Prevalence of promoter mutations in the TERT gene in oral cavity squamous cell carcinoma

被引:42
作者
Chang, Kai-Ping [1 ,2 ,8 ]
Wang, Chun-I [1 ]
Pickering, Curtis R. [3 ]
Huang, Yenlin [4 ]
Tsai, Chi-Neu [5 ]
Tsang, Ngan-Ming [6 ]
Kao, Huang-Kai [7 ,8 ]
Cheng, Ming-Huei [7 ,8 ]
Myers, Jeffrey N. [3 ]
机构
[1] Chang Gung Mem Hosp, Dept Otolaryngol Head & Neck Surg, Tao Yuan, Taiwan
[2] Chang Gung Univ, Coll Med, Mol Med Res Ctr, Tao Yuan, Taiwan
[3] Univ Texas MD Anderson Canc Ctr, Dept Head & Neck Surg, 1515 Holcombe, Houston, TX 77030 USA
[4] Chang Gung Mem Hosp, Dept Pathol, Tao Yuan, Taiwan
[5] Chang Gung Univ, Grad Inst Clin Med Sci, Tao Yuan, Taiwan
[6] Chang Gung Mem Hosp, Dept Radiat Oncol, Tao Yuan, Taiwan
[7] Chang Gung Mem Hosp, Dept Plast & Reconstruct Surg, Tao Yuan, Taiwan
[8] Chang Gung Univ, Coll Med, Tao Yuan, Taiwan
来源
HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK | 2017年 / 39卷 / 06期
基金
美国国家卫生研究院;
关键词
oral cavity squamous cell carcinoma; telomere; telomerase reverse transcriptase; promoter; mutation; MITOCHONDRIAL-DNA MUTATIONS; BETEL-NUT; CANCER; TELOMERASE; EXPRESSION; RECURRENCE; DIFFERENTIATION; PROLIFERATION; SMOKING; DISEASE;
D O I
10.1002/hed.24728
中图分类号
R76 [耳鼻咽喉科学];
学科分类号
100213 ;
摘要
Background. Mutations in the human telomerase reverse transcriptase (TERT) promoter contribute to increased TERT activity. The purpose of the present study was to assess the prevalence of TERT promoter mutations in oral cavity squamous cell carcinoma (SCC). Methods. Total DNA was extracted from 201 oral cavity SCC tumors and adjacent normal tissues. Primers were used to amplify the sequence region containing 2 TERT promoter mutations (C228T and C250T) that were then sequenced using the Sanger method. Results. Sequencing revealed that 52.5% (104/201) and 12.9% (26/201) of oral cavity SCC tumor tissues and 6.0% (12/201) and 2.5% (5/201) of adjacent normal tissues contained C228T and C250T mutations, respectively. In addition, the C228T mutation was significantly associated with betel nut chewing. Conclusion. Our results show that mutations in the TERT promoter occur in patients with oral cavity SCC at a high frequency. This suggests that somatic TERT promoter mutations could play a vital role in the pathogenesis and progression of oral cavity SCC. (C) 2017 Wiley Periodicals, Inc.
引用
收藏
页码:1131 / 1137
页数:7
相关论文
共 50 条
[1]   Long-Range Chromatin Interactions Drive Mutant TERT Promoter Activation [J].
Akincilar, Semih Can ;
Khattar, Ekta ;
Boon, Priscilla Li Shan ;
Unal, Bilal ;
Fullwood, Melissa Jane ;
Tergaonkar, Vinay .
CANCER DISCOVERY, 2016, 6 (11) :1276-1291
[2]  
[Anonymous], 2018, ANTI-CANCER DRUG, DOI [DOI 10.3322/caac.20115, DOI 10.1097/CAD.0000000000000617]
[3]   Melanoma genome sequencing reveals frequent PREX2 mutations [J].
Berger, Michael F. ;
Hodis, Eran ;
Heffernan, Timothy P. ;
Deribe, Yonathan Lissanu ;
Lawrence, Michael S. ;
Protopopov, Alexei ;
Ivanova, Elena ;
Watson, Ian R. ;
Nickerson, Elizabeth ;
Ghosh, Papia ;
Zhang, Hailei ;
Zeid, Rhamy ;
Ren, Xiaojia ;
Cibulskis, Kristian ;
Sivachenko, Andrey Y. ;
Wagle, Nikhil ;
Sucker, Antje ;
Sougnez, Carrie ;
Onofrio, Robert ;
Ambrogio, Lauren ;
Auclair, Daniel ;
Fennell, Timothy ;
Carter, Scott L. ;
Drier, Yotam ;
Stojanov, Petar ;
Singer, Meredith A. ;
Voet, Douglas ;
Jing, Rui ;
Saksena, Gordon ;
Barretina, Jordi ;
Ramos, Alex H. ;
Pugh, Trevor J. ;
Stransky, Nicolas ;
Parkin, Melissa ;
Winckler, Wendy ;
Mahan, Scott ;
Ardlie, Kristin ;
Baldwin, Jennifer ;
Wargo, Jennifer ;
Schadendorf, Dirk ;
Meyerson, Matthew ;
Gabriel, Stacey B. ;
Golub, Todd R. ;
Wagner, Stephan N. ;
Lander, Eric S. ;
Getz, Gad ;
Chin, Lynda ;
Garraway, Levi A. .
NATURE, 2012, 485 (7399) :502-506
[4]   Telomeres and human disease: Ageing, cancer and beyond [J].
Blasco, MA .
NATURE REVIEWS GENETICS, 2005, 6 (08) :611-622
[5]  
BLOT WJ, 1988, CANCER RES, V48, P3282
[6]   TERT promoter mutations are a major indicator of recurrence and death due to papillary thyroid carcinomas [J].
Bullock, Martyn ;
Ren, Yan ;
O'Neill, Christine ;
Gill, Anthony ;
Aniss, Adam ;
Sywak, Mark ;
Sidhu, Stan ;
Delbridge, Leigh ;
Learoyd, Diana ;
de Vathaire, Florent ;
Robinson, Bruce G. ;
Clifton-Bligh, Roderick J. .
CLINICAL ENDOCRINOLOGY, 2016, 85 (02) :283-290
[7]   Oral Sexual Behaviors Associated with Prevalent Oral Human Papillomavirus Infection [J].
D'Souza, Gypsyamber ;
Agrawal, Yuri ;
Halpern, Jane ;
Bodison, Sacared ;
Gillison, Maura L. .
JOURNAL OF INFECTIOUS DISEASES, 2009, 199 (09) :1263-1269
[8]   Regulation of the human catalytic subunit of telomerase (hTERT) [J].
Daniel, Michael ;
Peek, Gregory W. ;
Tollefsbol, Trygve O. .
GENE, 2012, 498 (02) :135-146
[9]   Transcriptional regulation of telomerase activity - Roles of the the Ets transcription factor family [J].
Dwyer, Julie ;
Li, He ;
Xu, Dakang ;
Liu, Jun-Ping .
HEALTHY AGING AND LONGEVITY, 2007, 1114 :36-47
[10]   Histological differentiation of primary oral squamous cell carcinomas in an area of betel quid chewing prevalence [J].
Fang, Ku-Hao ;
Kao, Huang-Kai ;
Cheng, Ming-Hui ;
Chang, Yu-Liang ;
Tsang, Ngan-Ming ;
Huang, Yu-Chen ;
Lee, Li-Yu ;
Yu, Jau-Song ;
Hao, Sheng-Po ;
Chang, Kai-Ping .
OTOLARYNGOLOGY-HEAD AND NECK SURGERY, 2009, 141 (06) :743-749