biostudies-literatureUnknown118(1)Hugdahl EBACKGROUND:TERT promoter mutations are frequent in melanoma. Here we analysed the concordance and prognostic impact of TERT mutation and telomerase reverse transcriptase (TERT) protein expression in a large melanoma series. METHODS:In 194 primary nodular melanomas with 72 matched loco-regional metastases, TERT promoter mutation status was assessed by Sanger sequencing and TERT protein expression by immunohistochemistry. RESULTS:TERT mutations were found in 68% of primary melanomas and 64% of metastases, and the mutation status was discordant between primary tumour and metastasis in 24% of the cases. 6 of the 10 cases with discordant and wild-type metastases were also TERT wild type when re-tested in other intra-tumour regions, whereas 4 cases were mutation positive. TERT-mutated tumours teBritish journal of cancer98-105https://www.ebi.ac.uk/biostudies/studies/S-EPMC5765228biostudies-literaturePrognostic impact and concordance of TERT promoter mutation and protein expression in matched primary and metastatic cutaneous melanoma.PMC5765228Kalvenes MBMannelqvist MHugdahl ELadstein RGAkslen LAfalsePrognostic impact and concordance of TERT promoter mutation and protein expression in matched primary and metastatic cutaneous melanoma.BACKGROUND:TERT promoter mutations are frequent in melanoma. Here we analysed the concordance and prognostic impact of TERT mutation and telomerase reverse transcriptase (TERT) protein expression in a large melanoma series. METHODS:In 194 primary nodular melanomas with 72 matched loco-regional metastases, TERT promoter mutation status was assessed by Sanger sequencing and TERT protein expression by immunohistochemistry. RESULTS:TERT mutations were found in 68% of primary melanomas and 64% of metastases, and the mutation status was discordant between primary tumour and metastasis in 24% of the cases. 6 of the 10 cases with discordant and wild-type metastases were also TERT wild type when re-tested in other intra-tumour regions, whereas 4 cases were mutation positive. TERT-mutated tumours te2018-01-01T00:00:00Z2018 Jan2025-04-04T11:29:49.734Z2019-03-26T22:26:48ZS-EPMC57652282912325810.1038/bjc.2017.384