Biomarkers /
NPM1
Overview
Nucleophosmin (NPM1, also known as nuclear phosphoprotein B23, numatrin) is a gene that encodes a phosphoprotein, which is involved in the regulation of the interactions of ARF and p53. Fusions, missense mutations, nonsense mutations, frameshift insertions and deletions, and in-frame deletions and insertions are observed in cancers such as acute myeloid leukemia and skin cancer.
NPM1 is altered in 0.99% of all cancers with acute myeloid leukemia, acute myeloid leukemia with mutated NPM1, lung adenocarcinoma, colon adenocarcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].
The most common alterations in NPM1 are NPM1 Mutation (0.34%), NPM1 Exon 12 Mutation (0.11%), NPM1 Amplification (0.10%), NPM1 L287delinsPV (2.19%), and NPM1 Loss (0.05%) [3].
Clinical Trials
Significance of NPM1 in Diseases
References
1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.
4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.