Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


Location [1]
DNA damage/repair
Protein [2]
Synonyms [1]
B23, NPM

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].

NPM1 GENIE Cases - Top Diseases

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].

NPM1 GENIE Cases - Top Alterations

Significance of NPM1 in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myelomonocytic Leukemia +

Malignant Solid Tumor +

Chronic Myeloid Leukemia +

Prostate Adenocarcinoma +

Hodgkin Lymphoma +

Non-Hodgkin Lymphoma +

Mantle Cell Lymphoma +

Multiple Myeloma +

Acute Leukemia +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Refractory Anemia With Excess Blasts +

Myelodysplastic/Myeloproliferative Neoplasm +

Prostate Carcinoma +

Anaplastic Large Cell Lymphoma +

Mixed Phenotype Acute Leukemia +

Myelofibrosis +

Follicular Lymphoma +

Burkitt Lymphoma +

Marginal Zone Lymphoma +

Secondary Acute Myeloid Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myeloproliferative Neoplasm +

Breast Carcinoma +

Ovarian Carcinoma +

Acute Biphenotypic Leukemia +

Chronic Lymphocytic Leukemia +

Colorectal Carcinoma +

Diffuse Large B-Cell Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Cervical Carcinoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Lymphoplasmacytic Lymphoma +

Primary Peritoneal Carcinoma +

Secondary Myelodysplastic Syndrome +

Therapy-Related Myelodysplastic Syndrome +

Chronic Myelomonocytic Leukemia-1 +

Endometrial Carcinoma +

Urothelial Carcinoma +

Non-Small Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Mature T-Cell And NK-Cell Neoplasm +

Lymphoma +

Acute Promyelocytic Leukemia +

Acute Undifferentiated Leukemia +

Adenocarcinoma Of The Gastroesophageal Junction +

B-Cell Acute Lymphoblastic Leukemia +

Blastic Plasmacytoid Dendritic Cell Neoplasm +

Fallopian Tube Carcinoma +

Lymphoblastic Lymphoma +

Plasma Cell Leukemia +

Prolymphocytic Leukemia +

Myeloid Neoplasm +

Chronic Myelomonocytic Leukemia-2 +

Hematopoietic And Lymphoid Malignancy +

Refractory Anemia With Ring Sideroblasts +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Systemic Mastocytosis +

Primary Myelofibrosis +

Therapy-Related Myeloid Neoplasm +

Anal Carcinoma +

Small Cell Lung Carcinoma +

Bladder Carcinoma +

Bladder Urothelial Carcinoma +

Malignant Intestinal Neoplasm +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

T-Cell Non-Hodgkin Lymphoma +

Esophageal Carcinoma +

Malignant Esophagogastric Neoplasm +

T-Cell And NK-Cell Neoplasm +

High Grade Ovarian Serous Adenocarcinoma +

Cholangiocarcinoma +

Malignant Ovarian Epithelial Tumor +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Soft Tissue Sarcoma +

Acute Bilineal Leukemia +

Aggressive Non-Hodgkin Lymphoma +

Ampulla Of Vater Carcinoma +

Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative +

B-Cell Prolymphocytic Leukemia +

Chronic Myelomonocytic Leukemia-0 +

Gastrointestinal Stromal Tumor +

Histiocytic And Dendritic Cell Neoplasm +

Malignant Small Intestinal Neoplasm +

Mature B-Cell Lymphoma/Leukemia +

Mediastinal Large B-Cell Lymphoma +

Myelodysplastic Syndrome With Excess Blasts-1 +

NK-Cell Lymphoma, Unclassifiable +

Penile Carcinoma +

Refractory Anemia +

Richter Syndrome +

Small Lymphocytic Leukemia +

T-Cell Acute Lymphoblastic Leukemia +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Vaginal Carcinoma +

Vulvar Carcinoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

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.