What is the NPM1 gene?
What is the NPM1 gene?
The NPM1 gene provides instructions for making a protein called nucleophosmin, which is found in a small region inside the nucleus of the cell called the nucleolus. Nucleophosmin shuttles back and forth between the nucleus and the fluid surrounding it (the cytoplasm).
What is FLT3 mutation?
FLT3 is a gene change, or mutation, in leukemia cells. Between 20 and 30 percent of people with AML have this mutation. The FLT3 gene codes for a protein called FLT3 that helps white blood cells grow. A mutation in this gene encourages the growth of too many abnormal leukemia cells.
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 chromosome is NPM1 on?
Gene organization and evolutionary history. Human NPM1 is located on chromosome 5q35 and is composed of 12 exons, encoding for at least two isoforms (Fig. 2a) [1].
Where is NPM1?
Nucleophosmin (NPM), also called nucleolar protein B23, numatrin, or NO38, is an abundant phosphoprotein that is ubiquitously expressed and highly conserved. The nucleophosmin gene (NPM1) is located on chromosome 5q35 and contains 12 exons8.
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.
What is NPM1 mutation 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).
How are mutations detected in NPM1?
There are highly specific and sensitive molecular assays available for detecting NPM1 mutations, like Sanger sequencing, high-resolution melting curve analysis, real-time polymerase chain reaction (PCR), and pyrosequencing (Pyr).
