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.

What is FLT3 mutation?

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.

What is PML Rara?

Promyelocytic leukemia/retinoic acid receptor alpha or PML-RARA refers to an abnormal fusion gene sequence. It is a specific rearrangement of genetic material from two separate chromosomes (chromosomal translocation) and is associated with a specific type of leukemia.

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.

Is RUNX1 hereditary?

The RUNX1 gene was previously known as AML1 or CBFA2. FPD/AML is an inherited disorder, meaning that the mutated RUNX1 gene is passed down (inherited) from an affected parent such that patients with FPD/AML are born with the abnormal gene.

What is ASXL1 mutation?

ASXL1 mutations are frameshift and nonsense mutations that are supposed to result in C-terminal truncation of the protein upstream of the PHD finger (Figure 1). The functional relevance of some reported missense mutations is not clear.

How common is the FLT3 mutation?

Mutations in FLT3 are the most common genetic alteration in AML, identified in approximately one third of newly diagnosed patients. FLT3 internal tandem duplication mutations (FLT3-ITD) are associated with increased relapse and inferior overall survival.