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dc.contributor.authorSanchez, Ricardo-
dc.contributor.authorAyala, Rosa-
dc.contributor.authorAlonso, Rafael Alberto-
dc.contributor.authorMartínez, María Pilar-
dc.contributor.authorRibera, Jordi-
dc.contributor.authorGarcía, Olga-
dc.contributor.authorSanchez-Pina, José-
dc.contributor.authorMercadal, Santiago-
dc.contributor.authorMontesinos, Pau-
dc.contributor.authorMartino, Rodrigo-
dc.contributor.authorBarba, Pere-
dc.contributor.authorGonzález-Campos, José-
dc.contributor.authorBarrios, Manuel-
dc.contributor.authorLavilla, Esperanza-
dc.contributor.authorGil, Cristina-
dc.contributor.authorBernal, Teresa-
dc.contributor.authorEscoda, Lourdes-
dc.contributor.authorAbella, Eugenia-
dc.contributor.authorAmigo, Ma Luz-
dc.contributor.authorMoreno, Ma José-
dc.contributor.authorBravo, Pilar-
dc.contributor.authorGuàrdia, Ramón-
dc.contributor.authorHernández-Rivas, Jesús-María-
dc.contributor.authorGarcía-Guiñón, Antoni-
dc.contributor.authorPiernas, Sonia-
dc.contributor.authorRibera, José-María-
dc.contributor.authorMartínez-López, Joaquín-
dc.identifier.citationSanchez R, Ayala R, Alonso RA, Marínez MP, Ribera J, García O, et al. Clinical characteristics of patients with central nervous system relapse in BCR-ABL1-positive acute lymphoblastic leukemia: the importance of characterizing ABL1 mutations in cerebrospinal fluid. Ann Hematol. 2017 Apr 27.es_ES
dc.identifier.issn0939-5555 (Print)es_ES
dc.identifier.issn1432-0584 (Online)es_ES
dc.description.abstractWe investigated the frequency, predictors, and evolution of acute lymphoblastic leukemia (ALL) in patients with CNS relapse and introduced a novel method for studying BCR-ABL1 protein variants in cDNA from bone marrow (BM) and cerebrospinal fluid (CSF) blast cells. A total of 128 patients were analyzed in two PETHEMA clinical trials. All achieved complete remission after imatinib treatment. Of these, 30 (23%) experienced a relapse after achieving complete remission, and 13 (10%) had an isolated CNS relapse or combined CNS and BM relapses. We compared the characteristics of patients with and without CNS relapse and further analyzed CSF and BM samples from two of the 13 patients with CNS relapse. In both patients, classical sequencing analysis of the kinase domain of BCR-ABL1 from the cDNA of CSF blasts revealed the pathogenic variant p.L387M. We also performed ultra-deep next-generation sequencing (NGS) in three samples from one of the relapsed patients. We did not find the mutation in the BM sample, but we did find it in CSF blasts with 45% of reads at the time of relapse. These data demonstrate the feasibility of detecting BCR-ABL1 mutations in CSF blasts by NGS and highlight the importance of monitoring clonal evolution over time.es_ES
dc.description.sponsorshipThis work was supported by the Fundación CRIS and Red Temática de Investigación Cooperativa en Cáncer (RTICC), Instituto de Salud Carlos III (Ref.: RD12/0036/0061).es_ES
dc.publisherSpringer Verlages_ES
dc.relation.ispartofAnnals of Hematologyes_ES
dc.subjectAcute lymphoblastic leukemia relapsees_ES
dc.subjectCentral nervous systemes_ES
dc.subjectMutation analysises_ES
dc.subjectMesilato de imatinibes_ES
dc.subjectLeucemia-Linfoma linfoblástico de células precursorases_ES
dc.subjectProteínas proto-oncogénicas c-bcres_ES
dc.subjectMédula óseaes_ES
dc.subjectEvolución clonales_ES
dc.subjectADN complementarioes_ES
dc.subjectSecuenciación de nucleótidos de alto rendimientoes_ES
dc.subject.meshMedical Subject Headings::Anatomy::Hemic and Immune Systems::Immune System::Bone Marrowes_ES
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Cell Physiological Phenomena::Cell Physiological Processes::Clonal Evolutiones_ES
dc.subject.meshMedical Subject Headings::Chemicals and Drugs::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::DNA::DNA, Single-Stranded::DNA, Complementaryes_ES
dc.subject.meshMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::High-Throughput Nucleotide Sequencinges_ES
dc.subject.meshMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humanses_ES
dc.subject.meshMedical Subject Headings::Chemicals and Drugs::Organic Chemicals::Amides::Benzamides::Imatinib Mesylatees_ES
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutationes_ES
dc.subject.meshMedical Subject Headings::Diseases::Neoplasms::Neoplasms by Histologic Type::Leukemia::Leukemia, Lymphoid::Precursor Cell Lymphoblastic Leukemia-Lymphomaes_ES
dc.subject.meshMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Neoplasm Proteins::Oncogene Proteins::Proto-Oncogene Proteins::Proto-Oncogene Proteins c-bcres_ES
dc.subject.meshMedical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Recurrencees_ES
dc.titleClinical characteristics of patients with central nervous system relapse in BCR-ABL1-positive acute lymphoblastic leukemia: the importance of characterizing ABL1 mutations in cerebrospinal fluides_ES
dc.rights.accessRightsAcceso abiertoes_ES
dc.contributor.authoraffiliation[Sanchez,R; Ayala,R; Alonso,RA; Martínez,MP, Sanchez-Pina; Martínez-López,J] Instituto de Investigación Hospital 12 de Octubre (i+12), Servicio de Hematología, Hematología Traslacional, Hospital Universitario 12 de Octubre, Spain. [Ribera,J; García,O; Ribera,JM] Institut de Recerca contra la Leucèmia Josep Carreras, ICO-Hospital Germans Trias i Pujol, Badalona, Spain. [Mercadal,S] ICO-Hospital Duran i Reynals (Bellvitge), Barcelona, Spain. [Montesinos,P] Hospital Universitari i Politècnic La Fe, Valencia, Spain. [Martino,R] Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. [Barba,P] Hospital Universitari Vall d’Hebron, Barcelona, Spain. [González-Campos,J] Hospital Universitario Virgen del Rocío, Sevilla, Spain. [Barrios,M] Hospital Regional Universitario Carlos Haya, Málaga, Spain. [Lavilla,E] Hospital Universitario Lucus Augusti, Lugo, Spain. [Gil,C] Hospital General Universitario de Alicante, Alicante, Spain. [Bernal,T] Hospital Universitario Central de Asturias, Oviedo, Spain. [Escoda,L] Hospital Universitari Joan XXIII, Tarragona, Spain. [Abella,E] Hospital del Mar, Barcelona, Spain. [Amigo,ML] Hospital General Universitario Morales Meseguer, Murcia, Spain. [Moreno,MJ] Hospital Universitario Virgen de la Victoria, Málaga, Spain. [Bravo,P] Hospital de Fuenlabrada, Fuenlabrada, Madrid, Spain. [Guàrdia,R] ICO-Hospital Universitari Dr. Josep Trueta, Girona, Spain. [Hernández-Rivas,JM] Hospital Universitario de Salamanca, Salamanca, Spain. [García-Guiñón,A] Hospital Universitari Arnau de Vilanova, Lleida, Spain. [Piernas,S] Hospital Universitari Parc Taulí, Sabadell, Barcelona, Spain.es_ES
Appears in Collections:01- Artículos - Hospital Regional de Málaga
01- Artículos - Hospital Virgen de la Victoria
01- Artículos - Hospital Virgen del Rocío

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