Research Topic: Measurable Residual Disease in Hematologic Malignancies. Can digital droplet PCR improve measurable residual disease monitoring in chronic lymphoid malignancies?

Minimal/measurable residual disease (MRD) monitoring is progressively changing the management of hematologic malignancies. The possibility of detecting the persistence/reappearance of disease in patients in apparent clinical remission offers a refined risk stratification and a treatment decision mak...

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Main Authors: Giovanni Manfredi Assanto, Ilaria Del Giudice, Irene Della Starza, Roberta Soscia, Marzia Cavalli, Mattia Cola, Vittorio Bellomarino, Mariangela Di Trani, Anna Guarini, Robin Foà
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Oncology
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fonc.2023.1152467/full
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author Giovanni Manfredi Assanto
Ilaria Del Giudice
Irene Della Starza
Irene Della Starza
Roberta Soscia
Marzia Cavalli
Mattia Cola
Vittorio Bellomarino
Mariangela Di Trani
Anna Guarini
Robin Foà
author_facet Giovanni Manfredi Assanto
Ilaria Del Giudice
Irene Della Starza
Irene Della Starza
Roberta Soscia
Marzia Cavalli
Mattia Cola
Vittorio Bellomarino
Mariangela Di Trani
Anna Guarini
Robin Foà
author_sort Giovanni Manfredi Assanto
collection DOAJ
description Minimal/measurable residual disease (MRD) monitoring is progressively changing the management of hematologic malignancies. The possibility of detecting the persistence/reappearance of disease in patients in apparent clinical remission offers a refined risk stratification and a treatment decision making tool. Several molecular techniques are employed to monitor MRD, from conventional real-time quantitative polymerase chain reaction (RQ-PCR) to next generation sequencing and digital droplet PCR (ddPCR), in different tissues or compartments through the detection of fusion genes, immunoglobulin and T-cell receptor gene rearrangements or disease-specific mutations. RQ-PCR is still the gold standard for MRD analysis despite some limitations. ddPCR, considered the third-generation PCR, yields a direct, absolute, and accurate detection and quantification of low-abundance nucleic acids. In the setting of MRD monitoring it carries the major advantage of not requiring a reference standard curve built with the diagnostic sample dilution and of allowing to reduce the number of samples below the quantitative range. At present, the broad use of ddPCR to monitor MRD in the clinical practice is limited by the lack of international guidelines. Its application within clinical trials is nonetheless progressively growing both in acute lymphoblastic leukemia as well as in chronic lymphocytic leukemia and non-Hodgkin lymphomas. The aim of this review is to summarize the accumulating data on the use of ddPCR for MRD monitoring in chronic lymphoid malignancies and to highlight how this new technique is likely to enter into the clinical practice.
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spelling doaj.art-154cdd8a16554ff688943c29eaa258df2023-03-14T04:55:05ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2023-03-011310.3389/fonc.2023.11524671152467Research Topic: Measurable Residual Disease in Hematologic Malignancies. Can digital droplet PCR improve measurable residual disease monitoring in chronic lymphoid malignancies?Giovanni Manfredi Assanto0Ilaria Del Giudice1Irene Della Starza2Irene Della Starza3Roberta Soscia4Marzia Cavalli5Mattia Cola6Vittorio Bellomarino7Mariangela Di Trani8Anna Guarini9Robin Foà10Hematology, Department of Translational and Precision Medicine, Sapienza University, Rome, ItalyHematology, Department of Translational and Precision Medicine, Sapienza University, Rome, ItalyHematology, Department of Translational and Precision Medicine, Sapienza University, Rome, ItalyGruppo Italiano Malattie Ematologiche dell'Adulto (GIMEMA), Fondazione GIMEMA Franco Mandelli Onlus, Rome, ItalyHematology, Department of Translational and Precision Medicine, Sapienza University, Rome, ItalyHematology, Department of Translational and Precision Medicine, Sapienza University, Rome, ItalyHematology, Department of Translational and Precision Medicine, Sapienza University, Rome, ItalyHematology, Department of Translational and Precision Medicine, Sapienza University, Rome, ItalyHematology, Department of Translational and Precision Medicine, Sapienza University, Rome, ItalyDepartment of Molecular Medicine, Sapienza University, Rome, ItalyHematology, Department of Translational and Precision Medicine, Sapienza University, Rome, ItalyMinimal/measurable residual disease (MRD) monitoring is progressively changing the management of hematologic malignancies. The possibility of detecting the persistence/reappearance of disease in patients in apparent clinical remission offers a refined risk stratification and a treatment decision making tool. Several molecular techniques are employed to monitor MRD, from conventional real-time quantitative polymerase chain reaction (RQ-PCR) to next generation sequencing and digital droplet PCR (ddPCR), in different tissues or compartments through the detection of fusion genes, immunoglobulin and T-cell receptor gene rearrangements or disease-specific mutations. RQ-PCR is still the gold standard for MRD analysis despite some limitations. ddPCR, considered the third-generation PCR, yields a direct, absolute, and accurate detection and quantification of low-abundance nucleic acids. In the setting of MRD monitoring it carries the major advantage of not requiring a reference standard curve built with the diagnostic sample dilution and of allowing to reduce the number of samples below the quantitative range. At present, the broad use of ddPCR to monitor MRD in the clinical practice is limited by the lack of international guidelines. Its application within clinical trials is nonetheless progressively growing both in acute lymphoblastic leukemia as well as in chronic lymphocytic leukemia and non-Hodgkin lymphomas. The aim of this review is to summarize the accumulating data on the use of ddPCR for MRD monitoring in chronic lymphoid malignancies and to highlight how this new technique is likely to enter into the clinical practice.https://www.frontiersin.org/articles/10.3389/fonc.2023.1152467/fulldigital droplet PCRmeasurable residual disease (MRD)non-Hodgkin lymphomachronic lymphocytic leukemiahairy cell leukaemia (HCL)
spellingShingle Giovanni Manfredi Assanto
Ilaria Del Giudice
Irene Della Starza
Irene Della Starza
Roberta Soscia
Marzia Cavalli
Mattia Cola
Vittorio Bellomarino
Mariangela Di Trani
Anna Guarini
Robin Foà
Research Topic: Measurable Residual Disease in Hematologic Malignancies. Can digital droplet PCR improve measurable residual disease monitoring in chronic lymphoid malignancies?
Frontiers in Oncology
digital droplet PCR
measurable residual disease (MRD)
non-Hodgkin lymphoma
chronic lymphocytic leukemia
hairy cell leukaemia (HCL)
title Research Topic: Measurable Residual Disease in Hematologic Malignancies. Can digital droplet PCR improve measurable residual disease monitoring in chronic lymphoid malignancies?
title_full Research Topic: Measurable Residual Disease in Hematologic Malignancies. Can digital droplet PCR improve measurable residual disease monitoring in chronic lymphoid malignancies?
title_fullStr Research Topic: Measurable Residual Disease in Hematologic Malignancies. Can digital droplet PCR improve measurable residual disease monitoring in chronic lymphoid malignancies?
title_full_unstemmed Research Topic: Measurable Residual Disease in Hematologic Malignancies. Can digital droplet PCR improve measurable residual disease monitoring in chronic lymphoid malignancies?
title_short Research Topic: Measurable Residual Disease in Hematologic Malignancies. Can digital droplet PCR improve measurable residual disease monitoring in chronic lymphoid malignancies?
title_sort research topic measurable residual disease in hematologic malignancies can digital droplet pcr improve measurable residual disease monitoring in chronic lymphoid malignancies
topic digital droplet PCR
measurable residual disease (MRD)
non-Hodgkin lymphoma
chronic lymphocytic leukemia
hairy cell leukaemia (HCL)
url https://www.frontiersin.org/articles/10.3389/fonc.2023.1152467/full
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