NPM1

Primary Author(s)*

Dr Kay Weng Choy MBBS, BMedSci, FAACB, Monash Health

Synonyms

Nucleophosmin 1, Nucleolar Phosphoprotein B23, Nucleolar Protein NO38, Numatri

Genomic Location

Cytoband: 5q35.1

Genomic Coordinates:

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chr5:170,814,120-170,838,141 (GRCh37/hg19)

chr5:171,387,116-171,411,137 (GRCh38/hg38)

Cancer Category/Type

Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms

Acute Myeloid Leukemia (AML) with Mutated NPM1

Gene Overview

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Common Alteration Types

Put your text here and/or fill in the table with an X where applicable

Copy Number Loss	Copy Number Gain	LOH	Loss-of-Function Mutation	Gain-of-Function Mutation	Translocation/Fusion
EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X

Internal Pages

Acute Myeloid Leukemia (AML) with Mutated NPM1

External Links

NPM1 by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information

NPM1 by COSMIC - sequence information, expression, catalogue of mutations

NPM1 by CIViC - general knowledge and evidence-based variant specific information

NPM1 by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs

NPM1 by Cancer Genetics Web - gene, pathway, publication information matched to cancer type

NPM1 by OncoKB - mutational landscape, mutation effect, variant classification

NPM1 by My Cancer Genome - brief gene overview

NPM1 by UniProt - protein and molecular structure and function

NPM1 by Pfam - gene and protein structure and function information

NPM1 by GeneCards - general gene information and summaries

References

1. Federici L, Falini B, (2013). Nucleophosmin mutations in acute myeloid leukemia: a tale of protein unfolding and mislocalization. Protein Sci 22(5):545-556. PMID 23436734.

2. Okuda M, et al., (2000). Nucleophosmin/B23 is a target of CDK2/cyclin E in centrosome duplication. Cell 103(1):127-140. PMID11051553.

3. Yu Y, et al., (2006). Nucleophosmin is essential for ribosomal protein L5 nuclear export. Mol Cell Biol 26(10): 3798-3809. PMID 16648475.

4. Heath EM, et al., (2017). Biological and clinical consequences of NPM1 mutations in AML. Leukemia 31(4):798-807. PMID 28111462.

5. Colombo E, et al., (2002). Nucleophosmin regulates the stability and transcriptional activity of p53. Nat Cell Biol 4(7):529-533. PMID 12080348.

6. Kurki S, et al., (2004). Nucleolar protein NPM interacts with HDM2 and protects tumor suppressor protein p53 from HDM2-mediated degradation. Cancer Cell 5(5):465-475. PMID 15144954.

7. Bertwistle D, et al., (2004). Physical and functional interactions of the Arf tumor suppressor protein with nucleophosmin/B23. Mol Cell Biol 24(3):985-996. PMID 14729947.

8. Weber JD, et al., (1999). Nucleolar Arf sequesters Mdm2 and activates p53. Nat Cell Biol 1(1):20-26. PMID 10559859.

9. Li Z, et al., (2008). Nucleophosmin interacts directly with c-Myc and controls c-Myc-induced hyperproliferation and transformation. Proc Natl Acad Sci USA 105(48):18794-18799. PMID 19033198.

10. Leong SM, et al., (2010). Mutant nucleophosmin deregulates cell death and myeloid differentiation through excessive caspase-6 and -8 inhibition. Blood 116(17):3286-3296. PMID 20606168.

11. Falini B, et al., (2006). Immunohistochemistry predicts nucleophosmin (NPM) mutations in acute myeloid leukemia. Blood 108(6):1999-2005. PMID 16720834.

12. Colombo E, et al., (2006). Delocalization and destabilization of the Arf tumor suppressor by the leukemia associated NPM mutant. Cancer Res 66(6):3044-3050. PMID 16540653.

13. Sportoletti P, et al., (2008). Npm1 is a haploinsufficient suppressor of myeloid and lymphoid malignancies in the mouse. Blood 111(7):3859-3862. PMID 18212245.

14. Falini B, et al., (2005). Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. N Engl J Med 352(3):254-266. PMID 15659725.

15. Döhner K, et al., (2005). Mutant nucleophosmin (NPM1) predicts favorable prognosis in younger adults with acute myeloid leukemia and normal cytogenetics: interaction with other gene mutations. Blood 106(12):3740-3746. PMID 16051734.

16. Ivey A, et al., (2016). Assessment of minimal residual disease in standard-risk AML. N Engl J Med 374(5):422-433. PMID 26789727.

Notes

*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.