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dc.contributor.author
Panero, Julieta
dc.contributor.author
Alves Paiva, Raquel
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Roisman, Alejandro
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Santana Lemos, Barbara
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Falcao, Roberto P.
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Oliveira, Gustavo
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Martins, Diego
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Stanganelli, Carmen Graciela
dc.contributor.author
Slavutsky, Irma Rosa
dc.contributor.author
Calado, Rodrigo
dc.date.available
2018-05-16T02:23:19Z
dc.date.issued
2016-02
dc.identifier.citation
Panero, Julieta; Alves Paiva, Raquel; Roisman, Alejandro; Santana Lemos, Barbara; Falcao, Roberto P.; et al.; Acquired TERT promoter mutations activate TERT expression in mantle cell lymphoma; John Willey & Sons; American Journal Of Hematology; 91; 5; 2-2016; 481-485
dc.identifier.issn
0361-8609
dc.identifier.uri
http://hdl.handle.net/11336/45317
dc.description.abstract
Mantle cell lymphoma (MCL) is an aggressive lymphoid neoplasm with poor prognosis. Acquired telomerasereverse transcriptase gene promoter (TERTp) mutations are among the most frequent somatic non-codingmutations in cancers. In this study, the prevalence of TERTp mutations in 24 MCL and 21 other lymphoidneoplasias (oLN) was investigated. Eight MCL samples (33%) carried TERTp mutations, two homozygous andsix heterozygous (seven C228T and one C250T), which directly correlated with higher TERT transcription,mitochondrial DNA copy number, and IGHV mutational status in MCL neoplastic cells. TERTp mutations werenot found in oLN. TERTp mutations correlated with more lymphoma proliferation and tumor burden, assuggested by the higher number of lymphoma cells circulating in peripheral blood, and tended to associatewith longer MCL telomeres, especially in homozygous mutants, although not statistically significant.Telomere-biology genes were overexpressed in MCL cells in comparison to healthy lymphocytes, but werenot influenced by mutation status. The findings described for the first time that acquired TERTp mutationsare common in MCL but not in other lymphoid neoplasms. It was also demonstrated that TERTp mutationsassociated with higher TERT mRNA expression in MCL cells in vivo and higher tumor burden, suggestingthese mutations as a driver event in MCL development and progression.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
John Willey & Sons
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Htert
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Mantle Cell Lymphoma
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Shelterin
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Dna
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Leukemia
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Limphoma
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Otras Ciencias Biológicas
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Ciencias Biológicas
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CIENCIAS NATURALES Y EXACTAS
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Patología
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Medicina Básica
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Acquired TERT promoter mutations activate TERT expression in mantle cell lymphoma
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2018-05-03T14:00:10Z
dc.identifier.eissn
1096-8652
dc.journal.volume
91
dc.journal.number
5
dc.journal.pagination
481-485
dc.journal.pais
Estados Unidos
dc.journal.ciudad
Nueva York
dc.description.fil
Fil: Panero, Julieta. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
dc.description.fil
Fil: Alves Paiva, Raquel. Universidade de Sao Paulo; Brasil. Fundação de Amparo À Pesquisa do Estado de São Paulo; Brasil
dc.description.fil
Fil: Roisman, Alejandro. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
dc.description.fil
Fil: Santana Lemos, Barbara. Universidade de Sao Paulo; Brasil. Fundação de Amparo À Pesquisa do Estado de São Paulo; Brasil
dc.description.fil
Fil: Falcao, Roberto P.. Universidade de Sao Paulo; Brasil. Fundação de Amparo À Pesquisa do Estado de São Paulo; Brasil
dc.description.fil
Fil: Oliveira, Gustavo. Universidade de Sao Paulo; Brasil
dc.description.fil
Fil: Martins, Diego. Universidade de Sao Paulo; Brasil
dc.description.fil
Fil: Stanganelli, Carmen Graciela. Academia Nacional de Medicina de Buenos Aires; Argentina
dc.description.fil
Fil: Slavutsky, Irma Rosa. Imex, Conicet-academia Nacional de Medicina; Argentina
dc.description.fil
Fil: Calado, Rodrigo. Fundação de Amparo À Pesquisa do Estado de São Paulo; Brasil. Universidade de Sao Paulo; Brasil
dc.journal.title
American Journal Of Hematology
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/ajh.24324
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1002/ajh.24324
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/pmid/26852175
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