Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
5q35.1
Pathway
DNA damage/repair
Protein [2]
Nucleophosmin
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 0.76% of all cancers with acute myeloid leukemia, lung adenocarcinoma, colon adenocarcinoma, myelodysplastic syndromes, and conventional glioblastoma multiforme having the greatest prevalence of alterations [3].

NPM1 GENIE Cases - Top Diseases

The most common alterations in NPM1 are NPM1 Mutation (1.00%), NPM1 Exon 12 Mutation (0.64%), NPM1 W288Cfs*12 (0.61%), NPM1 Amplification (0.08%), and NPM1 Loss (0.04%) [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 +

Prostate Adenocarcinoma +

Chronic Myeloid Leukemia +

Hodgkin Lymphoma +

Mantle Cell Lymphoma +

Multiple Myeloma +

Non-Hodgkin Lymphoma +

Prostate Carcinoma +

Acute Leukemia +

Anaplastic Large Cell Lymphoma +

Burkitt Lymphoma +

Chronic Lymphocytic Leukemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Follicular Lymphoma +

Marginal Zone Lymphoma +

Ovarian Carcinoma +

Urothelial Carcinoma +

Breast Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Cervical Carcinoma +

Diffuse Large B-Cell Lymphoma +

Lymphoma +

Lymphoplasmacytic Lymphoma +

Mature T-Cell And NK-Cell Neoplasm +

Myelodysplastic/Myeloproliferative Neoplasm +

Myelofibrosis +

Myeloproliferative Neoplasm +

Primary Peritoneal Carcinoma +

Refractory Anemia With Excess Blasts +

Refractory Anemia With Excess Blasts-2 +

Endometrial Carcinoma +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Cholangiocarcinoma +

Chronic Myelomonocytic Leukemia-1 +

Fallopian Tube Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Lymphoblastic Lymphoma +

Mixed Phenotype Acute Leukemia +

Primary Myelofibrosis +

Prolymphocytic Leukemia +

Small Cell Lung Carcinoma +

Bladder Carcinoma +

Bladder Urothelial Carcinoma +

Malignant Intestinal Neoplasm +

Lung Adenocarcinoma +

Malignant Esophagogastric Neoplasm +

Malignant Ovarian Epithelial Tumor +

Acute Biphenotypic Leukemia +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Acute Promyelocytic Leukemia +

Adenocarcinoma Of The Gastroesophageal Junction +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

B-Cell Acute Lymphoblastic Leukemia +

B-Cell Prolymphocytic Leukemia +

Blastic Plasmacytoid Dendritic Cell Neoplasm +

Chronic Myelomonocytic Leukemia-0 +

Clear Cell Renal Cell Carcinoma +

Esophageal Carcinoma +

Gastric Carcinoma +

Gastrointestinal Stromal Tumor +

Hematopoietic And Lymphoid Malignancy +

Hepatocellular Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Kidney Carcinoma +

Malignant Gastric Neoplasm +

Malignant Small Intestinal Neoplasm +

Mature B-Cell Lymphoma/Leukemia +

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

Mediastinal Large B-Cell Lymphoma +

Mesothelioma +

Myeloid Sarcoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Penile Carcinoma +

Plasma Cell Leukemia +

Refractory Anemia +

Refractory Anemia With Excess Blasts-1 +

Refractory Anemia With Ring Sideroblasts +

Richter Syndrome +

Secondary Myelodysplastic Syndrome +

Small Lymphocytic Leukemia +

Soft Tissue Sarcoma +

Squamous Cell Lung Carcinoma +

T-Cell Acute Lymphoblastic Leukemia +

T-Cell Lymphoblastic Leukemia/Lymphoma +

T-Cell Non-Hodgkin Lymphoma +

T-Cell And NK-Cell Neoplasm +

Therapy-Related Myeloid Neoplasm +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20171026. 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 6. 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.