Molecular BCR::ABL1 quantification and ABL1 mutation detection as essential tools for the clinical management of chronic myeloid leukemia patients: results from a Brazilian single-center study
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2023 |
| Outros Autores: | , , , , , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | por |
| Título da fonte: | Repositório Institucional da FIOCRUZ (ARCA) |
| Texto Completo: | https://www.arca.fiocruz.br/handle/icict/59733 https:// doi.org/10.3390/ijms241210118 |
Resumo: | Fundação Oswaldo Cruz. Instituto Carlos Chagas. Laboratório de Ciencias e Tecnologias Aplicadas em Saúde. Curitiba, PR, Brasil. |
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Marin, Anelis MariaWosniaki, Denise KusmaSanchuki, Heloisa Bruna SoligoMunhoz, Eduardo CiliãoNardin, Jeanine MarieSoares, Gabriela SilvaEspinace, Dhienifer CarolineFarias, João Samuel de HolandaVeroneze, BrunaBecker, Luiz FelipeCosta, Guilherme LimaBeltrame, Olair CarlosOliveira, Jaqueline Carvalho deCambri, GeisonZanette, Dalila LuciolaAoki, Mateus Nóbrega2023-07-24T19:51:02Z2023-07-24T19:51:02Z2023MARIN, Anelis Maria et al. Molecular BCR::ABL1 quantification and ABL1 mutation detection as essential tools for the clinical management of chronic myeloid leukemia patients: results from a Brazilian single-center study. Viruses, v. 285, n. 104955, p. 1-13, 2023.1422-0067https://www.arca.fiocruz.br/handle/icict/59733https:// doi.org/10.3390/ijms241210118porMDPIMolecular BCR::ABL1 quantification and ABL1 mutation detection as essential tools for the clinical management of chronic myeloid leukemia patients: results from a Brazilian single-center studyinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação Oswaldo Cruz. Instituto Carlos Chagas. Laboratório de Ciencias e Tecnologias Aplicadas em Saúde. Curitiba, PR, Brasil.Fundação Oswaldo Cruz. Instituto Carlos Chagas. Laboratório de Ciencias e Tecnologias Aplicadas em Saúde. Curitiba, PR, Brasil.Fundação Oswaldo Cruz. Instituto Carlos Chagas. Laboratório de Ciencias e Tecnologias Aplicadas em Saúde. Curitiba, PR, Brasil.Hospital Erasto Gaertner. Curitiba, PR, Brasil.Hospital Erasto Gaertner. Curitiba, PR, Brasil.Fundação Oswaldo Cruz. Instituto Carlos Chagas. Laboratório de Ciencias e Tecnologias Aplicadas em Saúde. Curitiba, PR, Brasil.Fundação Oswaldo Cruz. Instituto Carlos Chagas. Laboratório de Ciencias e Tecnologias Aplicadas em Saúde. Curitiba, PR, Brasil.Hospital Erasto Gaertner. Curitiba, PR, Brasil.Hospital Erasto Gaertner. Curitiba, PR, Brasil.Hospital Erasto Gaertner. Curitiba, PR, Brasil.Hospital Erasto Gaertner. Curitiba, PR, Brasil.Hospital Erasto Gaertner. Curitiba, PR, Brasil.Universidade Federal do Paraná. Departamento de Genética. Curitiba, PR, Brasil.Instituto de Biologia Molecular do Paraná. Curitiba, PR, Brasil.Fundação Oswaldo Cruz. Instituto Carlos Chagas. Laboratório de Ciencias e Tecnologias Aplicadas em Saúde. Curitiba, PR, Brasil.Fundação Oswaldo Cruz. Instituto Carlos Chagas. Laboratório de Ciencias e Tecnologias Aplicadas em Saúde. Curitiba, PR, Brasil.Chronic myeloid leukemia (CML) is a well-characterized oncological disease in which virtually all patients possess a translocation (9;22) that generates the tyrosine kinase BCR::ABL1 protein. This translocation represents one of the milestones in molecular oncology in terms of both diagnostic and prognostic evaluations. The molecular detection of the BCR::ABL1 transcription is a required factor for CML diagnosis, and its molecular quantification is essential for assessing treatment options and clinical approaches. In the CML molecular context, point mutations on the ABL1 gene are also a challenge for clinical guidelines because several mutations are responsible for tyrosine kinase inhibitor resistance, indicating that a change may be necessary in the treatment protocol. So far, the European LeukemiaNet and the National Comprehensive Cancer Network (NCCN) have presented international guidelines on CML molecular approaches, especially those related to BCR::ABL1 expression. In this study, we show almost three years’ worth of data regarding the clinical treatment of CML patients at the Erasto Gaertner Hospital, Curitiba, Brazil. These data primarily comprise 155 patients and 532 clinical samples. BCR::ABL1 quantification by a duplexone-step RT-qPCR and ABL1 mutations detection were conducted. Furthermore, digital PCR for both BCR::ABL1 expression and ABL1 mutations were conducted in a sub-cohort. This manuscript describes and discusses the clinical importance and relevance of molecular biology testing in Brazilian CML patients, demonstrating its cost-effectivenessFusion Proteins, bcr-ablABL1 mutationLeukemia, Myeloid, Chronic-PhasePrognosisProteínas de Fusión bcr-ablLeucemia Mieloide de Fase CrónicaPronósticoProtéines de fusion bcr-ablLeucémie myéloïde en phase chroniquePronosticProteínas de Fusão bcr-ablLeucemia Mieloide de Fase CrônicaPrognósticoinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/59733/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALijms-24-101ok.pdfijms-24-101ok.pdfapplication/pdf3902495https://www.arca.fiocruz.br/bitstream/icict/59733/2/ijms-24-101ok.pdf2d97b44ad91f4d67568b4bc4baddf035MD52icict/597332023-07-24 16:51:03.369oai:www.arca.fiocruz.br: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ório 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| dc.title.en_US.fl_str_mv |
Molecular BCR::ABL1 quantification and ABL1 mutation detection as essential tools for the clinical management of chronic myeloid leukemia patients: results from a Brazilian single-center study |
| title |
Molecular BCR::ABL1 quantification and ABL1 mutation detection as essential tools for the clinical management of chronic myeloid leukemia patients: results from a Brazilian single-center study |
| spellingShingle |
Molecular BCR::ABL1 quantification and ABL1 mutation detection as essential tools for the clinical management of chronic myeloid leukemia patients: results from a Brazilian single-center study Marin, Anelis Maria Fusion Proteins, bcr-abl ABL1 mutation Leukemia, Myeloid, Chronic-Phase Prognosis Proteínas de Fusión bcr-abl Leucemia Mieloide de Fase Crónica Pronóstico Protéines de fusion bcr-abl Leucémie myéloïde en phase chronique Pronostic Proteínas de Fusão bcr-abl Leucemia Mieloide de Fase Crônica Prognóstico |
| title_short |
Molecular BCR::ABL1 quantification and ABL1 mutation detection as essential tools for the clinical management of chronic myeloid leukemia patients: results from a Brazilian single-center study |
| title_full |
Molecular BCR::ABL1 quantification and ABL1 mutation detection as essential tools for the clinical management of chronic myeloid leukemia patients: results from a Brazilian single-center study |
| title_fullStr |
Molecular BCR::ABL1 quantification and ABL1 mutation detection as essential tools for the clinical management of chronic myeloid leukemia patients: results from a Brazilian single-center study |
| title_full_unstemmed |
Molecular BCR::ABL1 quantification and ABL1 mutation detection as essential tools for the clinical management of chronic myeloid leukemia patients: results from a Brazilian single-center study |
| title_sort |
Molecular BCR::ABL1 quantification and ABL1 mutation detection as essential tools for the clinical management of chronic myeloid leukemia patients: results from a Brazilian single-center study |
| author |
Marin, Anelis Maria |
| author_facet |
Marin, Anelis Maria Wosniaki, Denise Kusma Sanchuki, Heloisa Bruna Soligo Munhoz, Eduardo Cilião Nardin, Jeanine Marie Soares, Gabriela Silva Espinace, Dhienifer Caroline Farias, João Samuel de Holanda Veroneze, Bruna Becker, Luiz Felipe Costa, Guilherme Lima Beltrame, Olair Carlos Oliveira, Jaqueline Carvalho de Cambri, Geison Zanette, Dalila Luciola Aoki, Mateus Nóbrega |
| author_role |
author |
| author2 |
Wosniaki, Denise Kusma Sanchuki, Heloisa Bruna Soligo Munhoz, Eduardo Cilião Nardin, Jeanine Marie Soares, Gabriela Silva Espinace, Dhienifer Caroline Farias, João Samuel de Holanda Veroneze, Bruna Becker, Luiz Felipe Costa, Guilherme Lima Beltrame, Olair Carlos Oliveira, Jaqueline Carvalho de Cambri, Geison Zanette, Dalila Luciola Aoki, Mateus Nóbrega |
| author2_role |
author author author author author author author author author author author author author author author |
| dc.contributor.author.fl_str_mv |
Marin, Anelis Maria Wosniaki, Denise Kusma Sanchuki, Heloisa Bruna Soligo Munhoz, Eduardo Cilião Nardin, Jeanine Marie Soares, Gabriela Silva Espinace, Dhienifer Caroline Farias, João Samuel de Holanda Veroneze, Bruna Becker, Luiz Felipe Costa, Guilherme Lima Beltrame, Olair Carlos Oliveira, Jaqueline Carvalho de Cambri, Geison Zanette, Dalila Luciola Aoki, Mateus Nóbrega |
| dc.subject.en.en_US.fl_str_mv |
Fusion Proteins, bcr-abl ABL1 mutation Leukemia, Myeloid, Chronic-Phase Prognosis |
| topic |
Fusion Proteins, bcr-abl ABL1 mutation Leukemia, Myeloid, Chronic-Phase Prognosis Proteínas de Fusión bcr-abl Leucemia Mieloide de Fase Crónica Pronóstico Protéines de fusion bcr-abl Leucémie myéloïde en phase chronique Pronostic Proteínas de Fusão bcr-abl Leucemia Mieloide de Fase Crônica Prognóstico |
| dc.subject.es.en_US.fl_str_mv |
Proteínas de Fusión bcr-abl Leucemia Mieloide de Fase Crónica Pronóstico |
| dc.subject.fr.en_US.fl_str_mv |
Protéines de fusion bcr-abl Leucémie myéloïde en phase chronique Pronostic |
| dc.subject.decs.en_US.fl_str_mv |
Proteínas de Fusão bcr-abl Leucemia Mieloide de Fase Crônica Prognóstico |
| description |
Fundação Oswaldo Cruz. Instituto Carlos Chagas. Laboratório de Ciencias e Tecnologias Aplicadas em Saúde. Curitiba, PR, Brasil. |
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2023 |
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2023-07-24T19:51:02Z |
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2023-07-24T19:51:02Z |
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2023 |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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MARIN, Anelis Maria et al. Molecular BCR::ABL1 quantification and ABL1 mutation detection as essential tools for the clinical management of chronic myeloid leukemia patients: results from a Brazilian single-center study. Viruses, v. 285, n. 104955, p. 1-13, 2023. |
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https://www.arca.fiocruz.br/handle/icict/59733 |
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1422-0067 |
| dc.identifier.doi.none.fl_str_mv |
https:// doi.org/10.3390/ijms241210118 |
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MARIN, Anelis Maria et al. Molecular BCR::ABL1 quantification and ABL1 mutation detection as essential tools for the clinical management of chronic myeloid leukemia patients: results from a Brazilian single-center study. Viruses, v. 285, n. 104955, p. 1-13, 2023. 1422-0067 |
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https://www.arca.fiocruz.br/handle/icict/59733 https:// doi.org/10.3390/ijms241210118 |
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por |
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MDPI |
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