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 binarylogisticregressionmodelswereperformedusingprogressiontoavisceralsiteasthedependent 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 usingmultivariatelogisticregressionanalysis. Theseresultswereconfirmedintheexternalvalidation controlgroup. Therefore,intrunkprimarymelanomas,duetotheirhighriskofprogressiontovisceral sites, we encourage somatic TERT mutation analysis at diagnosis to identify those patients who wouldpotentiallybenefitfromamoreintensivefollow-upprotocolandapromptinitiationoftherapy.

TERT Promoter Mutations are Associated with Visceral Spreading in Melanoma of the Trunk

Simona Osella-Abate
Co-first
;
Luca Bertero
Co-first
;
Rebecca Senetta;Sara Mariani;Francesco Lisa;Vittoria Coppola;Jasna Metovic;Barbara Pasini;Maria Teresa Fierro;Paola Cassoni
;
Simone Ribero.
Last
2019-01-01

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 binarylogisticregressionmodelswereperformedusingprogressiontoavisceralsiteasthedependent 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 usingmultivariatelogisticregressionanalysis. Theseresultswereconfirmedintheexternalvalidation controlgroup. Therefore,intrunkprimarymelanomas,duetotheirhighriskofprogressiontovisceral sites, we encourage somatic TERT mutation analysis at diagnosis to identify those patients who wouldpotentiallybenefitfromamoreintensivefollow-upprotocolandapromptinitiationoftherapy.
2019
11
4
452
465
TERT promoter; trunk; melanoma; visceral metastases
Simona Osella-Abate, Luca Bertero, Rebecca Senetta, Sara Mariani, Francesco Lisa, Vittoria Coppola, Jasna Metovic, Barbara Pasini, Susana Puig, Maria Teresa Fierro, Esperanza Manrique-Silva, Rajiv Kumar, Eduardo Nagore, Paola Cassoni, Simone Ribero.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1695898
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