Overview

Gene Location [1]
5q35.1
Pathway
DNA damage/repair
Gene
NPM1

NPM1 Mutation is present in 0.34% of AACR GENIE cases, with acute myeloid leukemia, lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, and cutaneous melanoma having the greatest prevalence [4].

Top Disease Cases with NPM1 Mutation

Significance of NPM1 Mutation in Diseases

Acute Myeloid Leukemia +

Malignant Solid Tumor +

Myelodysplastic Syndromes +

Prostate Adenocarcinoma +

Acute Lymphoblastic Leukemia +

Prostate Carcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Colorectal Carcinoma +

Non-Hodgkin Lymphoma +

Cervical Carcinoma +

Primary Peritoneal Carcinoma +

Acute Leukemia +

Endometrial Carcinoma +

Urothelial Carcinoma +

Non-Small Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Cholangiocarcinoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Adenocarcinoma Of The Gastroesophageal Junction +

Chronic Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Fallopian Tube Carcinoma +

Hodgkin Lymphoma +

Mantle Cell Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Secondary Acute Myeloid Leukemia +

Mixed Phenotype Acute Leukemia +

Anal Carcinoma +

Uveal Melanoma +

Bladder Carcinoma +

Bladder Urothelial Carcinoma +

Malignant Intestinal Neoplasm +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

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

Malignant Esophagogastric Neoplasm +

Mature T-Cell And NK-Cell Neoplasm +

Small Cell Lung Carcinoma +

Diffuse Large B-Cell Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Clear Cell Renal Cell Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Esophageal Carcinoma +

Malignant Ovarian Epithelial Tumor +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Soft Tissue Sarcoma +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Acute Promyelocytic Leukemia +

Ampulla Of Vater Carcinoma +

B-Cell Acute Lymphoblastic Leukemia +

Chronic Lymphocytic Leukemia +

Gastrointestinal Stromal Tumor +

Histiocytic And Dendritic Cell Neoplasm +

Malignant Small Intestinal Neoplasm +

Mesothelioma +

Multiple Myeloma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Penile Carcinoma +

Primary Myelofibrosis +

T-Cell Acute Lymphoblastic Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Vaginal Carcinoma +

Vulvar Carcinoma +

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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.