The human NPM1 gene is located on chromosome 5q35 and is composed of 12 exons . It encodes at least two isoforms:
NPM1 is a multifunctional protein involved in several biological processes:
NPM1 is frequently overexpressed, mutated, rearranged, and deleted in human cancers . Mutations in the NPM1 gene, leading to the expression of a cytoplasmic mutant protein (NPMc+), are the most common genetic abnormalities found in acute myeloid leukemias (AML) . AML with mutated NPM1 has distinct characteristics, including a significant association with a normal karyotype, involvement of different hematopoietic lineages, a specific gene-expression profile, and clinically, a better response to induction therapy and a favorable prognosis .