A genetic profiling guideline to support diagnosis and clinical management of lymphomas

The new lymphoma classifications (International Consensus Classification of Mature Lymphoid Neoplasms, and 5th World Health Organization Classification of Lymphoid Neoplasms) include genetics as an integral part of lymphoma diagnosis, allowing better lymphoma subclassification, patient risk stratifi...

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Autores: Sánchez-Beato, Margarita, Méndez, Miriam, Guirado-Risueño, María, Pedrosa, Lucía, Sequero, Silvia, Yanguas-Casás, Natalia, Cruz-Merino, Luis de la, Prieto, Laura, Llanos, Marta, García, Juan Fernando, Provencio, Mariano
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:10261/367806
Acceso en línea:http://hdl.handle.net/10261/367806
https://api.elsevier.com/content/abstract/scopus_id/85170097234
Access Level:acceso abierto
Palabra clave:Prognosis
Diagnosis
Lymphoma
Next-generation sequencing
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spelling A genetic profiling guideline to support diagnosis and clinical management of lymphomasSánchez-Beato, MargaritaMéndez, MiriamGuirado-Risueño, MaríaPedrosa, LucíaSequero, SilviaYanguas-Casás, NataliaCruz-Merino, Luis de laPrieto, LauraLlanos, MartaGarcía, Juan FernandoProvencio, MarianoPrognosisDiagnosisLymphomaNext-generation sequencingThe new lymphoma classifications (International Consensus Classification of Mature Lymphoid Neoplasms, and 5th World Health Organization Classification of Lymphoid Neoplasms) include genetics as an integral part of lymphoma diagnosis, allowing better lymphoma subclassification, patient risk stratification, and prediction of treatment response. Lymphomas are characterized by very few recurrent and disease-specific mutations, and most entities have a heterogenous genetic landscape with a long tail of recurrently mutated genes. Most of these occur at low frequencies, reflecting the clinical heterogeneity of lymphomas. Multiple studies have identified genetic markers that improve diagnostics and prognostication, and next-generation sequencing is becoming an essential tool in the clinical laboratory. This review provides a "next-generation sequencing" guide for lymphomas. It discusses the genetic alterations of the most frequent mature lymphoma entities with diagnostic, prognostic, and predictive potential and proposes targeted sequencing panels to detect mutations and copy-number alterations for B- and NK/T-cell lymphomas.The work of the Grupo de Investigación en Linfomas-IDIPHISA is supported by the ISCIII-MINECO AES-FEDER (Plan Estatal de I+D+I 2017-2020; PI17/00272, PI20/00691); GILEAD (GL18/00019), Dirección General de Universidades e Investigación Consejería de Educación e Investigación de la Comunidad de Madrid (B2017/BMD-3778) and Fundación de Investigación Biomédica H.U. Puerta de Hierro-Majadahonda. LP is recipient of iPFIS predoctoral fellowships (IFI18/0004), by ISCIII/MINECO AES-FEDER (Plan Estatal I+D+I 2017-2020) and NYC is supported by the Fundación Asociación Española Contra el Cáncer.Peer reviewedSpringerInstituto de Salud Carlos IIIMinisterio de Economía y Competitividad (España)European CommissionAgencia Estatal de Investigación (España)Comunidad de MadridGilead SciencesInstituto de Investigación Sanitaria Puerta de HierroFundación Científica Asociación Española Contra el CáncerSánchez-Beato, Margarita [0000-0002-0058-7599]García, Juan Fernando [0000-0001-6974-0806]Provencio, Mariano [0000-0002-2826-656X]Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]202420242024info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_dcae04bcPublisher's versioninfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10261/367806https://api.elsevier.com/content/abstract/scopus_id/85170097234reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Inglés#PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE##PLACEHOLDER_PARENT_METADATA_VALUE#info:eu-repo/grantAgreement/ISCIII/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016 (ISCIII)/PI17%2F00272info:eu-repo/grantAgreement/ISCIII//PI20B2017/BMD-3778/LINFOMAS-CMhttps://doi.org/10.1007/s12094-023-03307-1Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/3678062026-05-22T06:33:51Z
dc.title.none.fl_str_mv A genetic profiling guideline to support diagnosis and clinical management of lymphomas
title A genetic profiling guideline to support diagnosis and clinical management of lymphomas
spellingShingle A genetic profiling guideline to support diagnosis and clinical management of lymphomas
Sánchez-Beato, Margarita
Prognosis
Diagnosis
Lymphoma
Next-generation sequencing
title_short A genetic profiling guideline to support diagnosis and clinical management of lymphomas
title_full A genetic profiling guideline to support diagnosis and clinical management of lymphomas
title_fullStr A genetic profiling guideline to support diagnosis and clinical management of lymphomas
title_full_unstemmed A genetic profiling guideline to support diagnosis and clinical management of lymphomas
title_sort A genetic profiling guideline to support diagnosis and clinical management of lymphomas
dc.creator.none.fl_str_mv Sánchez-Beato, Margarita
Méndez, Miriam
Guirado-Risueño, María
Pedrosa, Lucía
Sequero, Silvia
Yanguas-Casás, Natalia
Cruz-Merino, Luis de la
Prieto, Laura
Llanos, Marta
García, Juan Fernando
Provencio, Mariano
author Sánchez-Beato, Margarita
author_facet Sánchez-Beato, Margarita
Méndez, Miriam
Guirado-Risueño, María
Pedrosa, Lucía
Sequero, Silvia
Yanguas-Casás, Natalia
Cruz-Merino, Luis de la
Prieto, Laura
Llanos, Marta
García, Juan Fernando
Provencio, Mariano
author_role author
author2 Méndez, Miriam
Guirado-Risueño, María
Pedrosa, Lucía
Sequero, Silvia
Yanguas-Casás, Natalia
Cruz-Merino, Luis de la
Prieto, Laura
Llanos, Marta
García, Juan Fernando
Provencio, Mariano
author2_role author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Instituto de Salud Carlos III
Ministerio de Economía y Competitividad (España)
European Commission
Agencia Estatal de Investigación (España)
Comunidad de Madrid
Gilead Sciences
Instituto de Investigación Sanitaria Puerta de Hierro
Fundación Científica Asociación Española Contra el Cáncer
Sánchez-Beato, Margarita [0000-0002-0058-7599]
García, Juan Fernando [0000-0001-6974-0806]
Provencio, Mariano [0000-0002-2826-656X]
Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv Prognosis
Diagnosis
Lymphoma
Next-generation sequencing
topic Prognosis
Diagnosis
Lymphoma
Next-generation sequencing
description The new lymphoma classifications (International Consensus Classification of Mature Lymphoid Neoplasms, and 5th World Health Organization Classification of Lymphoid Neoplasms) include genetics as an integral part of lymphoma diagnosis, allowing better lymphoma subclassification, patient risk stratification, and prediction of treatment response. Lymphomas are characterized by very few recurrent and disease-specific mutations, and most entities have a heterogenous genetic landscape with a long tail of recurrently mutated genes. Most of these occur at low frequencies, reflecting the clinical heterogeneity of lymphomas. Multiple studies have identified genetic markers that improve diagnostics and prognostication, and next-generation sequencing is becoming an essential tool in the clinical laboratory. This review provides a "next-generation sequencing" guide for lymphomas. It discusses the genetic alterations of the most frequent mature lymphoma entities with diagnostic, prognostic, and predictive potential and proposes targeted sequencing panels to detect mutations and copy-number alterations for B- and NK/T-cell lymphomas.
publishDate 2024
dc.date.none.fl_str_mv 2024
2024
2024
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/10261/367806
https://api.elsevier.com/content/abstract/scopus_id/85170097234
url http://hdl.handle.net/10261/367806
https://api.elsevier.com/content/abstract/scopus_id/85170097234
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv #PLACEHOLDER_PARENT_METADATA_VALUE#
#PLACEHOLDER_PARENT_METADATA_VALUE#
#PLACEHOLDER_PARENT_METADATA_VALUE#
info:eu-repo/grantAgreement/ISCIII/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016 (ISCIII)/PI17%2F00272
info:eu-repo/grantAgreement/ISCIII//PI20
B2017/BMD-3778/LINFOMAS-CM
https://doi.org/10.1007/s12094-023-03307-1
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 Springer
publisher.none.fl_str_mv Springer
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)
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