BRAF V600E Mutation and 9p21: CDKN2A/B and MTAP Co-Deletions - Markers in the Clinical Stratification of Pediatric Gliomas

Detalhes bibliográficos
Autor(a) principal: Frazão, L
Data de Publicação: 2018
Outros Autores: Martins, MC, Nunes, VM, Pimentel, J, Faria, C, Miguéns, J, Sagarribay, A, Matos, M, Salgado, D, Nunes, S, Mafra, M, Roque, L
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.17/3239
Resumo: Genetic alterations in pediatric primary brain tumors can be used as diagnostic and prognostic markers and are the basis for the development of new target therapies that, ideally, would be associated with lower mortality and morbidity. This study evaluates the incidence and interplay of the presence of BRAF V600E mutation and chromosomal 9p21 deletions in a series of 100 pediatric gliomas, aiming to determine the role of these alterations in recurrence and malignant transformation, and to verify if they could be used in the clinical set for stratifying patients for tailored therapies and surveillance.
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spelling BRAF V600E Mutation and 9p21: CDKN2A/B and MTAP Co-Deletions - Markers in the Clinical Stratification of Pediatric GliomasAdolescentBrain NeoplasmsChildChild, PreschoolChromosomes, Human, Pair 9Cohort StudiesCyclin-Dependent Kinase Inhibitor p15Cyclin-Dependent Kinase Inhibitor p16FemaleGene DeletionGliomaHumansIn Situ Hybridization, FluorescenceInfantMalePhosphorylasesProto-Oncogene Proteins B-rafSequence Analysis, DNAMutationHDE NCIRGenetic alterations in pediatric primary brain tumors can be used as diagnostic and prognostic markers and are the basis for the development of new target therapies that, ideally, would be associated with lower mortality and morbidity. This study evaluates the incidence and interplay of the presence of BRAF V600E mutation and chromosomal 9p21 deletions in a series of 100 pediatric gliomas, aiming to determine the role of these alterations in recurrence and malignant transformation, and to verify if they could be used in the clinical set for stratifying patients for tailored therapies and surveillance.BMCRepositório do Centro Hospitalar Universitário de Lisboa Central, EPEFrazão, LMartins, MCNunes, VMPimentel, JFaria, CMiguéns, JSagarribay, AMatos, MSalgado, DNunes, SMafra, MRoque, L2019-04-08T11:08:47Z2018-12-172018-12-17T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/3239engBMC Cancer. 2018 Dec 17;18(1):125910.1186/s12885-018-5120-0info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-03-10T09:41:58Zoai:repositorio.chlc.min-saude.pt:10400.17/3239Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:20:33.900100Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv BRAF V600E Mutation and 9p21: CDKN2A/B and MTAP Co-Deletions - Markers in the Clinical Stratification of Pediatric Gliomas
title BRAF V600E Mutation and 9p21: CDKN2A/B and MTAP Co-Deletions - Markers in the Clinical Stratification of Pediatric Gliomas
spellingShingle BRAF V600E Mutation and 9p21: CDKN2A/B and MTAP Co-Deletions - Markers in the Clinical Stratification of Pediatric Gliomas
Frazão, L
Adolescent
Brain Neoplasms
Child
Child, Preschool
Chromosomes, Human, Pair 9
Cohort Studies
Cyclin-Dependent Kinase Inhibitor p15
Cyclin-Dependent Kinase Inhibitor p16
Female
Gene Deletion
Glioma
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Phosphorylases
Proto-Oncogene Proteins B-raf
Sequence Analysis, DNA
Mutation
HDE NCIR
title_short BRAF V600E Mutation and 9p21: CDKN2A/B and MTAP Co-Deletions - Markers in the Clinical Stratification of Pediatric Gliomas
title_full BRAF V600E Mutation and 9p21: CDKN2A/B and MTAP Co-Deletions - Markers in the Clinical Stratification of Pediatric Gliomas
title_fullStr BRAF V600E Mutation and 9p21: CDKN2A/B and MTAP Co-Deletions - Markers in the Clinical Stratification of Pediatric Gliomas
title_full_unstemmed BRAF V600E Mutation and 9p21: CDKN2A/B and MTAP Co-Deletions - Markers in the Clinical Stratification of Pediatric Gliomas
title_sort BRAF V600E Mutation and 9p21: CDKN2A/B and MTAP Co-Deletions - Markers in the Clinical Stratification of Pediatric Gliomas
author Frazão, L
author_facet Frazão, L
Martins, MC
Nunes, VM
Pimentel, J
Faria, C
Miguéns, J
Sagarribay, A
Matos, M
Salgado, D
Nunes, S
Mafra, M
Roque, L
author_role author
author2 Martins, MC
Nunes, VM
Pimentel, J
Faria, C
Miguéns, J
Sagarribay, A
Matos, M
Salgado, D
Nunes, S
Mafra, M
Roque, L
author2_role author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE
dc.contributor.author.fl_str_mv Frazão, L
Martins, MC
Nunes, VM
Pimentel, J
Faria, C
Miguéns, J
Sagarribay, A
Matos, M
Salgado, D
Nunes, S
Mafra, M
Roque, L
dc.subject.por.fl_str_mv Adolescent
Brain Neoplasms
Child
Child, Preschool
Chromosomes, Human, Pair 9
Cohort Studies
Cyclin-Dependent Kinase Inhibitor p15
Cyclin-Dependent Kinase Inhibitor p16
Female
Gene Deletion
Glioma
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Phosphorylases
Proto-Oncogene Proteins B-raf
Sequence Analysis, DNA
Mutation
HDE NCIR
topic Adolescent
Brain Neoplasms
Child
Child, Preschool
Chromosomes, Human, Pair 9
Cohort Studies
Cyclin-Dependent Kinase Inhibitor p15
Cyclin-Dependent Kinase Inhibitor p16
Female
Gene Deletion
Glioma
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Phosphorylases
Proto-Oncogene Proteins B-raf
Sequence Analysis, DNA
Mutation
HDE NCIR
description Genetic alterations in pediatric primary brain tumors can be used as diagnostic and prognostic markers and are the basis for the development of new target therapies that, ideally, would be associated with lower mortality and morbidity. This study evaluates the incidence and interplay of the presence of BRAF V600E mutation and chromosomal 9p21 deletions in a series of 100 pediatric gliomas, aiming to determine the role of these alterations in recurrence and malignant transformation, and to verify if they could be used in the clinical set for stratifying patients for tailored therapies and surveillance.
publishDate 2018
dc.date.none.fl_str_mv 2018-12-17
2018-12-17T00:00:00Z
2019-04-08T11:08:47Z
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.uri.fl_str_mv http://hdl.handle.net/10400.17/3239
url http://hdl.handle.net/10400.17/3239
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv BMC Cancer. 2018 Dec 17;18(1):1259
10.1186/s12885-018-5120-0
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv BMC
publisher.none.fl_str_mv BMC
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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