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dc.contributor.authorSánchez, Ricardo-
dc.contributor.authorDorado, Sara-
dc.contributor.authorRuíz-Heredia, Yanira-
dc.contributor.authorMartín-Muñoz, Alejandro-
dc.contributor.authorRosa-Rosa, Juan Manuel-
dc.contributor.authorRibera, Jordi-
dc.contributor.authorGarcía, Olga-
dc.contributor.authorJimenez-Ubieto, Ana-
dc.contributor.authorCarreño-Tarragona, Gonzalo-
dc.contributor.authorLinares, María-
dc.contributor.authorRufián, Laura-
dc.contributor.authorJuárez, Alexandra-
dc.contributor.authorCarrillo, Jaime-
dc.contributor.authorEspino, María José-
dc.contributor.authorCáceres, Mercedes-
dc.contributor.authorExpósito, Sara-
dc.contributor.authorCuevas, Beatriz-
dc.contributor.authorVanegas, Raúl-
dc.contributor.authorCasado, Luis Felipe-
dc.contributor.authorTorrent, Anna-
dc.contributor.authorZamora, Lurdes-
dc.contributor.authorMercadal, Santiago-
dc.contributor.authorColl, Rosa-
dc.contributor.authorCervera, Marta-
dc.contributor.authorMorgades, Mireia-
dc.contributor.authorHernández-Rivas, José Ángel-
dc.contributor.authorBravo Barahona, Pilar-
dc.contributor.authorSerí, Cristina-
dc.contributor.authorAnguita, Eduardo-
dc.contributor.authorBarragán, Eva-
dc.contributor.authorSargas, Claudia-
dc.contributor.authorFerrer-Marín, Francisca-
dc.contributor.authorSánchez-Calero, Jorge-
dc.contributor.authorSevilla, Julián-
dc.contributor.authorRuíz, Elena-
dc.contributor.authorVillalón, Lucía-
dc.contributor.authorDel Mar Herráez, María-
dc.contributor.authorRiaza, Rosalía-
dc.contributor.authorMagro, Elena-
dc.contributor.authorSteegman, Juan Luis-
dc.contributor.authorWang, Chongwu-
dc.contributor.authorde Toledo, Paula-
dc.contributor.authorGarcía-Gutiérrez, Valentín-
dc.contributor.authorAyala, Rosa-
dc.contributor.authorRibera, Josep-Maria-
dc.contributor.authorBarrio, Santiago-
dc.contributor.authorMartínez-López, Joaquín-
dc.identifier.citationSánchez R, Dorado S, Ruíz-Heredia Y, Martín-Muñoz A, Rosa-Rosa JM, Ribera J, García O, Jimenez-Ubieto A, Carreño-Tarragona G, Linares M, Rufián L, Juárez A, Carrillo J, Espino MJ, Cáceres M, Expósito S, Cuevas B, Vanegas R, Casado LF, Torrent A, Zamora L, Mercadal S, Coll R, Cervera M, Morgades M, Hernández-Rivas JÁ, Bravo P, Serí C, Anguita E, Barragán E, Sargas C, Ferrer-Marín F, Sánchez-Calero J, Sevilla J, Ruíz E, Villalón L, Del Mar Herráez M, Riaza R, Magro E, Steegman JL, Wang C, de Toledo P, García-Gutiérrez V, Ayala R, Ribera JM, Barrio S, Martínez-López J. Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA. Sci Rep. 2022 Jul 29;12(1):13057. doi: 10.1038/s41598-022-17271-3. PMID: 35906470; PMCID: PMC9338264.es_ES
dc.description.abstractThe screening of the BCR::ABL1 kinase domain (KD) mutation has become a routine analysis in case of warning/failure for chronic myeloid leukemia (CML) and B-cell precursor acute lymphoblastic leukemia (ALL) Philadelphia (Ph)-positive patients. In this study, we present a novel DNA-based next-generation sequencing (NGS) methodology for KD ABL1 mutation detection and monitoring with a 1.0E-4 sensitivity. This approach was validated with a well-stablished RNA-based nested NGS method. The correlation of both techniques for the quantification of ABL1 mutations was high (Pearson r = 0.858, p < 0.001), offering DNA-DeepNGS a sensitivity of 92% and specificity of 82%. The clinical impact was studied in a cohort of 129 patients (n = 67 for CML and n = 62 for B-ALL patients). A total of 162 samples (n = 86 CML and n = 76 B-ALL) were studied. Of them, 27 out of 86 harbored mutations (6 in warning and 21 in failure) for CML, and 13 out of 76 (2 diagnostic and 11 relapse samples) did in B-ALL patients. In addition, in four cases were detected mutation despite BCR::ABL1 < 1%. In conclusion, we were able to detect KD ABL1 mutations with a 1.0E-4 sensitivity by NGS using DNA as starting material even in patients with low levels of disease.es_ES
dc.description.sponsorshipCRIS CANCER FOUNDATIONes_ES
dc.publisherSpringer Science and Business Media LLCes_ES
dc.relation.isversionofPublisher's versiones_ES
dc.rightsAtribución 3.0 España*
dc.subject.meshDrug Resistance, Neoplasmes_ES
dc.subject.meshFusion Proteins, bcr-ables_ES
dc.subject.meshHigh-Throughput Nucleotide Sequencinges_ES
dc.subject.meshProtein Kinase Inhibitorses_ES
dc.subject.meshLeukemia, Myelogenous, Chronic, BCR-ABL Positivees_ES
dc.subject.meshPrecursor Cell Lymphoblastic Leukemia-Lymphomaes_ES
dc.titleDetection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNAes_ES
dc.contributor.funderCRIS CANCER FOUNDATIONes_ES
dc.identifier.journalScientific reportses_ES
dc.identifier.journalabbreviationSci Repes_ES
dc.contributor.authoraffiliationServicio de Oncología Médica. Hematología. Hospital Universitario de Fuenlabrada.es_ES
dc.subject.decsResistencia a Medicamentoses_ES
dc.subject.decsInhibidores de Proteínas Quinasases_ES
dc.subject.decsLeucemia-Linfoma Linfoblástico de Células Precursorases_ES
Appears in Collections:Hospitales > H. U. de Fuenlabrada > Artículos

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