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Artículo

Acquired TERT promoter mutations activate TERT expression in mantle cell lymphoma

Panero, JulietaIcon ; Alves Paiva, Raquel; Roisman, AlejandroIcon ; Santana Lemos, Barbara; Falcao, Roberto P.; Oliveira, Gustavo; Martins, Diego; Stanganelli, Carmen Graciela; Slavutsky, Irma RosaIcon ; Calado, Rodrigo
Fecha de publicación: 02/2016
Editorial: John Willey & Sons
Revista: American Journal Of Hematology
ISSN: 0361-8609
e-ISSN: 1096-8652
Idioma: Inglés
Tipo de recurso: Artículo publicado
Clasificación temática:
Otras Ciencias Biológicas; Patología

Resumen

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.
Palabras clave: Htert , Mantle Cell Lymphoma , Shelterin , Dna , Leukemia , Limphoma
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info:eu-repo/semantics/openAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)
Identificadores
URI: http://hdl.handle.net/11336/45317
URL: https://onlinelibrary.wiley.com/doi/abs/10.1002/ajh.24324
DOI: http://dx.doi.org/10.1002/ajh.24324
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Articulos(IMEX)
Articulos de INST.DE MEDICINA EXPERIMENTAL
Citación
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
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