biostudies-literatureUnknown12(1)Sanchez RFUNDACION CRIS CONTRA EL CÁNCERThe 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 Scientific reports13057https://www.ebi.ac.uk/biostudies/studies/S-EPMC9338264biostudies-literatureDetection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA.PMC9338264Villalon LSteegman JLCasado LFSanchez RWang CFerrer-Marin FAnguita EAyala RCarrillo JGarcia-Gutierrez VRibera JMRosa-Rosa JMde Toledo PMorgades MMartin-Munoz ACarreno-Tarragona GColl RCervera MBarragan EMartinez-Lopez JRufian LExposito SVanegas RSargas CLinares MDorado SSeri CBravo PGarcia OMercadal SDel Mar Herraez MSevilla JBarrio SZamora LMagro EEspino MJRuiz ERiaza RTorrent ACuevas BRuiz-Heredia YHernandez-Rivas JARibera JJuarez ACaceres MJimenez-Ubieto ASanchez-Calero JfalseDetection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA.The 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 2022-01-01T00:00:00Z2022 Jul2026-07-16T12:02:22.867Z2025-04-04T08:44:59.151ZS-EPMC93382643590647010.1038/s41598-022-17271-3