Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

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

Version 1 : Received: 17 May 2023 / Approved: 17 May 2023 / Online: 17 May 2023 (14:36:39 CEST)

A peer-reviewed article of this Preprint also exists.

Testa, U.; Pelosi, E.; Castelli, G. Genetic, Phenotypic, and Clinical Heterogeneity of NPM1-Mutant Acute Myeloid Leukemias. Biomedicines 2023, 11, 1805. Testa, U.; Pelosi, E.; Castelli, G. Genetic, Phenotypic, and Clinical Heterogeneity of NPM1-Mutant Acute Myeloid Leukemias. Biomedicines 2023, 11, 1805.

Abstract

The current classification of acute myeloid leukemia (AML) relies largely on genomic alterations. AML with mutated Nucleophosmin1 (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

Subject

Biology and Life Sciences, Life Sciences

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