Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Digital do Instituto Evandro Chagas (Patuá) |
Texto Completo: | https://patua.iec.gov.br/handle/iec/4116 |
Resumo: | Copy number variations (CNVs) analysis may reveal molecular biomarkers and provide information on the pathogenesis of acute lymphoblastic leukemia (ALL). We investigated the gene copy number in childhood ALL by microarray and select three new recurrent CNVs to evaluate by real-time PCR assay: DMBT1, KIAA0125 and PRDM16 were selected due to high frequency of CNVs in ALL samples and based on their potential biological functions in carcinogenesis described in the literature. DBMT1 deletion was associated with patients with chromosomal translocations and is a potential tumor suppressor; KIAA0125 and PRDM16 may act as an oncogene despite having a paradoxical behavior in carcinogenesis. This study reinforces that microarrays/aCGH is it is a powerful tool for detection of genomic aberrations, which may be used in the risk stratification |
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Batista-Gomes, Jéssica AlmeidaMello Júnior, Fernando Augusto RodriguesOliveira, Edivaldo Herculano Corrêa deSouza, Michel Platini Caldas deWanderley, Alayde VieiraPantoja, Laudreisa da CostaSantos, Ney Pereira Carneiro dosKhayat, Bruna Cláudia MeirelesKhayat, André Salim2020-07-15T17:11:49Z2020-07-15T17:11:49Z2020BATISTA-GOMES, Jéssica Almeida et al. Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis. Molecular Cytogenetics, v. 13, n. 25, p. 1-8, 2020.1755-8166https://patua.iec.gov.br/handle/iec/411610.1186/s13039-020-00491-5Copy number variations (CNVs) analysis may reveal molecular biomarkers and provide information on the pathogenesis of acute lymphoblastic leukemia (ALL). We investigated the gene copy number in childhood ALL by microarray and select three new recurrent CNVs to evaluate by real-time PCR assay: DMBT1, KIAA0125 and PRDM16 were selected due to high frequency of CNVs in ALL samples and based on their potential biological functions in carcinogenesis described in the literature. DBMT1 deletion was associated with patients with chromosomal translocations and is a potential tumor suppressor; KIAA0125 and PRDM16 may act as an oncogene despite having a paradoxical behavior in carcinogenesis. This study reinforces that microarrays/aCGH is it is a powerful tool for detection of genomic aberrations, which may be used in the risk stratificationNational Counsel of Technological and Scientific Development (CNPq), grant n° 460185/2014–4 and Amazon Foundation for Research Support (FAPESPA), grant n° PPSUS/2013.Federal University of Pará. Oncology Research Center. Belém, PA, Brazil.Ministério da Saúde. Secretaria de Vigilância em Saúde. Instituto Evandro Chagas. Ananindeua, PA, Brasil.Ministério da Saúde. Secretaria de Vigilância em Saúde. Instituto Evandro Chagas. Ananindeua, PA, Brasil.Octávio Lobo Children’s Cancer Hospital. Belém, PA, Brazil.Octávio Lobo Children’s Cancer Hospital. Belém, PA, Brazil.Federal University of Pará. Oncology Research Center. Belém, PA, Brazil.Federal University of Pará. Oncology Research Center. Belém, PA, Brazil.Federal University of Pará. Oncology Research Center. Belém, PA, Brazil.Federal University of Pará. Oncology Research Center. Belém, PA, Brazil.engBMCIdentifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysisinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleLeucemia / patologiaLeucemia-Linfoma Linfoblástico de Células Precursoras / diagnósticoBiomarcadoresAnálise CitogenéticaDoenças HematológicasVariações do Número de Cópias de DNA / genéticaAberrações Cromossômicasinfo:eu-repo/semantics/openAccessreponame:Repositório Digital do Instituto Evandro Chagas (Patuá)instname:Instituto Evandro Chagas (IEC)instacron:IECORIGINALIdentifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis.pdfIdentifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis.pdfapplication/pdf717108https://patua.iec.gov.br/bitstreams/b96dab70-147d-4595-ac56-a1355119533a/downloada076238a58ec523aa9d9bb96b79a505aMD51LICENSElicense.txtlicense.txttext/plain; charset=utf-82182https://patua.iec.gov.br/bitstreams/e4c5b2af-b258-4d4f-9293-c153b1cb84fa/download11832eea31b16df8613079d742d61793MD52TEXTIdentifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis.pdf.txtIdentifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis.pdf.txtExtracted texttext/plain39074https://patua.iec.gov.br/bitstreams/d0cecd41-6b83-4c8d-ae30-7e97868908d8/downloadfcb4ce5ea957c1bb245f6fe12ee9d3c7MD55THUMBNAILIdentifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis.pdf.jpgIdentifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis.pdf.jpgGenerated Thumbnailimage/jpeg5802https://patua.iec.gov.br/bitstreams/46a5f1b5-f18d-43b9-8306-3335477bff5e/downloade2212c2a1fd355328b02d2d8e7a8d075MD56iec/41162022-10-21 00:35:51.901oai:patua.iec.gov.br:iec/4116https://patua.iec.gov.brRepositório InstitucionalPUBhttps://patua.iec.gov.br/oai/requestclariceneta@iec.gov.br || Biblioteca@iec.gov.bropendoar:2022-10-21T00:35:51Repositório Digital do Instituto Evandro Chagas (Patuá) - 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dc.title.pt_BR.fl_str_mv |
Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis |
title |
Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis |
spellingShingle |
Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis Batista-Gomes, Jéssica Almeida Leucemia / patologia Leucemia-Linfoma Linfoblástico de Células Precursoras / diagnóstico Biomarcadores Análise Citogenética Doenças Hematológicas Variações do Número de Cópias de DNA / genética Aberrações Cromossômicas |
title_short |
Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis |
title_full |
Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis |
title_fullStr |
Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis |
title_full_unstemmed |
Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis |
title_sort |
Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis |
author |
Batista-Gomes, Jéssica Almeida |
author_facet |
Batista-Gomes, Jéssica Almeida Mello Júnior, Fernando Augusto Rodrigues Oliveira, Edivaldo Herculano Corrêa de Souza, Michel Platini Caldas de Wanderley, Alayde Vieira Pantoja, Laudreisa da Costa Santos, Ney Pereira Carneiro dos Khayat, Bruna Cláudia Meireles Khayat, André Salim |
author_role |
author |
author2 |
Mello Júnior, Fernando Augusto Rodrigues Oliveira, Edivaldo Herculano Corrêa de Souza, Michel Platini Caldas de Wanderley, Alayde Vieira Pantoja, Laudreisa da Costa Santos, Ney Pereira Carneiro dos Khayat, Bruna Cláudia Meireles Khayat, André Salim |
author2_role |
author author author author author author author author |
dc.contributor.author.fl_str_mv |
Batista-Gomes, Jéssica Almeida Mello Júnior, Fernando Augusto Rodrigues Oliveira, Edivaldo Herculano Corrêa de Souza, Michel Platini Caldas de Wanderley, Alayde Vieira Pantoja, Laudreisa da Costa Santos, Ney Pereira Carneiro dos Khayat, Bruna Cláudia Meireles Khayat, André Salim |
dc.subject.decsPrimary.pt_BR.fl_str_mv |
Leucemia / patologia Leucemia-Linfoma Linfoblástico de Células Precursoras / diagnóstico Biomarcadores Análise Citogenética Doenças Hematológicas Variações do Número de Cópias de DNA / genética Aberrações Cromossômicas |
topic |
Leucemia / patologia Leucemia-Linfoma Linfoblástico de Células Precursoras / diagnóstico Biomarcadores Análise Citogenética Doenças Hematológicas Variações do Número de Cópias de DNA / genética Aberrações Cromossômicas |
description |
Copy number variations (CNVs) analysis may reveal molecular biomarkers and provide information on the pathogenesis of acute lymphoblastic leukemia (ALL). We investigated the gene copy number in childhood ALL by microarray and select three new recurrent CNVs to evaluate by real-time PCR assay: DMBT1, KIAA0125 and PRDM16 were selected due to high frequency of CNVs in ALL samples and based on their potential biological functions in carcinogenesis described in the literature. DBMT1 deletion was associated with patients with chromosomal translocations and is a potential tumor suppressor; KIAA0125 and PRDM16 may act as an oncogene despite having a paradoxical behavior in carcinogenesis. This study reinforces that microarrays/aCGH is it is a powerful tool for detection of genomic aberrations, which may be used in the risk stratification |
publishDate |
2020 |
dc.date.accessioned.fl_str_mv |
2020-07-15T17:11:49Z |
dc.date.available.fl_str_mv |
2020-07-15T17:11:49Z |
dc.date.issued.fl_str_mv |
2020 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
BATISTA-GOMES, Jéssica Almeida et al. Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis. Molecular Cytogenetics, v. 13, n. 25, p. 1-8, 2020. |
dc.identifier.uri.fl_str_mv |
https://patua.iec.gov.br/handle/iec/4116 |
dc.identifier.issn.-.fl_str_mv |
1755-8166 |
dc.identifier.doi.-.fl_str_mv |
10.1186/s13039-020-00491-5 |
identifier_str_mv |
BATISTA-GOMES, Jéssica Almeida et al. Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis. Molecular Cytogenetics, v. 13, n. 25, p. 1-8, 2020. 1755-8166 10.1186/s13039-020-00491-5 |
url |
https://patua.iec.gov.br/handle/iec/4116 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.publisher.none.fl_str_mv |
BMC |
publisher.none.fl_str_mv |
BMC |
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reponame:Repositório Digital do Instituto Evandro Chagas (Patuá) instname:Instituto Evandro Chagas (IEC) instacron:IEC |
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Instituto Evandro Chagas (IEC) |
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IEC |
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IEC |
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Repositório Digital do Instituto Evandro Chagas (Patuá) |
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Repositório Digital do Instituto Evandro Chagas (Patuá) |
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