Frequency and clinical impact of CDKN2A/ARF/CDKN2B gene deletions as assessed by in-depth genetic analyses in adult T cell acute lymphoblastic leukemia

© The Author(s).

Detalles Bibliográficos
Autores: Genescà, Eulàlia, Lazarenkov, A., Morgades, Mireia, Berbis, G., Ruiz-Xivillé, Neus, Gómez-Marzo, P., Ribera, Jordi, Juncà, Jordi, González-Pérez, A., Mercadal, Santiago, Guàrdia, Ramón, Artola, María Teresa, Moreno, María José, Martínez-López, Joaquín, Zamora, Lurdes, Barba, Pere, Gil, Cristina, Tormo, Mar, Cladera, Antonia, Novo, Andrés, Pratcorona, Marta, Nomdedéu, Josep F., González-Campos, José A., Almeida, María, Cervera, José, Montesinos, Pau, Batlle, M., Vives, Susana, Esteve, Jordi, Solé, Francesc, Orfao, Alberto, Ribera, Josep-Maria
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2018
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/245085
Acceso en línea:http://hdl.handle.net/10261/245085
Access Level:acceso abierto
Palabra clave:T-ALL
CDKN2A/ARF
CDKN2B
Prognosis
MRD
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spelling Frequency and clinical impact of CDKN2A/ARF/CDKN2B gene deletions as assessed by in-depth genetic analyses in adult T cell acute lymphoblastic leukemiaGenescà, EulàliaLazarenkov, A.Morgades, MireiaBerbis, G.Ruiz-Xivillé, NeusGómez-Marzo, P.Ribera, JordiJuncà, JordiGonzález-Pérez, A.Mercadal, SantiagoGuàrdia, RamónArtola, María TeresaMoreno, María JoséMartínez-López, JoaquínZamora, LurdesBarba, PereGil, CristinaTormo, MarCladera, AntoniaNovo, AndrésPratcorona, MartaNomdedéu, Josep F.González-Campos, José A.Almeida, MaríaCervera, JoséMontesinos, PauBatlle, M.Vives, SusanaEsteve, JordiSolé, FrancescOrfao, AlbertoRibera, Josep-MariaT-ALLCDKN2A/ARFCDKN2BPrognosisMRD© The Author(s).Recurrent deletions of the CDKN2A/ARF/CDKN2B genes encoded at chromosome 9p21 have been described in both pediatric and adult acute lymphoblastic leukemia (ALL), but their prognostic value remains controversial, with limited data on adult T-ALL. Here, we investigated the presence of homozygous and heterozygous deletions of the CDKN2A/ARF and CDKN2B genes in 64 adult T-ALL patients enrolled in two consecutive trials from the Spanish PETHEMA group. Alterations in CDKN2A/ARF/CDKN2B were detected in 35/64 patients (55%). Most of them consisted of 9p21 losses involving homozygous deletions of the CDKNA/ARF gene (26/64), as confirmed by single nucleotide polymorphism (SNP) arrays and interphase fluorescence in situ hybridization (iFISH). Deletions involving the CDKN2A/ARF/CDKN2B locus correlated with a higher frequency of cortical T cell phenotype and a better clearance of minimal residual disease (MRD) after induction therapy. Moreover, the combination of an altered copy-number-value (CNV) involving the CDKN2A/ARF/CDKN2B gene locus and undetectable MRD (≤ 0.01%) values allowed the identification of a subset of T-ALL with better overall survival in the absence of hematopoietic stem cell transplantation.This project was supported by the Asociación Española Contra el Cáncer, AECC (project ref.: GC16173697BIGA), by CERCA Program/Generalitat de Catalunya, the Catalan Government: 2014-SGR225 (GRE), Obra Social “La Caixa” and by Celgene Spain. E. Genescà is the recipient of agrant from the Spanish Health Ministry (ISCIII, CA12/00468) and an unrestricted grant from Gilead.A. Gonzalez-Perez is supported by a Ramon y Cajal fellowship (RYC-2013-14554) of the Educational Ministry (Madrid, Spain). This work was also partially supported by FEDER funds from the ISCIII (PT13/0010/0026, CIBERONC (CB16/12/00284 and CB16/12/00400), Madrid, Spain).BioMed CentralAsociación Española Contra el CáncerGeneralitat de CatalunyaFundación la CaixaInstituto de Salud Carlos IIIMinisterio de Economía y Competitividad (España)Ministerio de Educación (España)European CommissionConsejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]2021202120182021info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Publisher's versioninfo:eu-repo/semantics/publishedVersionhttp://hdl.handle.net/10261/245085reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Inglés#PLACEHOLDER_PARENT_METADATA_VALUE#info:eu-repo/grantAgreement/MINECO/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/RYC-2013-14554http://dx.doi.org/10.1186/s13045-018-0639-8Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/2450852026-05-22T06:33:51Z
dc.title.none.fl_str_mv Frequency and clinical impact of CDKN2A/ARF/CDKN2B gene deletions as assessed by in-depth genetic analyses in adult T cell acute lymphoblastic leukemia
title Frequency and clinical impact of CDKN2A/ARF/CDKN2B gene deletions as assessed by in-depth genetic analyses in adult T cell acute lymphoblastic leukemia
spellingShingle Frequency and clinical impact of CDKN2A/ARF/CDKN2B gene deletions as assessed by in-depth genetic analyses in adult T cell acute lymphoblastic leukemia
Genescà, Eulàlia
T-ALL
CDKN2A/ARF
CDKN2B
Prognosis
MRD
title_short Frequency and clinical impact of CDKN2A/ARF/CDKN2B gene deletions as assessed by in-depth genetic analyses in adult T cell acute lymphoblastic leukemia
title_full Frequency and clinical impact of CDKN2A/ARF/CDKN2B gene deletions as assessed by in-depth genetic analyses in adult T cell acute lymphoblastic leukemia
title_fullStr Frequency and clinical impact of CDKN2A/ARF/CDKN2B gene deletions as assessed by in-depth genetic analyses in adult T cell acute lymphoblastic leukemia
title_full_unstemmed Frequency and clinical impact of CDKN2A/ARF/CDKN2B gene deletions as assessed by in-depth genetic analyses in adult T cell acute lymphoblastic leukemia
title_sort Frequency and clinical impact of CDKN2A/ARF/CDKN2B gene deletions as assessed by in-depth genetic analyses in adult T cell acute lymphoblastic leukemia
dc.creator.none.fl_str_mv Genescà, Eulàlia
Lazarenkov, A.
Morgades, Mireia
Berbis, G.
Ruiz-Xivillé, Neus
Gómez-Marzo, P.
Ribera, Jordi
Juncà, Jordi
González-Pérez, A.
Mercadal, Santiago
Guàrdia, Ramón
Artola, María Teresa
Moreno, María José
Martínez-López, Joaquín
Zamora, Lurdes
Barba, Pere
Gil, Cristina
Tormo, Mar
Cladera, Antonia
Novo, Andrés
Pratcorona, Marta
Nomdedéu, Josep F.
González-Campos, José A.
Almeida, María
Cervera, José
Montesinos, Pau
Batlle, M.
Vives, Susana
Esteve, Jordi
Solé, Francesc
Orfao, Alberto
Ribera, Josep-Maria
author Genescà, Eulàlia
author_facet Genescà, Eulàlia
Lazarenkov, A.
Morgades, Mireia
Berbis, G.
Ruiz-Xivillé, Neus
Gómez-Marzo, P.
Ribera, Jordi
Juncà, Jordi
González-Pérez, A.
Mercadal, Santiago
Guàrdia, Ramón
Artola, María Teresa
Moreno, María José
Martínez-López, Joaquín
Zamora, Lurdes
Barba, Pere
Gil, Cristina
Tormo, Mar
Cladera, Antonia
Novo, Andrés
Pratcorona, Marta
Nomdedéu, Josep F.
González-Campos, José A.
Almeida, María
Cervera, José
Montesinos, Pau
Batlle, M.
Vives, Susana
Esteve, Jordi
Solé, Francesc
Orfao, Alberto
Ribera, Josep-Maria
author_role author
author2 Lazarenkov, A.
Morgades, Mireia
Berbis, G.
Ruiz-Xivillé, Neus
Gómez-Marzo, P.
Ribera, Jordi
Juncà, Jordi
González-Pérez, A.
Mercadal, Santiago
Guàrdia, Ramón
Artola, María Teresa
Moreno, María José
Martínez-López, Joaquín
Zamora, Lurdes
Barba, Pere
Gil, Cristina
Tormo, Mar
Cladera, Antonia
Novo, Andrés
Pratcorona, Marta
Nomdedéu, Josep F.
González-Campos, José A.
Almeida, María
Cervera, José
Montesinos, Pau
Batlle, M.
Vives, Susana
Esteve, Jordi
Solé, Francesc
Orfao, Alberto
Ribera, Josep-Maria
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Asociación Española Contra el Cáncer
Generalitat de Catalunya
Fundación la Caixa
Instituto de Salud Carlos III
Ministerio de Economía y Competitividad (España)
Ministerio de Educación (España)
European Commission
Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv T-ALL
CDKN2A/ARF
CDKN2B
Prognosis
MRD
topic T-ALL
CDKN2A/ARF
CDKN2B
Prognosis
MRD
description © The Author(s).
publishDate 2018
dc.date.none.fl_str_mv 2018
2021
2021
2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_6501
Publisher's version
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/245085
url http://hdl.handle.net/10261/245085
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv #PLACEHOLDER_PARENT_METADATA_VALUE#
info:eu-repo/grantAgreement/MINECO/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/RYC-2013-14554
http://dx.doi.org/10.1186/s13045-018-0639-8
Sí
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv BioMed Central
publisher.none.fl_str_mv BioMed Central
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
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