Study of hTERT and Histone 3 Mutations in Medulloblastoma
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , , , , , , |
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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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 |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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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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1799132855222140928 |