Association between Germline Single-Nucleotide Variants in ADME Genes and Major Molecular Response to Imatinib in Chronic Myeloid Leukemia Patients

Chronic myeloid leukemia; Imatinib; Single-nucleotide polymorphisms

Detalhes bibliográficos
Autores: Estrada, Natalia, Palomo Diaz, Laura, García, Olga, Vélez, Patricia, Ferrer-Marin, Francisca, Zamora, Lurdes
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Recursos:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:11351/8529
Acesso em linha:https://hdl.handle.net/11351/8529
http://hdl.handle.net/11351/8529
Access Level:acceso abierto
Palavra-chave:Leucèmia mieloide crònica - Tractament
Proteïnes quinases - Inhibidors - Ús terapèutic
DISEASES::Neoplasms::Neoplasms by Histologic Type::Leukemia::Leukemia, Myeloid
Other subheadings::Other subheadings::Other subheadings::/drug therapy
CHEMICALS AND DRUGS::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Tyrosine Kinases
Other subheadings::Other subheadings::Other subheadings::/antagonists & inhibitors
ENFERMEDADES::neoplasias::neoplasias por tipo histológico::leucemia::leucemia mieloide
Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia
COMPUESTOS QUÍMICOS Y DROGAS::enzimas y coenzimas::enzimas::transferasas::fosfotransferasas::fosfotransferasas (grupo alcohol aceptor)::proteína cinasas::proteína-tirosina cinasas
Otros calificadores::Otros calificadores::Otros calificadores::/antagonistas & inhibidores
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oai_identifier_str oai:recercat.cat:11351/8529
network_acronym_str ES
network_name_str España
repository_id_str
dc.title.none.fl_str_mv Association between Germline Single-Nucleotide Variants in ADME Genes and Major Molecular Response to Imatinib in Chronic Myeloid Leukemia Patients
title Association between Germline Single-Nucleotide Variants in ADME Genes and Major Molecular Response to Imatinib in Chronic Myeloid Leukemia Patients
spellingShingle Association between Germline Single-Nucleotide Variants in ADME Genes and Major Molecular Response to Imatinib in Chronic Myeloid Leukemia Patients
Estrada, Natalia
Leucèmia mieloide crònica - Tractament
Proteïnes quinases - Inhibidors - Ús terapèutic
DISEASES::Neoplasms::Neoplasms by Histologic Type::Leukemia::Leukemia, Myeloid
Other subheadings::Other subheadings::Other subheadings::/drug therapy
CHEMICALS AND DRUGS::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Tyrosine Kinases
Other subheadings::Other subheadings::Other subheadings::/antagonists & inhibitors
ENFERMEDADES::neoplasias::neoplasias por tipo histológico::leucemia::leucemia mieloide
Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia
COMPUESTOS QUÍMICOS Y DROGAS::enzimas y coenzimas::enzimas::transferasas::fosfotransferasas::fosfotransferasas (grupo alcohol aceptor)::proteína cinasas::proteína-tirosina cinasas
Otros calificadores::Otros calificadores::Otros calificadores::/antagonistas & inhibidores
title_short Association between Germline Single-Nucleotide Variants in ADME Genes and Major Molecular Response to Imatinib in Chronic Myeloid Leukemia Patients
title_full Association between Germline Single-Nucleotide Variants in ADME Genes and Major Molecular Response to Imatinib in Chronic Myeloid Leukemia Patients
title_fullStr Association between Germline Single-Nucleotide Variants in ADME Genes and Major Molecular Response to Imatinib in Chronic Myeloid Leukemia Patients
title_full_unstemmed Association between Germline Single-Nucleotide Variants in ADME Genes and Major Molecular Response to Imatinib in Chronic Myeloid Leukemia Patients
title_sort Association between Germline Single-Nucleotide Variants in ADME Genes and Major Molecular Response to Imatinib in Chronic Myeloid Leukemia Patients
dc.creator.none.fl_str_mv Estrada, Natalia
Palomo Diaz, Laura
García, Olga
Vélez, Patricia
Ferrer-Marin, Francisca
Zamora, Lurdes
author Estrada, Natalia
author_facet Estrada, Natalia
Palomo Diaz, Laura
García, Olga
Vélez, Patricia
Ferrer-Marin, Francisca
Zamora, Lurdes
author_role author
author2 Palomo Diaz, Laura
García, Olga
Vélez, Patricia
Ferrer-Marin, Francisca
Zamora, Lurdes
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Institut Català de la Salut
[Estrada N, Zamora L, García O] Myeloid Neoplasms Group, Josep Carreras Leukaemia Research Institute, ICO-Hospital Germans Trias i Pujol, Universitat Autònoma de Barcelona, Badalona, Spain. [Ferrer-Marín F] Hospital General Universitario Morales Meseguer, CIBERER (CB15/00055), IMIB-Pascual Parrilla, UCAM, Murcia, Spain. [Palomo L] MDS Group, Josep Carreras Leukaemia Research Institute, ICO-Hospital Germans Trias i Pujol, Universitat Autònoma de Barcelona, Badalona, Spain. Experimental Hematology, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. [Vélez P] ICO-Hospital Duran y Reynals, Barcelona, Spain
Vall d'Hebron Barcelona Hospital Campus
dc.subject.none.fl_str_mv Leucèmia mieloide crònica - Tractament
Proteïnes quinases - Inhibidors - Ús terapèutic
DISEASES::Neoplasms::Neoplasms by Histologic Type::Leukemia::Leukemia, Myeloid
Other subheadings::Other subheadings::Other subheadings::/drug therapy
CHEMICALS AND DRUGS::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Tyrosine Kinases
Other subheadings::Other subheadings::Other subheadings::/antagonists & inhibitors
ENFERMEDADES::neoplasias::neoplasias por tipo histológico::leucemia::leucemia mieloide
Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia
COMPUESTOS QUÍMICOS Y DROGAS::enzimas y coenzimas::enzimas::transferasas::fosfotransferasas::fosfotransferasas (grupo alcohol aceptor)::proteína cinasas::proteína-tirosina cinasas
Otros calificadores::Otros calificadores::Otros calificadores::/antagonistas & inhibidores
topic Leucèmia mieloide crònica - Tractament
Proteïnes quinases - Inhibidors - Ús terapèutic
DISEASES::Neoplasms::Neoplasms by Histologic Type::Leukemia::Leukemia, Myeloid
Other subheadings::Other subheadings::Other subheadings::/drug therapy
CHEMICALS AND DRUGS::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Tyrosine Kinases
Other subheadings::Other subheadings::Other subheadings::/antagonists & inhibitors
ENFERMEDADES::neoplasias::neoplasias por tipo histológico::leucemia::leucemia mieloide
Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia
COMPUESTOS QUÍMICOS Y DROGAS::enzimas y coenzimas::enzimas::transferasas::fosfotransferasas::fosfotransferasas (grupo alcohol aceptor)::proteína cinasas::proteína-tirosina cinasas
Otros calificadores::Otros calificadores::Otros calificadores::/antagonistas & inhibidores
description Chronic myeloid leukemia; Imatinib; Single-nucleotide polymorphisms
publishDate 2022
dc.date.none.fl_str_mv 2022
2022
2022
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/11351/8529
http://hdl.handle.net/11351/8529
url https://hdl.handle.net/11351/8529
http://hdl.handle.net/11351/8529
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Journal of Clinical Medicine;11(20)
https://doi.org/10.3390/jcm11206217
dc.rights.none.fl_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv Scientia
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869405459786498048
spelling Association between Germline Single-Nucleotide Variants in ADME Genes and Major Molecular Response to Imatinib in Chronic Myeloid Leukemia PatientsEstrada, NataliaPalomo Diaz, LauraGarcía, OlgaVélez, PatriciaFerrer-Marin, FranciscaZamora, LurdesLeucèmia mieloide crònica - TractamentProteïnes quinases - Inhibidors - Ús terapèuticDISEASES::Neoplasms::Neoplasms by Histologic Type::Leukemia::Leukemia, MyeloidOther subheadings::Other subheadings::Other subheadings::/drug therapyCHEMICALS AND DRUGS::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Tyrosine KinasesOther subheadings::Other subheadings::Other subheadings::/antagonists & inhibitorsENFERMEDADES::neoplasias::neoplasias por tipo histológico::leucemia::leucemia mieloideOtros calificadores::Otros calificadores::Otros calificadores::/farmacoterapiaCOMPUESTOS QUÍMICOS Y DROGAS::enzimas y coenzimas::enzimas::transferasas::fosfotransferasas::fosfotransferasas (grupo alcohol aceptor)::proteína cinasas::proteína-tirosina cinasasOtros calificadores::Otros calificadores::Otros calificadores::/antagonistas & inhibidoresChronic myeloid leukemia; Imatinib; Single-nucleotide polymorphismsLeucèmia mieloide crònica; Imatinib; Polimorfismes d'un sol nucleòtidLeucemia mieloide crónica; Imatinib; Polimorfismos de un sólo nucleótidoImatinib is the most common first-line tyrosine kinase inhibitor (TKI) used to treat chronic-phase chronic myeloid leukemia (CP-CML). However, only a proportion of patients achieve major molecular response (MMR), so there is a need to find biological factors that aid the selection of the optimal therapeutic strategy (imatinib vs. more potent second-generation TKIs). The aim of this retrospective study was to understand the contribution of germline single-nucleotide variants (gSNVs) in the achievement of MMR with imatinib. In particular, a discovery cohort including 45 CP-CML patients was analyzed through the DMET array, which interrogates 1936 variants in 231 genes related to the absorption, distribution, metabolism and excretion (ADME) process. Variants statistically significant in the discovery cohort were then tested in an extended and independent cohort of 137 CP-CML patients. Finally, a total of 7 gSNVs (ABCG1-rs492338, ABCB11-rs496550, ABCB11-rs497692, CYP2D6-rs1135840, CYP11B1-rs7003319, MAT1A-rs4934027 and SLC22A1-rs628031) and one haplotype in the ABCB11 gene were significantly associated with the achievement of MMR with first-line imatinibtreatment. In conclusion, we identified a genetic signature of response to imatinib in CP-CML patients that could be useful in selecting those patients that may benefit from starting imatinib as first-line therapy, therefore avoiding the toxicity related to second-generation TKIs.This work was supported by Novartis Oncology (NF.5.1.2-3d.018/2014) and the Fundación Española de Hematología y Hemoterapia (FEHH-SEHH).MDPIInstitut Català de la Salut[Estrada N, Zamora L, García O] Myeloid Neoplasms Group, Josep Carreras Leukaemia Research Institute, ICO-Hospital Germans Trias i Pujol, Universitat Autònoma de Barcelona, Badalona, Spain. [Ferrer-Marín F] Hospital General Universitario Morales Meseguer, CIBERER (CB15/00055), IMIB-Pascual Parrilla, UCAM, Murcia, Spain. [Palomo L] MDS Group, Josep Carreras Leukaemia Research Institute, ICO-Hospital Germans Trias i Pujol, Universitat Autònoma de Barcelona, Badalona, Spain. Experimental Hematology, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. [Vélez P] ICO-Hospital Duran y Reynals, Barcelona, SpainVall d'Hebron Barcelona Hospital Campus202220222022info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/11351/8529http://hdl.handle.net/11351/8529Scientiareponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésJournal of Clinical Medicine;11(20)https://doi.org/10.3390/jcm11206217Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:11351/85292026-05-29T05:05:01Z
score 15,812429

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