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International Journal of CancerVolume 139, Issue 2, 15 July 2016, Pages 414-423

The prognostic impact of TERT promoter mutations in glioblastomas is modified by the rs2853669 single nucleotide polymorphism(Article)

  • Batista, R.,
  • Cruvinel-Carloni, A.,
  • Vinagre, J.,
  • Peixoto, J.,
  • Catarino, T.A.,
  • Campanella, N.C.,
  • Menezes, W.,
  • Becker, A.P.,
  • De Almeida, G.C.,
  • Matsushita, M.M.,
  • Clara, C.,
  • Neder, L.,
  • Viana-Pereira, M.,
  • Honavar, M.,
  • Castro, L.,
  • Lopes, J.M.,
  • Carvalho, B.,
  • Vaz, R.M.,
  • Máximo, V.,
  • Soares, P.,
  • Sobrinho-Simões, M.,
  • Reis, R.M.,
  • Lima, J.
  • View Correspondence (jump link)
  • aCancer Signaling and Metabolism Group, Instituto de Investigação e Inovação em Saúde, Universidade Do Porto, Portugal
  • bCancer Signaling and Metabolism Group, Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Rua Dr. Roberto Frias s/n, Porto Portugal, 4200-465, Portugal
  • cMolecular Oncology Research Center, Barretos Cancer Hospital, São Paulo, Brazil
  • dInstitute of Biomedical Sciences of Abel Salazar, University of Porto, Portugal
  • eRibeirão Preto School of Medicine, University of São Paulo, Brazil
  • fDepartment of Pathology, Barretos Cancer Hospital, São Paulo, Brazil
  • gDepartment of Neurosurgery, Barretos Cancer Hospital, São Paulo, Brazil
  • hLife and Health Sciences Research Institute (ICVS), Health Sciences School, University of Minho, Braga, Portugal
  • iICVS/3B's-PT Government Laboratory, Braga/Guimarães, Portugal
  • jDepartment of Pathology, Hospital Pedro Hispano, Matosinhos, Portugal
  • kDepartment of Pathology, Centro Hospitalar de S. João, Porto, Portugal
  • lDepartment of Neurosurgery, Centro Hospitalar de S. João, Porto, Portugal
  • mMedical Faculty of the University of Porto, Portugal
  • nNeurosciences Department, CUF Hospital, Porto, Portugal

Abstract

Human hotspot TERT promoter (TERTp) mutations have been reported in a wide range of tumours. Several studies have shown that TERTp mutations are associated with clinicopathological features; in some instances, TERTp mutations were considered as biomarkers of poor prognosis. The rs2853669 SNP, located in the TERT promoter region, was reported to modulate the increased TERT expression levels induced by the recurrent somatic mutations. In this study we aimed to determine the frequency and prognostic value of TERTp mutations and TERT rs2853669 SNP in 504 gliomas from Portuguese and Brazilian patients. TERTp mutations were detected in 47.8% of gliomas (216/452). Glioblastomas (GBM) exhibited the highest frequency of TERTp mutations (66.9%); in this glioma subtype, we found a significant association between TERTp mutations and poor prognosis, regardless of the population. Moreover, in a multivariate analysis, TERTp mutations were the only independent prognostic factor. Our data also showed that the poor prognosis conferred by TERTp mutations was restricted to GBM patients carrying the rs2853669 A allele and not in those carrying the G allele. In conclusion, the presence of TERTp mutations was associated with worse prognosis in GBM patients, although such association depended on the status of the rs2853669 SNP. The status of the rs2853669 SNP should be taken in consideration when assessing the prognostic value of TERTp mutations in GBM patients. TERTp mutations and the rs2853669 SNP can be used in the future as biomarkers of glioma prognosis. © 2016 UICC.

Author keywords

glioblastomaprognosissurvivalTERT promoter mutationsTERT SNP

Indexed keywords

EMTREE drug terms:telomerase reverse transcriptasetelomeraseTERT protein, human
EMTREE medical terms:adolescentadultageagedArticleastrocytomaBraziliancancer prognosischildfemalegene mutationglioblastomagliomahumanhuman tissueKarnofsky Performance Statusmajor clinical studymaleoligodendrogliomaoverall survivalPortuguese (citizen)priority journalpromoter regionsingle nucleotide polymorphismtemporal lobeTERT genealleleBrain NeoplasmsgeneticsgenotypeglioblastomainfantKaplan Meier methodmiddle agedmortalitymutationpathologypreschool childprognosispromoter regionyoung adult
MeSH:AdolescentAdultAgedAllelesBrain NeoplasmsChildChild, PreschoolFemaleGenotypeGlioblastomaHumansInfantKaplan-Meier EstimateMaleMiddle AgedMutationPolymorphism, Single NucleotidePrognosisPromoter Regions, GeneticTelomeraseYoung Adult

Chemicals and CAS Registry Numbers:

telomerase reverse transcriptase, 120178-12-3;

Telomerase; TERT protein, human

Funding details

Funding sponsor Funding number Acronym
Fundação de Amparo à Pesquisa do Estado de São Paulo
See opportunities
Fundo para o Desenvolvimento das Ciências e da Tecnologia
Programa Operacional Temático Factores de CompetitividadePTDC/SAU-ONC/115513/2009
SFRH/BD/81940/2011,NORTE-01-0145-FEDER-000029,NORTE2020,2013/25787-3

  • 1

    Portuguese Fundac?opara a C?encia e Tecnologia and Fundo Europeu de Desenvolvimento Regional (FEDER) and COMPETE Programa Operacional Factores de Competitividade (POFC); Grant number: PTDC/SAU-ONC/115513/2009; Grant sponsor: Brazilian FAPESP; Grant number: 2012/195900; Grant sponsor: Programa Operacional Regional do Norte (ON.2 O Novo Norte), under Quadro de Referencia Estrategico Nacional (QREN) through Fundo Europeu de Desenvolvimento Regional (FEDER); Grant number: Microenvironment, Metabolism and Cancer; Grant sponsor: Fundac?o para a C?encia e Tecnologia; Grant number: SFRH/BD/81940/2011;Grant sponsor: Fundac??o para a C?encia e Tecnologia; Grant number: Program C?encia 2007; Grant sponsor: Fundac?o para a C?encia e Tecnologia; Grant number: Program C?encia 2008; Grant sponsor: Brazilian FAPESP; Grant number: 2013/25787-3; Grant sponsor: NORTE2020; Grant number: NORTE-01-0145-FEDER-000029

  • ISSN: 00207136
  • CODEN: IJCNA
  • Source Type: Journal
  • Original language: English
  • DOI: 10.1002/ijc.30057
  • PubMed ID: 26914704
  • Document Type: Article
  • Publisher: Wiley-Liss Inc.

  Lima, J.; Cancer Signaling and Metabolism Group, Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Rua Dr. Roberto Frias s/n, Porto Portugal, Portugal;
© Copyright 2017 Elsevier B.V., All rights reserved.

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Spiegl-Kreinecker, S. , Lötsch, D. , Neumayer, K.
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(2018) Neuro-Oncology
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