Antigen Receptors Gene Analysis for Minimal Residual Disease Detection in Acute Lymphoblastic Leukemia: The Role of High Throughput Sequencing

The prognosis of adult acute lymphoblastic leukemia (ALL) is variable but more often dismal. Indeed, its clinical management is challenging, current therapies inducing complete remission in 65–90% of cases, but only 30–40% of patients being cured. The major determinant of treatment failure is relaps...

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Main Authors: Pier Paolo Piccaluga, Stefania Paolini, Giuseppe Visani
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:Hemato
Subjects:
Online Access:https://www.mdpi.com/2673-6357/4/1/4
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author Pier Paolo Piccaluga
Stefania Paolini
Giuseppe Visani
author_facet Pier Paolo Piccaluga
Stefania Paolini
Giuseppe Visani
author_sort Pier Paolo Piccaluga
collection DOAJ
description The prognosis of adult acute lymphoblastic leukemia (ALL) is variable but more often dismal. Indeed, its clinical management is challenging, current therapies inducing complete remission in 65–90% of cases, but only 30–40% of patients being cured. The major determinant of treatment failure is relapse; consequently, measurement of residual leukemic blast (minimal residual disease, MRD) has become a powerful independent prognostic indicator in adults. Numerous evidences have also supported the clinical relevance of MRD assessment for risk class assignment and treatment selection. MRD can be virtually evaluated in all ALL patients using different technologies, such as polymerase chain reaction amplification of fusion transcripts and clonal rearrangements of antigen receptor genes, flow cytometric study of leukemic immunophenotypes and, the most recent, high throughput sequencing (HTS). In this review, the authors focused on the latest developments on MRD monitoring with emphasis on the use of HTS, as well as on the clinical impact of MRD monitoring.
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spelling doaj.art-d3019bc2832b46189845ecba1a59e4742023-11-17T11:22:21ZengMDPI AGHemato2673-63572023-01-0141425510.3390/hemato4010004Antigen Receptors Gene Analysis for Minimal Residual Disease Detection in Acute Lymphoblastic Leukemia: The Role of High Throughput SequencingPier Paolo Piccaluga0Stefania Paolini1Giuseppe Visani2Biobank of Research and Institute of Hematology and Medical Oncology “L. and A. Seràgnoli”, IRCCS Azienda Opedaliera-Universitaria S. Orsola-Malpighi Hospital, 40138 Bologna, ItalyBiobank of Research and Institute of Hematology and Medical Oncology “L. and A. Seràgnoli”, IRCCS Azienda Opedaliera-Universitaria S. Orsola-Malpighi Hospital, 40138 Bologna, ItalyHematology and Hematopoietic Stem Cell Transplant Center, AORMN, 61121 Pesaro, ItalyThe prognosis of adult acute lymphoblastic leukemia (ALL) is variable but more often dismal. Indeed, its clinical management is challenging, current therapies inducing complete remission in 65–90% of cases, but only 30–40% of patients being cured. The major determinant of treatment failure is relapse; consequently, measurement of residual leukemic blast (minimal residual disease, MRD) has become a powerful independent prognostic indicator in adults. Numerous evidences have also supported the clinical relevance of MRD assessment for risk class assignment and treatment selection. MRD can be virtually evaluated in all ALL patients using different technologies, such as polymerase chain reaction amplification of fusion transcripts and clonal rearrangements of antigen receptor genes, flow cytometric study of leukemic immunophenotypes and, the most recent, high throughput sequencing (HTS). In this review, the authors focused on the latest developments on MRD monitoring with emphasis on the use of HTS, as well as on the clinical impact of MRD monitoring.https://www.mdpi.com/2673-6357/4/1/4acute lymphoblastic leukemiaminimal residual diseasenext generation sequencingtargeted therapyantigen receptorIGVH
spellingShingle Pier Paolo Piccaluga
Stefania Paolini
Giuseppe Visani
Antigen Receptors Gene Analysis for Minimal Residual Disease Detection in Acute Lymphoblastic Leukemia: The Role of High Throughput Sequencing
Hemato
acute lymphoblastic leukemia
minimal residual disease
next generation sequencing
targeted therapy
antigen receptor
IGVH
title Antigen Receptors Gene Analysis for Minimal Residual Disease Detection in Acute Lymphoblastic Leukemia: The Role of High Throughput Sequencing
title_full Antigen Receptors Gene Analysis for Minimal Residual Disease Detection in Acute Lymphoblastic Leukemia: The Role of High Throughput Sequencing
title_fullStr Antigen Receptors Gene Analysis for Minimal Residual Disease Detection in Acute Lymphoblastic Leukemia: The Role of High Throughput Sequencing
title_full_unstemmed Antigen Receptors Gene Analysis for Minimal Residual Disease Detection in Acute Lymphoblastic Leukemia: The Role of High Throughput Sequencing
title_short Antigen Receptors Gene Analysis for Minimal Residual Disease Detection in Acute Lymphoblastic Leukemia: The Role of High Throughput Sequencing
title_sort antigen receptors gene analysis for minimal residual disease detection in acute lymphoblastic leukemia the role of high throughput sequencing
topic acute lymphoblastic leukemia
minimal residual disease
next generation sequencing
targeted therapy
antigen receptor
IGVH
url https://www.mdpi.com/2673-6357/4/1/4
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