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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 
 American Journal of Cancer Research, Vol.7(1) : 134-138, 2017 
Journal Title
 American Journal of Cancer Research 
Issue Date
Korean ; TERT mutation ; melanoma ; prognosis ; survival
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.
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1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Dermatology (피부과학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실)
Yonsei Authors
노미령(Roh, Mi Ryung) ORCID logo https://orcid.org/0000-0002-6285-2490
라선영(Rha, Sun Young)
박규현(Park, Kyu Hyun)
신상준(Shin, Sang Joon)
정기양(Chung, Kee Yang)
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