A novel type of NPM1 mutation characterized by multiple internal tandem repeats in a case of cytogenetically normal acute myeloid leukemia

The NPM1 gene, mapped on chromosome 5q35, encodes a nucleolar phosphoprotein composed of 294 amino acids. The NPM1 protein continuously shuttles between the nucleus and the cytoplasm (with predominant nucleolar localization) and is involved in several cellular processes, including centrosome