Unraveling the Genetic Heterogeneity of Acute Lymphoblastic Leukemia Based on NGS Applications

Acute lymphoblastic leukemia (ALL) is a hematological neoplasm characterized by the clonal expansion of abnormal lymphoid precursors in bone marrow, which leads to alterations in the processes of cell differentiation and maturation as a consequence of genetic alterations. The integration of conventi...

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Autores: Ramírez Maldonado, Valentina, Navas-Acosta, Josgrey, Maldonado Marcos, Iván, Villaverde-Ramiro, Ángela, Hernández-Sánchez, Alberto, Hernández, Jesús M., Benito, Rocío
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/382179
Acceso en línea:http://hdl.handle.net/10261/382179
Access Level:acceso abierto
Palabra clave:Acute lymphoblastic leukemia
Next-generation sequencing (NGS)
Whole-genome sequencing
Personalized medicine
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spelling Unraveling the Genetic Heterogeneity of Acute Lymphoblastic Leukemia Based on NGS ApplicationsRamírez Maldonado, ValentinaNavas-Acosta, JosgreyMaldonado Marcos, IvánVillaverde-Ramiro, ÁngelaHernández-Sánchez, AlbertoHernández, Jesús M.Benito, RocíoAcute lymphoblastic leukemiaNext-generation sequencing (NGS)Whole-genome sequencingPersonalized medicineAcute lymphoblastic leukemia (ALL) is a hematological neoplasm characterized by the clonal expansion of abnormal lymphoid precursors in bone marrow, which leads to alterations in the processes of cell differentiation and maturation as a consequence of genetic alterations. The integration of conventional methods, such as cytogenetics and immunophenotyping, and next-generation sequencing (NGS) has led to significant improvements at diagnosis and patient stratification; this has also allowed the discovery of several novel molecular entities with specific genetic variants that may drive the processes of leukemogenesis. Nevertheless, the understanding of the process of leukemogenesis remains a challenge since this disease persists as the most frequent cancer in children; it accounts for approximately one-quarter of adult acute leukemias, and the patient management may take into consideration the high intra- and inter-tumor heterogeneity and the relapse risk due to the various molecular events that can occur during clonal evolution. Some germline variants have been identified as risk factors or have been found to be related to the response to treatment. Therefore, better knowledge of the genetic alterations in B-ALL will have a prognostic impact from the perspective of personalized medicine. This review aims to compare, synthesize, and highlight recent findings concerning ALL obtained through NGS that have led to a better understanding of new molecular subtypes based on immunophenotypic characteristics, mutational profiles, and expression profiles.This work was supported by Fundación Mutua Madrileña FMM21/002 (AP176752021), Fondos FEDER (EU) and Consejería Educación Junta Castilla y León (SA118P20, SA198P24), Instituto de Investigación Biomédica de Salamanca-IBSAL-Herencia Juan Salvador Escudero (IBPED21/00001), Proyectos de Investigación del SACYL, Spain, Gerencia Regional de Salud de Castilla y León, GRS 2385/A/21, GRS 2386/A/21, GRS2506/A22, GRS2823/A1/2023. Co-funded by the European Union, by grants (RD12/0036/0069) from Red Temática de Investigación Cooperativa en Cáncer (RTICC) and Centro de Investigación Biomédica en Red de Cáncer (CIBERONC CB16/12/00233). AHS is supported by a Río Hortega contract (CM23/00101) from the Instituto de Salud Carlos III (ISCIII). VRM was supported by Colfuturo Scholarship-Credit as a collaborative and cooperative program with the National Government of Colombia, through the Ministry of Science, Technology and Innovation; and Sura Colombia as sponsorship.Peer reviewedMultidisciplinary Digital Publishing InstituteFundación Mutua MadrileñaEuropean CommissionJunta de Castilla y LeónInstituto de Investigación Biomédica de SalamancaRed Temática de Investigación Cooperativa en Cáncer (España)Centro de Investigación Biomédica en Red Cáncer (España)Instituto de Salud Carlos IIIMinisterio de Ciencia, Tecnología e Innovación (Colombia)Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]202520252024info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_dcae04bcPublisher's versioninfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10261/382179reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Ingléshttps://doi.org/10.3390/cancers16233965Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/3821792026-05-22T06:33:51Z
dc.title.none.fl_str_mv Unraveling the Genetic Heterogeneity of Acute Lymphoblastic Leukemia Based on NGS Applications
title Unraveling the Genetic Heterogeneity of Acute Lymphoblastic Leukemia Based on NGS Applications
spellingShingle Unraveling the Genetic Heterogeneity of Acute Lymphoblastic Leukemia Based on NGS Applications
Ramírez Maldonado, Valentina
Acute lymphoblastic leukemia
Next-generation sequencing (NGS)
Whole-genome sequencing
Personalized medicine
title_short Unraveling the Genetic Heterogeneity of Acute Lymphoblastic Leukemia Based on NGS Applications
title_full Unraveling the Genetic Heterogeneity of Acute Lymphoblastic Leukemia Based on NGS Applications
title_fullStr Unraveling the Genetic Heterogeneity of Acute Lymphoblastic Leukemia Based on NGS Applications
title_full_unstemmed Unraveling the Genetic Heterogeneity of Acute Lymphoblastic Leukemia Based on NGS Applications
title_sort Unraveling the Genetic Heterogeneity of Acute Lymphoblastic Leukemia Based on NGS Applications
dc.creator.none.fl_str_mv Ramírez Maldonado, Valentina
Navas-Acosta, Josgrey
Maldonado Marcos, Iván
Villaverde-Ramiro, Ángela
Hernández-Sánchez, Alberto
Hernández, Jesús M.
Benito, Rocío
author Ramírez Maldonado, Valentina
author_facet Ramírez Maldonado, Valentina
Navas-Acosta, Josgrey
Maldonado Marcos, Iván
Villaverde-Ramiro, Ángela
Hernández-Sánchez, Alberto
Hernández, Jesús M.
Benito, Rocío
author_role author
author2 Navas-Acosta, Josgrey
Maldonado Marcos, Iván
Villaverde-Ramiro, Ángela
Hernández-Sánchez, Alberto
Hernández, Jesús M.
Benito, Rocío
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Fundación Mutua Madrileña
European Commission
Junta de Castilla y León
Instituto de Investigación Biomédica de Salamanca
Red Temática de Investigación Cooperativa en Cáncer (España)
Centro de Investigación Biomédica en Red Cáncer (España)
Instituto de Salud Carlos III
Ministerio de Ciencia, Tecnología e Innovación (Colombia)
Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv Acute lymphoblastic leukemia

Next-generation sequencing (NGS)
Whole-genome sequencing
Personalized medicine
topic Acute lymphoblastic leukemia
Next-generation sequencing (NGS)
Whole-genome sequencing
Personalized medicine
description Acute lymphoblastic leukemia (ALL) is a hematological neoplasm characterized by the clonal expansion of abnormal lymphoid precursors in bone marrow, which leads to alterations in the processes of cell differentiation and maturation as a consequence of genetic alterations. The integration of conventional methods, such as cytogenetics and immunophenotyping, and next-generation sequencing (NGS) has led to significant improvements at diagnosis and patient stratification; this has also allowed the discovery of several novel molecular entities with specific genetic variants that may drive the processes of leukemogenesis. Nevertheless, the understanding of the process of leukemogenesis remains a challenge since this disease persists as the most frequent cancer in children; it accounts for approximately one-quarter of adult acute leukemias, and the patient management may take into consideration the high intra- and inter-tumor heterogeneity and the relapse risk due to the various molecular events that can occur during clonal evolution. Some germline variants have been identified as risk factors or have been found to be related to the response to treatment. Therefore, better knowledge of the genetic alterations in B-ALL will have a prognostic impact from the perspective of personalized medicine. This review aims to compare, synthesize, and highlight recent findings concerning ALL obtained through NGS that have led to a better understanding of new molecular subtypes based on immunophenotypic characteristics, mutational profiles, and expression profiles.
publishDate 2024
dc.date.none.fl_str_mv 2024
2025
2025
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_dcae04bc
Publisher's version
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/382179
url http://hdl.handle.net/10261/382179
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv https://doi.org/10.3390/cancers16233965
Sí
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Multidisciplinary Digital Publishing Institute
publisher.none.fl_str_mv Multidisciplinary Digital Publishing Institute
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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