Telomerase reverse transcriptase (TERT) promoter mutations in Korean melanoma patients

Mi Ryung Roh, Kyu Hyun Park, Kee Yang Chung, Sang Joon Shin, Sun Young Rha, Hensin Tsao

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23 Citations (Scopus)


Telomerase reverse transcriptase (TERT) is the reverse transcriptase component of the telomeric complex, which synthesizes terminal DNA to protect chromosomal ends and to maintain genomic integrity. In melanoma, mutation in TERT promoter region is a common event and theses promoter variants have been shown to be associated with increased gene expression, decreased telomere length and poorer outcome. In this study, we determined the frequency of TERT promoter mutation in 88 Korean primary melanoma patients and aimed to see the association of TERT promoter mutation status to other major molecular features, such as BRAF, NRAS, KIT mutations and correlate with clinicopathological features. In our study, acral melanoma (n=46, 52.3%) was the most common type. Overall, TERT promoter mutation was observed in 15 cases (17%) with ten c. -124C > T altertions and five c. -146C > T alterations. None of our samples showed CC > TT mutation which is considered pathognomonic of UV induction. Among the 46 acral melanoma patients, 5 patients (10.9%) harbored TERT promoter mutation. Tumors with TERT promoter mutation showed significantly greater Breslow thickness compared to WT tumors (P=0.039). A combined analysis for the presence of TERT promoter and BRAF mutations showed that patients with both TERT promoter and BRAF mutation showed decreased survival compared with those with only TERT promoter mutation, only BRAF mutation, or without mutations in either TERT promoter or BRAF (P=0.035). Our data provides additional evidence that UV-induced TERT promoter mutation frequencies vary depending on melanoma subtype, but preserves its prognostic value.

Original languageEnglish
Pages (from-to)134-138
Number of pages5
JournalAmerican Journal of Cancer Research
Issue number1
Publication statusPublished - 2017

Bibliographical note

Funding Information:
This work was made possible by a grant from the NIH (K24 CA149202 to HT), a grant from the Basic Science Research Program through the National Research Foundation of Korea, which is funded by the Ministry of Education, Science, and Technology (2011-0022376 to MRR), a grant of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health & Welfare, Republic of Korea (HI13C2096 to SYR) and the generous donors to the MGH Millennium Melanoma Fund and Innovations in Melanoma Care Fund.

All Science Journal Classification (ASJC) codes

  • Oncology
  • Cancer Research


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