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Journal of Investigative DermatologyVolume 134, Issue 8, August 2014, Pages 2251-2257

TERT promoter mutations in skin cancer: The effects of sun exposure and X-irradiation(Article)(Open Access)

  • Pópulo, H.,
  • Boaventura, P.,
  • Vinagre, J.,
  • Batista, R.,
  • Mendes, A.,
  • Caldas, R.,
  • Pardal, J.,
  • Azevedo, F.,
  • Honavar, M.,
  • Guimarães, I.,
  • Manuel Lopes, J.,
  • Sobrinho-Simões, M.,
  • Soares, P.
  • View Correspondence (jump link)
  • aDepartment of Cancer Biology, Institute of Molecular Pathology and Immunology, University of Porto (IPATIMUP), Rua Dr Roberto Frias s/n, 4200-465 Porto, Portugal
  • bInstitute of Biomedical Sciences Abel Salazar, University of Porto, Porto, Portugal
  • cDepartment of Pathology and Oncology, Medical Faculty, University of Porto, Porto, Portugal
  • dDepartment of Pathology, Hospital S. João, Porto, Portugal
  • eDepartment of Dermatology, Hospital São João, Porto, Portugal
  • fDepartment of Pathology, Hospital Pedro Hispano, Senhora da Hora, Portugal
  • gDepartment of Plastic Surgery, Hospital Pedro Hispano, Senhora da Hora, Portugal

Abstract

The reactivation or reexpression of telomerase (TERT) is a widespread feature of neoplasms. TERT promoter mutations were recently reported that were hypothesized to result from UV radiation. In this retrospective study, we assessed TERT promoter mutations in 196 cutaneous basal cell carcinomas (BCCs), including 102 tumors from X-irradiated patients, 94 tumors from patients never exposed to ionizing radiation treatment, and 116 melanomas. We sought to evaluate the effects of UV and X-ray irradiation on TERT mutation frequency. TERT mutations were detected in 27% of BCCs from X-irradiated patients, 51% of BCCs from nonirradiated patients, and 22% of melanoma patients. TERT mutations were significantly increased in non-X-irradiated BCC patients compared with X-irradiated BCC patients; the mutations also presented a different mutation signature. In nonirradiated patients, TERT mutations were more frequent in BCCs of sun-exposed skin, supporting a possible causative role of UV radiation. In melanoma, TERT promoter mutations were generally restricted to intermittent sun-exposed areas and were associated with nodular and superficial spreading subtypes, increased thickness, ulceration, increased mitotic rate, and BRAFV600E mutations. Our results suggest that various carcinogenic factors may cause distinct TERT promoter mutations in BCC and that TERT promoter mutations might be associated with a poorer prognosis in melanoma. © 2014 The Society for Investigative Darmatology.

Indexed keywords

EMTREE drug terms:telomerase
EMTREE medical terms:adultarticlebasal cell carcinomacancer diagnosiscancer prognosiscancer radiotherapycancer survivalcontrolled studycutaneous melanomadisease free survivalfemalegene mutationhumanmajor clinical studymalemitosis ratemutation rateoverall survivalpriority journalretrospective studysun exposureultraviolet radiationX irradiation
MeSH:Carcinoma, Basal CellHumansMelanomaMutationPromoter Regions, GeneticProportional Hazards ModelsSkin NeoplasmsSunlightTelomeraseX-Rays

Funding details

Funding sponsor Funding number Acronym
Ministry of Science, Technology and Space
European Regional Development Fund
SFRH/BD/81940/2011,SFRH/BPD/85249/2012,SFRH/BPD/34276/2007
Fundação para a Ciência e a Tecnologia
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  • 1

    We are grateful to all of the patients who participated in this study, as well as the physicians who provided clinical, pathological, and follow-up information. We also thank Pedro Oliveira for the advice in the statistical analysis performed in the manuscript. This study was supported by the Portuguese Foundation for Science and Technology through Post-Doc grants to HP and PB (Ref.: SFRH/BPD/85249/2012, and SFRH/BPD/34276/2007, respectively) and a PhD grant to JV (Ref: SFRH/BD/81940/2011). Further funding was obtained from the project “Microenvironment, metabolism and cancer” that was partially supported by Programa Operacional Regional do Norte (ON.2—O Novo Norte) under the Quadro de Referência Estratégico Nacional (QREN) and the Fundo Europeu de Desenvolvimento Regional (FEDER). IPATIMUP is an Associate Laboratory of the Portuguese Ministry of Science, Technology and Higher Education that is partially supported by the FCT.

  • ISSN: 0022202X
  • CODEN: JIDEA
  • Source Type: Journal
  • Original language: English
  • DOI: 10.1038/jid.2014.163
  • PubMed ID: 24691053
  • Document Type: Article
  • Publisher: Nature Publishing Group

  Soares, P.; Department of Cancer Biology, Institute of Molecular Pathology and Immunology, University of Porto (IPATIMUP), Rua Dr Roberto Frias s/n, Portugal;
© Copyright 2018 Elsevier B.V., All rights reserved.

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