Novel Tools for Diagnosis and Monitoring of AML

In recent years, major advances in the understanding of acute myeloid leukemia (AML) pathogenesis, together with technological progress, have led us into a new era in the diagnosis and follow-up of patients with AML. A combination of immunophenotyping, cytogenetic and molecular studies are required...

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Main Authors: Francesca Guijarro, Marta Garrote, Neus Villamor, Dolors Colomer, Jordi Esteve, Mónica López-Guerra
Format: Article
Language:English
Published: MDPI AG 2023-05-01
Series:Current Oncology
Subjects:
Online Access:https://www.mdpi.com/1718-7729/30/6/395
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author Francesca Guijarro
Marta Garrote
Neus Villamor
Dolors Colomer
Jordi Esteve
Mónica López-Guerra
author_facet Francesca Guijarro
Marta Garrote
Neus Villamor
Dolors Colomer
Jordi Esteve
Mónica López-Guerra
author_sort Francesca Guijarro
collection DOAJ
description In recent years, major advances in the understanding of acute myeloid leukemia (AML) pathogenesis, together with technological progress, have led us into a new era in the diagnosis and follow-up of patients with AML. A combination of immunophenotyping, cytogenetic and molecular studies are required for AML diagnosis, including the use of next-generation sequencing (NGS) gene panels to screen all genetic alterations with diagnostic, prognostic and/or therapeutic value. Regarding AML monitoring, multiparametric flow cytometry and quantitative PCR/RT-PCR are currently the most implemented methodologies for measurable residual disease (MRD) evaluation. Given the limitations of these techniques, there is an urgent need to incorporate new tools for MRD monitoring, such as NGS and digital PCR. This review aims to provide an overview of the different technologies used for AML diagnosis and MRD monitoring and to highlight the limitations and challenges of current versus emerging tools.
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spelling doaj.art-9d0f82e0ca4d402d82dbf88e4e70ed4d2023-11-18T09:57:35ZengMDPI AGCurrent Oncology1198-00521718-77292023-05-013065201521310.3390/curroncol30060395Novel Tools for Diagnosis and Monitoring of AMLFrancesca Guijarro0Marta Garrote1Neus Villamor2Dolors Colomer3Jordi Esteve4Mónica López-Guerra5Hematopathology Section, Pathology Department, Hospital Clinic Barcelona, 08036 Barcelona, SpainHematopathology Section, Pathology Department, Hospital Clinic Barcelona, 08036 Barcelona, SpainHematopathology Section, Pathology Department, Hospital Clinic Barcelona, 08036 Barcelona, SpainHematopathology Section, Pathology Department, Hospital Clinic Barcelona, 08036 Barcelona, SpainInstitut d’Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), 08036 Barcelona, SpainHematopathology Section, Pathology Department, Hospital Clinic Barcelona, 08036 Barcelona, SpainIn recent years, major advances in the understanding of acute myeloid leukemia (AML) pathogenesis, together with technological progress, have led us into a new era in the diagnosis and follow-up of patients with AML. A combination of immunophenotyping, cytogenetic and molecular studies are required for AML diagnosis, including the use of next-generation sequencing (NGS) gene panels to screen all genetic alterations with diagnostic, prognostic and/or therapeutic value. Regarding AML monitoring, multiparametric flow cytometry and quantitative PCR/RT-PCR are currently the most implemented methodologies for measurable residual disease (MRD) evaluation. Given the limitations of these techniques, there is an urgent need to incorporate new tools for MRD monitoring, such as NGS and digital PCR. This review aims to provide an overview of the different technologies used for AML diagnosis and MRD monitoring and to highlight the limitations and challenges of current versus emerging tools.https://www.mdpi.com/1718-7729/30/6/395AMLdiagnosisMRD monitoringflow cytometryNGSdigital PCR
spellingShingle Francesca Guijarro
Marta Garrote
Neus Villamor
Dolors Colomer
Jordi Esteve
Mónica López-Guerra
Novel Tools for Diagnosis and Monitoring of AML
Current Oncology
AML
diagnosis
MRD monitoring
flow cytometry
NGS
digital PCR
title Novel Tools for Diagnosis and Monitoring of AML
title_full Novel Tools for Diagnosis and Monitoring of AML
title_fullStr Novel Tools for Diagnosis and Monitoring of AML
title_full_unstemmed Novel Tools for Diagnosis and Monitoring of AML
title_short Novel Tools for Diagnosis and Monitoring of AML
title_sort novel tools for diagnosis and monitoring of aml
topic AML
diagnosis
MRD monitoring
flow cytometry
NGS
digital PCR
url https://www.mdpi.com/1718-7729/30/6/395
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AT martagarrote noveltoolsfordiagnosisandmonitoringofaml
AT neusvillamor noveltoolsfordiagnosisandmonitoringofaml
AT dolorscolomer noveltoolsfordiagnosisandmonitoringofaml
AT jordiesteve noveltoolsfordiagnosisandmonitoringofaml
AT monicalopezguerra noveltoolsfordiagnosisandmonitoringofaml