pTERT C250T mutation: A potential biomarker of poor prognosis in metastatic melanoma.

Autor:	Blanco-García L; Research Institute 12 de Octubre Hospital, Madrid, Spain., Ruano Y; Research Institute 12 de Octubre Hospital, Madrid, Spain., Blanco Martínez-Illescas R; Research Institute 12 de Octubre Hospital, Madrid, Spain.; Biosanitary Research Institute, Faculty of Experimental Sciences, Francisco de Vitoria University, Pozuelo de Alarcón, Madrid, Spain., Cubo R; Research Institute 12 de Octubre Hospital, Madrid, Spain., Jiménez Sánchez P; Research Institute 12 de Octubre Hospital, Madrid, Spain.; Biosanitary Research Institute, Faculty of Experimental Sciences, Francisco de Vitoria University, Pozuelo de Alarcón, Madrid, Spain., Sánchez-Arévalo Lobo VJ; Research Institute 12 de Octubre Hospital, Madrid, Spain.; Biosanitary Research Institute, Faculty of Experimental Sciences, Francisco de Vitoria University, Pozuelo de Alarcón, Madrid, Spain., Riveiro Falkenbach E; Research Institute 12 de Octubre Hospital, Madrid, Spain., Ortiz Romero P; Department of Dermatology, 12 de Octubre University Hospital, Madrid, Spain., Garrido MC; Department of Pathology, 12 de Octubre University Hospital, Madrid, Spain.; Complutense University of Madrid; Madrid, Spain., Rodríguez Peralto JL; Department of Pathology, 12 de Octubre University Hospital, Madrid, Spain.; Complutense University of Madrid; Madrid, Spain.
Jazyk:	angličtina
Zdroj:	Heliyon [Heliyon] 2023 Aug 06; Vol. 9 (8), pp. e18953. Date of Electronic Publication: 2023 Aug 06 (Print Publication: 2023).
DOI:	10.1016/j.heliyon.2023.e18953
Abstrakt:	Melanoma is the most aggressive form of skin cancer and the leading cause of death from cutaneous tumors. Several studies have associated alterations in the TERT promoter region ( pTERT ) with gene overexpression, aggressiveness and poor prognosis of the disease. The aim of this study was to clarify the role of pTERT molecular status in paired samples of primary melanoma and metastasis using tissue and plasma to establish a correlation with disease progression and survival. A total of 88 FFPE tissue samples from 53 patients with advanced melanoma were analyzed. Of these, 35 had paired samples. We also examined cfDNA samples from plasma of 25 patients. We detected a good correlation between primary tumors and metastases in pTERT mutation and methylation status. We were also able to identify pTERT mutations in plasma samples that correlated with mutational status in tissue samples. Interestingly, the C250T mutation was associated with worse survival and higher TERT mRNA expression, compared to the other most common mutation: C228T. In addition, hyper-methylation of the promoter region seems to be related to the progression of pTERT wild type (WT) patients. These results suggest that TERT gene alterations plays an important role during tumor progression, with the detection of the C250T mutation in tissue and plasma as a potential biomarker of poor prognosis in patients with advanced melanoma. Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (© 2023 The Authors. Published by Elsevier Ltd.)
Databáze:	MEDLINE
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