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Title: TERT Promoter Mutations are Associated with Visceral Spreading in Melanoma of the Trunk
Author: Osella Abate, Simone
Bertero, Luca
Senetta, Rebecca
Mariani, Sara
Lisa, Francesco
Coppola, Vittoria
Metovic, Jasna
Pasini, Barbara
Puig i Sardà, Susana
Fierro, Maria Teresa
Manrique Silva, Esperanza
Kumar, Rajiv
Nagore, Eduardo
Cassoni, Paola
Ribero, Simone
Keywords: Melanoma
Mutació (Biologia)
Mutation (Biology)
Issue Date: 30-Mar-2019
Publisher: MDPI
Abstract: Survival predictions are currently determined on the basis of NRAS/BRAF mutations, even though TERT promoter mutations have been recently associated with a poor prognosis in stage I-II melanomas. Usually, it is not recommended to perform a mutational test on primary melanoma, as the results do not always reflect the mutational status of metastases. In particular, trunk melanomas have been reported to have an unfavourable prognosis. A series of 105 advanced melanoma patients were analysed by TERT promoter Sanger sequencing. Univariate/multivariate binary logistic regression models were performed using progression to a visceral site as the dependent variable and patient/tumour characteristics as covariates. Performance of the model was assessed in an external independent primary melanoma patients' dataset. Male gender (odds ratio (OR), 344; 95% CI, 1.12⁻10.6; p = 0.031), AJCC (American Joint Committee on Cancer) classification (OR, 022; 95% CI, 0.07⁻0.67; p = 0.008), SLNB (Sentinel Lymph Node Biopsy) status (OR, 3.05; 95% CI, 1.06⁻8.78; p = 0.039) and TERT-mutated trunk lesions (OR, 3.78; 95% CI, 1.35⁻10.6; p = 0.011) were significantly associated with the risk of developing a visceral spreading as first site of progression using multivariate logistic regression analysis. These results were confirmed in the external validation control group. Therefore, in trunk primary melanomas, due to their high risk of progression to visceral sites, we encourage somatic TERT mutation analysis at diagnosis to identify those patients who would potentially benefit from a more intensive follow-up protocol and a prompt initiation of therapy.
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It is part of: Cancers, 2019, vol. 11, num. 4, p. 452
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ISSN: 2072-6694
Appears in Collections:Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)
Articles publicats en revistes (Medicina)

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