Acquired TERT promoter mutations stimulate TERT transcription in mantle cell lymphoma

Julieta Panero, Raquel M. Alves-Paiva, Alejandro Roisman, Barbara A. Santana-Lemos, Roberto P. Falcão, Gustavo Oliveira, Diego Martins, Carmen Stanganelli, Irma Slavutsky, Rodrigo T. Calado

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


Mantle cell lymphoma (MCL) is an aggressive lymphoid neoplasm with poor prognosis. Acquired telomerase reverse transcriptase gene promoter (TERTp) mutations are among the most frequent somatic non-coding mutations in cancers. In this study, the prevalence of TERTp mutations in 24 MCL and 21 other lymphoid neoplasias (oLN) was investigated. Eight MCL samples (33%) carried TERTp mutations, two homozygous and six 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 were not found in oLN. TERTp mutations correlated with more lymphoma proliferation and tumor burden, as suggested by the higher number of lymphoma cells circulating in peripheral blood, and tended to associate with 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 were not influenced by mutation status. The findings described for the first time that acquired TERTp mutations are common in MCL but not in other lymphoid neoplasms. It was also demonstrated that TERTp mutations are associated with higher TERT mRNA expression in MCL cells in vivo and higher tumor burden, suggesting these mutations as a driver event in MCL development and progression.

Original languageEnglish (US)
Pages (from-to)481-485
Number of pages5
JournalAmerican Journal of Hematology
Issue number5
StatePublished - May 1 2016
Externally publishedYes

ASJC Scopus subject areas

  • Hematology


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