What is NPM1 mutation?
Mutations in the NPM1 gene are involved in a form of blood cell cancer known as cytogenetically normal acute myeloid leukemia (CN-AML). While large chromosomal abnormalities can be involved in the development of acute myeloid leukemia, about half of cases do not have these abnormalities; these are classified as CN-AML.
How I treat NPM1 positive AML?
The identification of new molecular subtypes within NPM1-mutated AML patients is relevant in the prediction of treatment response and outcome. Currently, most patients with a NPM1 mutation and without a FLT3-ITD mutation, are treated with conventional induction and consolidation chemotherapy.
Where is NPM1?
the nucleolus
The nucleophosmin gene (NPM1) is located on chromosome 5q35 and contains 12 exons8. The encoded protein is localized primarily in the nucleolus, but shuttles rapidly between the nucleus and cytoplasm9. NPM has been shown to play an important role in many basic cellular processes.
What is the most common mutation in AML?
The most common mutation is a 4 base pair insertion. NPM1 mutations are found in about 30% of all AML and 50%–60% of AML with a normal karyotype making it the most common genetic mutation in AML [3].
Which finding is associated with a worse prognosis in AML with NPM1 mutation?
These data suggest that NPM1 mutations confer a favorable risk only in the absence of any adverse risk features. In fact, among patients with NPM1-mutant AML, the presence of adverse cytogenetics seems to yield an even worse prognosis than a concomitant FLT3-ITD mutation.
What is FLT3 mutation in AML?
FLT3 is a gene change, or mutation, in leukemia (blood cancer) cells. It’s the most common genetic change in acute myeloid leukemia (AML), a type of leukemia that starts in the bone marrow and often moves into the blood. The FLT3 gene contains instructions for a protein called FLT3, which helps white blood cells grow.
Can FLT3 mutation be cured?
In fact, FLT3 turned out to be the most frequently mutated gene in acute myeloid leukemia. About one-third of patients diagnosed had the mutation— an alteration that made it almost impossible to cure them.
How common is FLT3 mutation?
30% to 35% of patients with acute myeloid leukemia (AML) carry the FLT3 gene mutation. Although it’s the most common mutation linked to AML, it’s also more difficult to treat.
What is NPM1 AML?
Introduction. The nucleophosmin (NPM1) gene encodes for a ubiquitous multifunctional shuttling protein1 with predominant nucleolar localization. NPM1 is the most commonly mutated gene in adult acute myeloid leukemia (AML; ∼30% of cases).
What is a common myeloid blast Immunophenotype in AML with NPM1 mutation?
The most common blast phenotype in myeloid AML-NPM1 was a CD34−/HLA-DR− phenotype (69 [49%] of 141).