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Biological and clinical consequences of NPM1 mutations in AML
- Source :
- Leukemia. 31:798-807
- Publication Year :
- 2017
- Publisher :
- Springer Science and Business Media LLC, 2017.
-
Abstract
- Acute myeloid leukemia (AML) is characterized by accumulation of myeloid cells in the bone marrow because of impaired differentiation and proliferation, resulting in hematopoietic insufficiency. NPM1 is one of the most commonly mutated genes in AML, present in 20-30% of cases. Mutations in NPM1 represent a distinct entity in the World Health Organization (WHO) classification and commonly indicate a better risk prognosis. In this review, we discuss the many functions of NPM1, the consequence of mutations in NPM1 and possible mechanisms through which mutations lead to leukemogenesis. We also discuss clinical consequences of mutations, associated gene expression patterns and the role of NPM1 mutations in informing prognosis and therapeutic decisions and predicting relapse in AML.
- Subjects :
- 0301 basic medicine
Cancer Research
medicine.medical_specialty
NPM1
Neoplasm, Residual
Myeloid
Clinical Decision-Making
Biology
medicine.disease_cause
03 medical and health sciences
0302 clinical medicine
Gene Frequency
Recurrence
hemic and lymphatic diseases
Internal medicine
Biomarkers, Tumor
medicine
Humans
Protein Interaction Domains and Motifs
Mutation
Hematology
Gene Expression Regulation, Leukemic
Nuclear Proteins
Myeloid leukemia
Epistasis, Genetic
Prognosis
medicine.disease
Leukemia, Myeloid, Acute
Haematopoiesis
Leukemia
Cell Transformation, Neoplastic
030104 developmental biology
medicine.anatomical_structure
Oncology
030220 oncology & carcinogenesis
Immunology
Cancer research
Bone marrow
Nucleophosmin
Protein Processing, Post-Translational
Protein Binding
Subjects
Details
- ISSN :
- 14765551 and 08876924
- Volume :
- 31
- Database :
- OpenAIRE
- Journal :
- Leukemia
- Accession number :
- edsair.doi.dedup.....edff2d612c18927b6f5a2efe04ba904e