Biomarkers in acute myeloid leukemia: From state of the art in risk classification to future challenges of RNA editing as disease predictor and therapy target

Acute Myeloid Leukemia (AML) is currently diagnosed based on morphological assessment of myeloid cells’ features, immunophenotypic characterization of specific cell surface and intracellular markers, conventional cytogenetic testing and screening for genetic abnormalities in bone marrow and peripher...

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Main Authors: Alberto Quattrocchi, Luca Vincenzo Cappelli, Giovanna De Simone, Elisabetta De Marinis, Martina Gentile, Tecla Gasperi, Alessandro Pulsoni, Paolo Ascenzi, Clara Nervi
Format: Article
Language:English
Published: Elsevier 2023-12-01
Series:Aspects of Molecular Medicine
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2949688823000230
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author Alberto Quattrocchi
Luca Vincenzo Cappelli
Giovanna De Simone
Elisabetta De Marinis
Martina Gentile
Tecla Gasperi
Alessandro Pulsoni
Paolo Ascenzi
Clara Nervi
author_facet Alberto Quattrocchi
Luca Vincenzo Cappelli
Giovanna De Simone
Elisabetta De Marinis
Martina Gentile
Tecla Gasperi
Alessandro Pulsoni
Paolo Ascenzi
Clara Nervi
author_sort Alberto Quattrocchi
collection DOAJ
description Acute Myeloid Leukemia (AML) is currently diagnosed based on morphological assessment of myeloid cells’ features, immunophenotypic characterization of specific cell surface and intracellular markers, conventional cytogenetic testing and screening for genetic abnormalities in bone marrow and peripheral blood specimens. In recent years new technologies have shed light on the complexity and heterogeneity of this elusive leukemia and are providing useful biomarkers, predictive of prognosis in AML patients. Hence, technological efforts are being made in order to identify more accurate AML biomarkers also useful to track minimal residual disease at the various follow-up times. This remains an unmet need that, together with the intrinsic tumor features of AML, results in the highest death rate of all leukemias and a 5-year overall survival <50%. This review provides insights into the state-of-the-art of AML-related biomarkers and their role in clinical practice as prognostic indicators, minimal residual disease detection or candidates for targeted therapy. In addition, we report modifications of RNA epitranscriptome during normal hematopoiesis that are de-regulated in AML, recently revealed by new and more sophisticated techniques. We focus on alterations of m6A modifications on mRNAs and of enzymes catalyzing them, which have been reported to affect normal hematopoiesis and leukemogenesis and are providing novel promising biomarkers for AML risk assessment and newly druggable targets for treatment.
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spelling doaj.art-577c7d6a7f1847548268c6dd2f2854bd2024-03-28T06:39:49ZengElsevierAspects of Molecular Medicine2949-68882023-12-012100023Biomarkers in acute myeloid leukemia: From state of the art in risk classification to future challenges of RNA editing as disease predictor and therapy targetAlberto Quattrocchi0Luca Vincenzo Cappelli1Giovanna De Simone2Elisabetta De Marinis3Martina Gentile4Tecla Gasperi5Alessandro Pulsoni6Paolo Ascenzi7Clara Nervi8Department of Medical-Surgical Sciences and Biotechnologies, University “La Sapienza'', Rome, ItalyHematology, Department of Translational and Precision Medicine, University “La Sapienza'', Rome, ItalyDepartment of Sciences, Roma Tre University, Rome, ItalyDepartment of Medical-Surgical Sciences and Biotechnologies, University “La Sapienza'', Rome, ItalyDepartment of Medical-Surgical Sciences and Biotechnologies, University “La Sapienza'', Rome, ItalyDepartment of Sciences, Roma Tre University, Rome, ItalyHematology, Department of Translational and Precision Medicine, University “La Sapienza'', Rome, Italy; Department of Hematology, S.M. Goretti Hospital, Polo Universitario Pontino, 04100, Latina, ItalyDepartment of Sciences, Roma Tre University, Rome, Italy; Accademia Nazionale Dei Lincei, Rome, ItalyDepartment of Medical-Surgical Sciences and Biotechnologies, University “La Sapienza'', Rome, Italy; Corresponding author.Acute Myeloid Leukemia (AML) is currently diagnosed based on morphological assessment of myeloid cells’ features, immunophenotypic characterization of specific cell surface and intracellular markers, conventional cytogenetic testing and screening for genetic abnormalities in bone marrow and peripheral blood specimens. In recent years new technologies have shed light on the complexity and heterogeneity of this elusive leukemia and are providing useful biomarkers, predictive of prognosis in AML patients. Hence, technological efforts are being made in order to identify more accurate AML biomarkers also useful to track minimal residual disease at the various follow-up times. This remains an unmet need that, together with the intrinsic tumor features of AML, results in the highest death rate of all leukemias and a 5-year overall survival <50%. This review provides insights into the state-of-the-art of AML-related biomarkers and their role in clinical practice as prognostic indicators, minimal residual disease detection or candidates for targeted therapy. In addition, we report modifications of RNA epitranscriptome during normal hematopoiesis that are de-regulated in AML, recently revealed by new and more sophisticated techniques. We focus on alterations of m6A modifications on mRNAs and of enzymes catalyzing them, which have been reported to affect normal hematopoiesis and leukemogenesis and are providing novel promising biomarkers for AML risk assessment and newly druggable targets for treatment.http://www.sciencedirect.com/science/article/pii/S2949688823000230HematopoiesisLeukemiaAML biomarkersAML risk classificationMinimal residual disease detectionEpitranscriptome
spellingShingle Alberto Quattrocchi
Luca Vincenzo Cappelli
Giovanna De Simone
Elisabetta De Marinis
Martina Gentile
Tecla Gasperi
Alessandro Pulsoni
Paolo Ascenzi
Clara Nervi
Biomarkers in acute myeloid leukemia: From state of the art in risk classification to future challenges of RNA editing as disease predictor and therapy target
Aspects of Molecular Medicine
Hematopoiesis
Leukemia
AML biomarkers
AML risk classification
Minimal residual disease detection
Epitranscriptome
title Biomarkers in acute myeloid leukemia: From state of the art in risk classification to future challenges of RNA editing as disease predictor and therapy target
title_full Biomarkers in acute myeloid leukemia: From state of the art in risk classification to future challenges of RNA editing as disease predictor and therapy target
title_fullStr Biomarkers in acute myeloid leukemia: From state of the art in risk classification to future challenges of RNA editing as disease predictor and therapy target
title_full_unstemmed Biomarkers in acute myeloid leukemia: From state of the art in risk classification to future challenges of RNA editing as disease predictor and therapy target
title_short Biomarkers in acute myeloid leukemia: From state of the art in risk classification to future challenges of RNA editing as disease predictor and therapy target
title_sort biomarkers in acute myeloid leukemia from state of the art in risk classification to future challenges of rna editing as disease predictor and therapy target
topic Hematopoiesis
Leukemia
AML biomarkers
AML risk classification
Minimal residual disease detection
Epitranscriptome
url http://www.sciencedirect.com/science/article/pii/S2949688823000230
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