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TERT promoter mutations are associated with poor prognosis in cutaneous squamous cell carcinoma - 11/02/19

Doi : 10.1016/j.jaad.2018.08.032 
Manuel António Campos, MD a, b, c, d, Sofia Macedo, MSc a, b, Margarida Fernandes, MD e, Ana Pestana, MSc a, b, c, Joana Pardal, MD e, Rui Batista, MSc a, b, c, João Vinagre, PhD a, b, c, Agostinho Sanches, MD f, Armando Baptista, MD d, José Manuel Lopes, MD, PhD, IFCAP a, b, c, e, Paula Soares, PhD a, b, c,
a Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal 
b Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal 
c Medical Faculty, University of Porto, Porto, Portugal 
d Dermatology Department, Centro Hospitalar Vila Nova de Gaia, Vila Nova de Gaia, Portugal 
f Department of Pathology, Centro Hospitalar Vila Nova de Gaia, Vila Nova de Gaia, Portugal 
e Department of Pathology, Centro Hospitalar São João, São João, Portugal 

Reprint requests: Paula Soares, PhD, IPATIMUP, Rua Roberto Frias s/n, 4200-465, Porto, Portugal.IPATIMUPRua Roberto Frias s/nPorto4200-465Portugal

Abstract

Background

Telomerase reverse transcriptase gene (TERT) promoter (TERTp) mutations have been reported as potential predictors of poor prognosis in several cancers, but the prognostic value of TERTp mutations for cutaneous squamous cell carcinoma (cSCC) has not been determined.

Objective

To evaluate the frequency of TERTp mutations and correlate it with clinicopathologic features and patient outcome.

Methods

We performed genetic profiling of TERTp mutations in a retrospective series of cSCCs. The predictive value of TERTp mutations and clinicopathologic parameters were assessed by using logistic regression models.

Results

A total of 152 cSCCs from 122 patients were analyzed for TERTp mutations; the mutation rate was 31.6% (48 of 152), and it was higher in invasive cSCC (42 of 121 [34.7%]) than in in situ cSCC (6 of 31 [19.4%]). Age older than 75 years (odds ratio [OR], 14.84; P = .013] and TERTp mutation (OR, 8.11; P = .002) were independent predictors of local recurrence. TERTp mutation (OR, 15.89; P = .022) was independently associated with higher risk of lymph node metastasis.

Limitations

The restricted number of metastatic cases.

Conclusion

TERTp mutations may prove to be a molecular biomarker with prognostic significance in invasive cSCC, but larger studies are needed.

Le texte complet de cet article est disponible en PDF.

Key words : biomarker, cutaneous squamous cell carcinoma, metastases, outcome, prognosis, prognostic biomarker, recurrence, squamous cell carcinoma, TERT, TERT promoter mutation

Abbreviations used : cSCC, OR, TERTp


Plan


 Dr Lopes and Dr Soares contributed equally to this article.
 Funding sources: Supported by the Operational Program for Competitiveness and Internationalization (POCI), Portugal 2020; by Portuguese funds through the Fundação para a Ciência e a Tecnologia/ Ministério da Ciência, Tecnologia e Inovação within the framework of the project Institute for Research and Innovation in Health Sciences (POCI-01-0145-FEDER-007274); and by the project Advancing Cancer Research: From Basic Knowledge to Application; NORTE-01-0145-FEDER-000029; Projetos Estruturados de I&D&I, which is funded by Norte 2020-Programa Operacional Regional do Norte. Further support was provided by the European Regional Development Fund through the Operational Programme for Competitiveness and Internationalization COMPETE 2020 and Portuguese national funds via the Fundação para a Ciência e a Tecnologia, under the project POCI-01-0145-FEDER-016390: CANCEL STEM, and by the Portuguese Society of Dermatology and Venereology through a grant titled Bolsa Juvenal Esteves 2016/Bolsa de Investigação LEO to Dr Campos.
 Conflicts of interest: None disclosed.


© 2018  American Academy of Dermatology, Inc.. Publié par Elsevier Masson SAS. Tous droits réservés.
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Vol 80 - N° 3

P. 660 - mars 2019 Retour au numéro
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