NPM1 Gene

NPM1 (NPM1 is the acronym for "Nucleophosmin 1") is a protein-coding gene located on chromosome 5q35.1. The protein encoded by this gene is involved in several cellular processes, including centrosome duplication, protein chaperoning, and cell proliferation. The encoded phosphoprotein shuttles between the nucleolus, nucleus and cytoplasm and chaperones ribosomal proteins and nuclear histones from the nucleus to the cytoplasm. Nucleophosmin 1 sequesters the tumor suppressor ARF in the nucleolus and protects it from degradation until it is needed.

Diseases associated with NPM1 include Acute Myeloid Leukemia. Related pathways include cell cycle, mitosis, and HIF-1-alpha transcription factor network. An important paralog of this gene is NPM2.

AML with mutated NPM1 is a provisional entity in the WHO classification of AML. FLT3 mutations should be investigated in parallel in AML as they have prognostic implications. NPM1 mutations in exon 12 in the absence of FLT3 ITD are associated with a good prognosis.

1. Falini B et al (2020) NPM1-mutated acute myeloid leukemia: from bench to bedside. Blood 136:1707-1721
2. Heath EM et al (2017) Biological and clinical consequences of NPM1 mutations in AML. Leukemia 31:798-807
3. Patel SS et al (2020) NPM1 Biology in Myeloid Neoplasia. Curr Hematol Malig Rep 15:350-359.