Study of hTERT and Histone 3 Mutations in Medulloblastoma

Detalhes bibliográficos
Autor(a) principal: Pereira, Marta Sofia Carvalho Ribeiro Viana
Data de Publicação: 2017
Outros Autores: Almeida, Gisele Caravina, Stavale, João Norberto, Malheiro, Susana, Clara, Carlos, Lobo, Patrícia, Pimentel, José, Reis, R. M.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/1822/50082
Resumo: CNPq/Universal (475358/2011-2), Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP; 2012/19590-0) and Fundação para a Ciência e Tecnologia (FCT; PTDC/SAU-ONC/115513/2009) grants to R.M.R. The project was cofinanced by Programa Operacional Regional do Norte (ON.2-O Novo Norte), Quadro de Referência Estratégico Nacional (QREN) and Fundo Europeu de Desenvol- vimento Regional (FEDER). M.V.-P. is the recipient of an FCT Post-Doctorate Research Fellowship (SFRH/BPD/104290/2014)
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spelling Study of hTERT and Histone 3 Mutations in MedulloblastomahTERTMutationsMedulloblastomaBiomarkersCiências Médicas::Medicina BásicaScience & TechnologyCNPq/Universal (475358/2011-2), Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP; 2012/19590-0) and Fundação para a Ciência e Tecnologia (FCT; PTDC/SAU-ONC/115513/2009) grants to R.M.R. The project was cofinanced by Programa Operacional Regional do Norte (ON.2-O Novo Norte), Quadro de Referência Estratégico Nacional (QREN) and Fundo Europeu de Desenvol- vimento Regional (FEDER). M.V.-P. is the recipient of an FCT Post-Doctorate Research Fellowship (SFRH/BPD/104290/2014)Hotspot activating mutations of the telomerase reverse transcriptase (hTERT) promoter region were recently described in several tumor types. These mutations lead to enhanced expression of telomerase, being responsible for telomere maintenance and allowing continuous cell division. Additionally, there are alternative telomere maintenance mechanisms, associated with histone H3 mutations, responsible for disrupting the histone code and affecting the regulation of transcription. Here, we investigated the clinical relevance of these mechanistically related molecules in nnedulloblastoma. Sixty-nine medulloblastomas, formalin fixed and paraffin embedded, from a cohort of patients aged 1.5-70 years, were used to investigate the hotspot mutations of the hTERT promoter region, i.e. H3F3A and HIST1H3B, using Sanger sequencing. We successfully sequenced hTERT in all 69 medulloblastoma samples and identified a total of 19 mutated cases (27.5%). c.-124:G>A and c.-146:G>A mutations were detected, respectively, in 16 and 3 samples. Similar to previous reports, hTERT mutations were more frequent in older patients (p < 0.0001), being found only in 5 patients <20 years of age. In addition, hTERT-mutated tumors were more frequently recurrent (p = 0.026) and hTERT mutations were significantly enriched in tumors located in the right cerebellar hemisphere (p = 0.039). No mutations were found on the H3F3A or HIST1H3B genes. hTERT promoter mutations are frequent in medulloblastoma and are associated with older patients, prone to recurrence and located in the right cerebellar hemisphere. On the other hand, histone 3 mutations do not seem to be present in nnedulloblastoma.This study was partially supported by CNPq/Universal (475358/2011-2), Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP; 2012/19590-0) and Fundacao para a Ciencia e Tecnologia (FCT; PTDC/SAU-ONC/115513/2009) grants to R.M.R. The project was cofinanced by Programa Operacional Regional do Norte (ON.2-O Novo Norte), Quadro de Referencia Estrategico Nacional (QREN) and Fundo Europeu de Desenvolvimento Regional (FEDER). M.V.-P. is the recipient of an FCT Post-Doctorate Research Fellowship (SFRH/BPD/104290/2014).info:eu-repo/semantics/publishedVersionKarger PublishersUniversidade do MinhoPereira, Marta Sofia Carvalho Ribeiro VianaAlmeida, Gisele CaravinaStavale, João NorbertoMalheiro, SusanaClara, CarlosLobo, PatríciaPimentel, JoséReis, R. M.2017-02-252017-02-25T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/1822/50082engViana-Pereira, M., Almeida, G. C., Stavale, J. N., Malheiro, S., Clara, C., Lobo, P., ... & Reis, R. M. (2017). Study of hTERT and histone 3 mutations in medulloblastoma. Pathobiology, 84(2), 108-1131015-200810.1159/00044892227694758https://www.karger.com/Article/Abstract/448922info: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:RCAAP2023-07-21T12:37:21Zoai:repositorium.sdum.uminho.pt:1822/50082Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T19:33:39.135654Repositório 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 Study of hTERT and Histone 3 Mutations in Medulloblastoma
title Study of hTERT and Histone 3 Mutations in Medulloblastoma
spellingShingle Study of hTERT and Histone 3 Mutations in Medulloblastoma
Pereira, Marta Sofia Carvalho Ribeiro Viana
hTERT
Mutations
Medulloblastoma
Biomarkers
Ciências Médicas::Medicina Básica
Science & Technology
title_short Study of hTERT and Histone 3 Mutations in Medulloblastoma
title_full Study of hTERT and Histone 3 Mutations in Medulloblastoma
title_fullStr Study of hTERT and Histone 3 Mutations in Medulloblastoma
title_full_unstemmed Study of hTERT and Histone 3 Mutations in Medulloblastoma
title_sort Study of hTERT and Histone 3 Mutations in Medulloblastoma
author Pereira, Marta Sofia Carvalho Ribeiro Viana
author_facet Pereira, Marta Sofia Carvalho Ribeiro Viana
Almeida, Gisele Caravina
Stavale, João Norberto
Malheiro, Susana
Clara, Carlos
Lobo, Patrícia
Pimentel, José
Reis, R. M.
author_role author
author2 Almeida, Gisele Caravina
Stavale, João Norberto
Malheiro, Susana
Clara, Carlos
Lobo, Patrícia
Pimentel, José
Reis, R. M.
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade do Minho
dc.contributor.author.fl_str_mv Pereira, Marta Sofia Carvalho Ribeiro Viana
Almeida, Gisele Caravina
Stavale, João Norberto
Malheiro, Susana
Clara, Carlos
Lobo, Patrícia
Pimentel, José
Reis, R. M.
dc.subject.por.fl_str_mv hTERT
Mutations
Medulloblastoma
Biomarkers
Ciências Médicas::Medicina Básica
Science & Technology
topic hTERT
Mutations
Medulloblastoma
Biomarkers
Ciências Médicas::Medicina Básica
Science & Technology
description CNPq/Universal (475358/2011-2), Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP; 2012/19590-0) and Fundação para a Ciência e Tecnologia (FCT; PTDC/SAU-ONC/115513/2009) grants to R.M.R. The project was cofinanced by Programa Operacional Regional do Norte (ON.2-O Novo Norte), Quadro de Referência Estratégico Nacional (QREN) and Fundo Europeu de Desenvol- vimento Regional (FEDER). M.V.-P. is the recipient of an FCT Post-Doctorate Research Fellowship (SFRH/BPD/104290/2014)
publishDate 2017
dc.date.none.fl_str_mv 2017-02-25
2017-02-25T00:00:00Z
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/1822/50082
url http://hdl.handle.net/1822/50082
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Viana-Pereira, M., Almeida, G. C., Stavale, J. N., Malheiro, S., Clara, C., Lobo, P., ... & Reis, R. M. (2017). Study of hTERT and histone 3 mutations in medulloblastoma. Pathobiology, 84(2), 108-113
1015-2008
10.1159/000448922
27694758
https://www.karger.com/Article/Abstract/448922
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 Karger Publishers
publisher.none.fl_str_mv Karger Publishers
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
repository.mail.fl_str_mv
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