved prognosis compared to patients who do not possess the mutation and patients with a dual mutation with FLT3 ITD.
Synonyms or keywords:
FLT3, NPM1, Nucleophosmin, AML, MDS, Haematological Malignancies.