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Ofner, R; Ritter, C; Heidenreich, B; Kumar, R; Ugurel, S; Schrama, D; Becker, JC.
Distribution of TERT promoter mutations in primary and metastatic melanomas in Austrian patients.
J Cancer Res Clin Oncol. 2017; 143(4):613-617 [OPEN ACCESS]
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Autor/innen der Med Uni Graz:
Becker Jürgen Christian
Ofner Richard
Ritter Cathrin
Schrama David
Ugurel-Becker Selma

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TERT promoter mutations were detected at high frequencies in several cancer types including melanoma. Previous reports showed that these recurrent mutations increase TERT gene expression and the use of TERT mutation status as prognostic factor was suggested. Here we screen a panel of 115 melanoma tumor samples from Austrian patients to evaluate the prevalence and distribution of TERT promoter mutations. The association with clinical and tumor characteristics and the effect on overall survival was analyzed. Genomic DNA from formalin-fixed paraffin-embedded tumor samples was isolated followed by PCR amplification, Sanger sequencing and statistical analysis. We identified TERT promoter mutations in 63 of 115 (54.8%) tumor samples. No statistical significant difference in mutation frequency between primary (22/40 [55%]) and metastatic lesions (41/75 [54.7%]) was detected. BRAF-/NRAS-mutated tumors showed a higher frequency of TERT mutations (pT OR 2.24, 95% CI 0.56-9.02, p = 0.3) (met OR 2.74, 95% CI 0.98-7.66, p = 0.05). In primary melanoma, the presence of alterations in TERT was associated with the carrier status of a common single-nucleotide polymorphism rs2853669 (OR 4.55, CI 1.18-17.52, p = 0.03). In this patient cohort, TERT promoter mutations were not associated with clinical characteristics such as the presence of ulceration or Breslow thickness or showed an effect on overall survival. Alterations in the TERT promoter region are one of the most frequent mutations in melanoma. Based on this analysis and preliminary evidence, prospective studies will be needed to evaluate the reliability of TERT promoter mutations as prognostic factors in melanoma.
Find related publications in this database (using NLM MeSH Indexing)
Austria -
Female -
Humans -
Male -
Melanoma - genetics
Melanoma - pathology
Middle Aged -
Neoplasm Metastasis - genetics
Promoter Regions, Genetic -
Telomerase - genetics

Find related publications in this database (Keywords)
TERT promotor mutation
Primary tumor
Metastatic lesion
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