Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA
Sánchez, Ricardo (Hospital Universitario 12 de Octubre (Madrid))
Dorado, Sara ![ORCID Identifier](/img/uab/orcid.ico)
(Universidad Carlos III de Madrid. Departamento de Informática e Ingeniería)
Ruíz-Heredia, Yanira ![ORCID Identifier](/img/uab/orcid.ico)
(Altum Sequencing (Madrid))
Martín-Muñoz, Alejandro ![ORCID Identifier](/img/uab/orcid.ico)
(Altum Sequencing (Madrid))
Rosa-Rosa, J.M. ![ORCID Identifier](/img/uab/orcid.ico)
(Unidad de Investigación Clínica de Neoplasias Hematológicas (Madrid))
Ribera Salas, Jordi ![ORCID Identifier](/img/uab/orcid.ico)
(Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
García, Olga (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Jimenez-Ubieto, Ana
(Unidad de Investigación Clínica de Neoplasias Hematológicas (Madrid))
Carreño-Tarragona, Gonzalo
(Unidad de Investigación Clínica de Neoplasias Hematológicas (Madrid))
Linares, Maria (Universidad Complutense de Madrid. Departamento de Bioquímica y Biología Molecular)
Rufián, Laura (Altum Sequencing (Madrid))
Juárez, Alexandra (Altum Sequencing (Madrid))
Carrillo García, Jaime
(Altum Sequencing (Madrid))
Espino, María José (Hospital Universitario 12 de Octubre (Madrid))
Cáceres, Mercedes (Hospital Universitario 12 de Octubre (Madrid))
Expósito, Sara (Instituto Cajal (Consejo Superior de Investigaciones Científicas))
Cuevas, Beatriz
(Hospital Universitario de Burgos)
Vanegas, Raúl (Hospital General Universitario de Ciudad Real)
Casado Montero, Luis Felipe
(Hospital Virgen de la Salud (Toledo))
Torrent Catarineu, Anna
(Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Zamora, Lurdes
(Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Mercadal, Santiago
(Hospital Duran i Reynals (Barcelona))
Coll, Rosa
(Hospital Universitari de Girona Doctor Josep Trueta)
Cervera, Marta (Hospital Universitari Joan XXIII de Tarragona)
Morgades, Mireia
(Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Hernández Rivas, José Ángel
(Hospital Universitario Infanta Leonor)
Bravo, Pilar (Hospital Universitario de Fuenlabrada ( Madrid))
Serí, Cristina (Hospital Central de la Defensa Gómez Ulla)
Anguita, Eduardo
(Hospital Clínico San Carlos (Madrid))
Barragán, Eva (Hospital Universitari i Politècnic La Fe (València))
Sargas, Claudia (Hospital Universitari i Politècnic La Fe (València))
Ferrer-Marín, Francisco (Hospital General Universitario Morales Meseguer (Múrcia))
Sánchez-Calero, Jorge (Hospital Universitario de Móstoles (Madrid))
Sevilla, Julián
(Hospital Infantil Universitario Niño Jesús (Madrid))
Ruíz, Elena (Hospital del Tajo (Madrid))
Villalón, Lucía (Hospital Universitario Fundación Alcorcón)
Herráez, María del Mar (Hospital Santa Bárbara (Puertollano, Ciutat Real))
Riaza, Rosalía (Hospital Universitario Severo Ochoa)
Magro, Elena (Hospital Universitario Príncipe de Asturias (Alcalá de Henares, Madrid))
Steegman, Juan Luís (Hospital Universitario de la Princesa (Madrid))
Wang, Chongwu (Hosea Precision Medical Technology (Xina))
de Toledo, Paula (Universidad Carlos III de Madrid. Departamento de Informática e Ingeniería)
García-Gutiérrez, Valentín (Instituto Ramón y Cajal de Investigación Sanitaria (Madrid))
Ayala, Rosa
(Centro de Investigación Biomédica en Red de Cáncer)
Ribera, Jose-Maria
(Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Barrio, Santiago (Altum Sequencing (Madrid))
Martínez-López, Joaquín
(Centro de Investigación Biomédica en Red de Cáncer)
Universitat Autònoma de Barcelona
Date: |
2022 |
Abstract: |
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 (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. |
Rights: |
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Language: |
Anglès |
Document: |
Article ; recerca ; Versió publicada |
Subject: |
DNA ;
Drug Resistance, Neoplasm ;
Fusion Proteins, bcr-abl ;
Genomics ;
High-Throughput Nucleotide Sequencing ;
Humans ;
Leukemia, Myelogenous, Chronic, BCR-ABL Positive ;
Mutation ;
Precursor Cell Lymphoblastic Leukemia-Lymphoma ;
Protein Kinase Inhibitors |
Published in: |
Scientific reports, Vol. 12 Núm. 1 (december 2022) , p. 13057, ISSN 2045-2322 |
Related work: |
Sánchez, Ricardo; Dorado, Sara; Ruíz-Heredia, Yanira; [et al.]. «Author Correction : Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA». Scientific reports, Vol. 14 (march 2024) https://doi.org/10.1038/s41598-024-57570-5 |
Correcció de l'article: https://ddd.uab.cat/record/294067
DOI: 10.1038/s41598-022-17271-3
PMID: 35906470
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Record created 2023-01-17, last modified 2024-08-19