Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis

Detalhes bibliográficos
Autor(a) principal: Batista-Gomes, Jéssica Almeida
Data de Publicação: 2020
Outros Autores: 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
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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spelling 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
dc.source.none.fl_str_mv reponame:Repositório Digital do Instituto Evandro Chagas (Patuá)
instname:Instituto Evandro Chagas (IEC)
instacron:IEC
instname_str Instituto Evandro Chagas (IEC)
instacron_str IEC
institution IEC
reponame_str Repositório Digital do Instituto Evandro Chagas (Patuá)
collection Repositório Digital do Instituto Evandro Chagas (Patuá)
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