Molecular <i>BCR::ABL1</i> Quantification and <i>ABL1</i> Mutation Detection as Essential Tools for the Clinical Management of Chronic Myeloid Leukemia Patients: Results from a Brazilian Single-Center Study
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 <i>BCR::ABL1</i> protein. This translocation represents one of the milestones in molecular oncology in terms of bot...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-06-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/24/12/10118 |
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| author | Anelis Maria Marin Denise Kusma Wosniaki Heloisa Bruna Soligo Sanchuki Eduardo Cilião Munhoz Jeanine Marie Nardin Gabriela Silva Soares Dhienifer Caroline Espinace João Samuel de Holanda Farias Bruna Veroneze Luiz Felipe Becker Guilherme Lima Costa Olair Carlos Beltrame Jaqueline Carvalho de Oliveira Geison Cambri Dalila Luciola Zanette Mateus Nóbrega Aoki |
| author_facet | Anelis Maria Marin Denise Kusma Wosniaki Heloisa Bruna Soligo Sanchuki Eduardo Cilião Munhoz Jeanine Marie Nardin Gabriela Silva Soares Dhienifer Caroline Espinace João Samuel de Holanda Farias Bruna Veroneze Luiz Felipe Becker Guilherme Lima Costa Olair Carlos Beltrame Jaqueline Carvalho de Oliveira Geison Cambri Dalila Luciola Zanette Mateus Nóbrega Aoki |
| author_sort | Anelis Maria Marin |
| collection | DOAJ |
| description | 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 <i>BCR::ABL1</i> protein. This translocation represents one of the milestones in molecular oncology in terms of both diagnostic and prognostic evaluations. The molecular detection of the <i>BCR::ABL1</i> 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 <i>ABL1</i> 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 <i>BCR::ABL1</i> 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. <i>BCR::ABL1</i> quantification by a duplex-one-step RT-qPCR and <i>ABL1</i> mutations detection were conducted. Furthermore, digital PCR for both <i>BCR::ABL1</i> expression and <i>ABL1</i> 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-effectiveness. |
| first_indexed | 2024-03-11T02:21:19Z |
| format | Article |
| id | doaj.art-57182764aaf44b7b9615037b4bd0d536 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-11T02:21:19Z |
| publishDate | 2023-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-57182764aaf44b7b9615037b4bd0d5362023-11-18T10:48:54ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-06-0124121011810.3390/ijms241210118Molecular <i>BCR::ABL1</i> Quantification and <i>ABL1</i> Mutation Detection as Essential Tools for the Clinical Management of Chronic Myeloid Leukemia Patients: Results from a Brazilian Single-Center StudyAnelis Maria Marin0Denise Kusma Wosniaki1Heloisa Bruna Soligo Sanchuki2Eduardo Cilião Munhoz3Jeanine Marie Nardin4Gabriela Silva Soares5Dhienifer Caroline Espinace6João Samuel de Holanda Farias7Bruna Veroneze8Luiz Felipe Becker9Guilherme Lima Costa10Olair Carlos Beltrame11Jaqueline Carvalho de Oliveira12Geison Cambri13Dalila Luciola Zanette14Mateus Nóbrega Aoki15Laboratory for Applied Science and Technology in Health, Carlos Chagas Institute, Oswaldo Cruz Foundation (Fiocruz), Curitiba 81350-010, BrazilLaboratory for Applied Science and Technology in Health, Carlos Chagas Institute, Oswaldo Cruz Foundation (Fiocruz), Curitiba 81350-010, BrazilLaboratory for Applied Science and Technology in Health, Carlos Chagas Institute, Oswaldo Cruz Foundation (Fiocruz), Curitiba 81350-010, BrazilErasto Gaertner Hospital, Curitiba 81520-060, BrazilErasto Gaertner Hospital, Curitiba 81520-060, BrazilLaboratory for Applied Science and Technology in Health, Carlos Chagas Institute, Oswaldo Cruz Foundation (Fiocruz), Curitiba 81350-010, BrazilLaboratory for Applied Science and Technology in Health, Carlos Chagas Institute, Oswaldo Cruz Foundation (Fiocruz), Curitiba 81350-010, BrazilErasto Gaertner Hospital, Curitiba 81520-060, BrazilErasto Gaertner Hospital, Curitiba 81520-060, BrazilErasto Gaertner Hospital, Curitiba 81520-060, BrazilErasto Gaertner Hospital, Curitiba 81520-060, BrazilErasto Gaertner Hospital, Curitiba 81520-060, BrazilDepartment of Genetics, Federal University of Parana, Curitiba 81531-980, BrazilInstituto de Biologia Molecular do Paraná (IBMP), Curitiba 81350-010, BrazilLaboratory for Applied Science and Technology in Health, Carlos Chagas Institute, Oswaldo Cruz Foundation (Fiocruz), Curitiba 81350-010, BrazilLaboratory for Applied Science and Technology in Health, Carlos Chagas Institute, Oswaldo Cruz Foundation (Fiocruz), Curitiba 81350-010, BrazilChronic myeloid leukemia (CML) is a well-characterized oncological disease in which virtually all patients possess a translocation (9;22) that generates the tyrosine kinase <i>BCR::ABL1</i> protein. This translocation represents one of the milestones in molecular oncology in terms of both diagnostic and prognostic evaluations. The molecular detection of the <i>BCR::ABL1</i> 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 <i>ABL1</i> 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 <i>BCR::ABL1</i> 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. <i>BCR::ABL1</i> quantification by a duplex-one-step RT-qPCR and <i>ABL1</i> mutations detection were conducted. Furthermore, digital PCR for both <i>BCR::ABL1</i> expression and <i>ABL1</i> 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-effectiveness.https://www.mdpi.com/1422-0067/24/12/10118chronic myeloid leukemia<i>BCR::ABL1</i><i>ABL1</i> mutationTKIprognostic |
| spellingShingle | Anelis Maria Marin Denise Kusma Wosniaki Heloisa Bruna Soligo Sanchuki Eduardo Cilião Munhoz Jeanine Marie Nardin Gabriela Silva Soares Dhienifer Caroline Espinace João Samuel de Holanda Farias Bruna Veroneze Luiz Felipe Becker Guilherme Lima Costa Olair Carlos Beltrame Jaqueline Carvalho de Oliveira Geison Cambri Dalila Luciola Zanette Mateus Nóbrega Aoki Molecular <i>BCR::ABL1</i> Quantification and <i>ABL1</i> Mutation Detection as Essential Tools for the Clinical Management of Chronic Myeloid Leukemia Patients: Results from a Brazilian Single-Center Study International Journal of Molecular Sciences chronic myeloid leukemia <i>BCR::ABL1</i> <i>ABL1</i> mutation TKI prognostic |
| title | Molecular <i>BCR::ABL1</i> Quantification and <i>ABL1</i> Mutation Detection as Essential Tools for the Clinical Management of Chronic Myeloid Leukemia Patients: Results from a Brazilian Single-Center Study |
| title_full | Molecular <i>BCR::ABL1</i> Quantification and <i>ABL1</i> Mutation Detection as Essential Tools for the Clinical Management of Chronic Myeloid Leukemia Patients: Results from a Brazilian Single-Center Study |
| title_fullStr | Molecular <i>BCR::ABL1</i> Quantification and <i>ABL1</i> 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 <i>BCR::ABL1</i> Quantification and <i>ABL1</i> Mutation Detection as Essential Tools for the Clinical Management of Chronic Myeloid Leukemia Patients: Results from a Brazilian Single-Center Study |
| title_short | Molecular <i>BCR::ABL1</i> Quantification and <i>ABL1</i> Mutation Detection as Essential Tools for the Clinical Management of Chronic Myeloid Leukemia Patients: Results from a Brazilian Single-Center Study |
| title_sort | molecular i bcr abl1 i quantification and i abl1 i mutation detection as essential tools for the clinical management of chronic myeloid leukemia patients results from a brazilian single center study |
| topic | chronic myeloid leukemia <i>BCR::ABL1</i> <i>ABL1</i> mutation TKI prognostic |
| url | https://www.mdpi.com/1422-0067/24/12/10118 |
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