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Volume 11
Issue 7
10.3390/biomedicines11071805
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Review

Genetic, Phenotypic, and Clinical Heterogeneity of NPM1-Mutant Acute Myeloid Leukemias

by
Ugo Testa
*,
Elvira Pelosi
and
Germana Castelli
Department of Oncology, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy
*
Author to whom correspondence should be addressed.
Biomedicines 2023, 11(7), 1805; https://doi.org/10.3390/biomedicines11071805
Submission received: 16 May 2023 / Revised: 13 June 2023 / Accepted: 21 June 2023 / Published: 24 June 2023
(This article belongs to the Special Issue Cancer Heterogeneity: Biomarkers and Targeted Therapies)
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Abstract

The current classification of acute myeloid leukemia (AML) relies largely on genomic alterations. AML with mutated nucleophosmin 1 (NPM1-mut) is the largest of the genetically defined groups, involving about 30% of adult AMLs and is currently recognized as a distinct entity in the actual AML classifications. NPM1-mut AML usually occurs in de novo AML and is associated predominantly with a normal karyotype and relatively favorable prognosis. However, NPM1-mut AMLs are genetically, transcriptionally, and phenotypically heterogeneous. Furthermore, NPM1-mut is a clinically heterogenous group. Recent studies have in part clarified the consistent heterogeneities of these AMLs and have strongly supported the need for an additional stratification aiming to improve the therapeutic response of the different subgroups of NPM1-mut AML patients.
Keywords: acute myeloid leukemia; genetic classification; mutational profiling; transcriptome analysis; prognostic stratification; clonal evolution acute myeloid leukemia; genetic classification; mutational profiling; transcriptome analysis; prognostic stratification; clonal evolution

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MDPI and ACS Style

Testa, U.; Pelosi, E.; Castelli, G. Genetic, Phenotypic, and Clinical Heterogeneity of NPM1-Mutant Acute Myeloid Leukemias. Biomedicines 2023, 11, 1805. https://doi.org/10.3390/biomedicines11071805

AMA Style

Testa U, Pelosi E, Castelli G. Genetic, Phenotypic, and Clinical Heterogeneity of NPM1-Mutant Acute Myeloid Leukemias. Biomedicines. 2023; 11(7):1805. https://doi.org/10.3390/biomedicines11071805

Chicago/Turabian Style

Testa, Ugo, Elvira Pelosi, and Germana Castelli. 2023. "Genetic, Phenotypic, and Clinical Heterogeneity of NPM1-Mutant Acute Myeloid Leukemias" Biomedicines 11, no. 7: 1805. https://doi.org/10.3390/biomedicines11071805

APA Style

Testa, U., Pelosi, E., & Castelli, G. (2023). Genetic, Phenotypic, and Clinical Heterogeneity of NPM1-Mutant Acute Myeloid Leukemias. Biomedicines, 11(7), 1805. https://doi.org/10.3390/biomedicines11071805

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