TERT promoter mutations and polymorphisms as prognostic factors in primary glioblastoma

Oncotarget

Volumn 6, Issue 18, 2015, Pages 16663-16673

  Mosrati, Mohamed Ali ^a   Malmström, Annika ^a   Lysiak, Malgorzata ^a   Krysztofiak, Adam ^a   Hallbeck, Martin ^a   Milos, Peter ^a   Hallbeck, Anna Lotta ^a   Bratthäll, Charlotte ^b   Strandéus, Michael ^c   Stenmark Askmalm, Marie ^a   Söderkvist, Peter ^a  

^a LINKÖPING UNIVERSITY   (Sweden)

^b Department of Oncology District Hospital   (Sweden)

^c RYHOV COUNTY HOSPITAL   (Sweden)

Author keywords

Glioblastoma; IDH1 mutation; IL 6; TERT polymorphism; TERT promoter mutations

Indexed keywords

INTERLEUKIN 6; ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2; TELOMERASE REVERSE TRANSCRIPTASE; TUMOR NECROSIS FACTOR ALPHA; IDH1 PROTEIN, HUMAN; IL1B PROTEIN, HUMAN; IL6 PROTEIN, HUMAN; INTERLEUKIN 1BETA; ISOCITRATE DEHYDROGENASE; ISOCITRATE DEHYDROGENASE 2, HUMAN; MESSENGER RNA; POT1 PROTEIN, HUMAN; TELOMERASE; TELOMERE BINDING PROTEIN; TERT PROTEIN, HUMAN; TUMOR MARKER; TUMOR NECROSIS FACTOR;

ADULT; ARTICLE; BINDING SITE; CANCER PROGNOSIS; CANCER RISK; CANCER SURVIVAL; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CONTROLLED STUDY; FEMALE; GENE; GENE EXPRESSION REGULATION; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPING TECHNIQUE; GLIOBLASTOMA; HIGH RISK PATIENT; HOMOZYGOSITY; HUMAN; IDH1 GENE; IDH2 GENE; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; OVERALL SURVIVAL; POT1 GENE; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM; START CODON; SURVIVAL TIME; TERT GENE; BIOSYNTHESIS; GENETICS; MIDDLE AGED; MORTALITY; PATHOLOGY; PROGNOSIS;

BINDING SITES; BIOMARKERS, TUMOR; FEMALE; GLIOBLASTOMA; HUMANS; INTERLEUKIN-1BETA; INTERLEUKIN-6; ISOCITRATE DEHYDROGENASE; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; PROMOTER REGIONS, GENETIC; RNA, MESSENGER; TELOMERASE; TELOMERE-BINDING PROTEINS; TUMOR NECROSIS FACTOR-ALPHA;

EID: 84937923740     PISSN: None     EISSN: 19492553     Source Type: Journal    
DOI: 10.18632/oncotarget.4389     Document Type: Article

References (46)

1. Dolecek TA, Propp JM, Stroup NE, Kruchko C. CBTRUS statistical report: primary brain and central nervous system tumors diagnosed in the United States in 2005-2009. Neuro Oncol. 2012; 14:1-49.
2. Lacroix M, Abid-Said D, Foumey DR, Gokaslan ZL, Shi W, DeMonte F, Lang FF, McCutcheon IE, Hassenbusch SJ, Holland E, Hess K, Michael C, Miller D, Sawaya R. A multivariate analysis of 416 patients with glioblastoma multiforme: prognosis, extent of resection, and survival. J Neurosurg. 2001; 95:190-198.
3. Laws ER, Parney IF, Huang W, Anderson F, Morris AM, Asher A, Lillehei KO, Bernstein M, Brem H, Sloan A, Berger MS, Chang S. Glioma Outcomes Investigators. Survival following surgery and prognostic factors for recently diagnosed malignant glioma: data from the Glioma Outcomes Project. J Neurosurg. 2003; 99:467-473.
4. Hegi M.E, Diserens AC, Gorlia T, Hamou MF, de Tribolet N, Weller M, Kros JM, Hainfellner JA, Mason W, Mariani L, Bromberg JE, Hau P, MirimanoffRO, et al. MGMT gene silencing and benefit from temozolomide in glioblastoma. N Engl J Med. 2005; 352:997-1003.
5. Yan H, Parsons DW, Jin G, McLendon R, Rasheed BA, Yuan W, Kos I, Batinic-Haberle I, Jones S, Riggins GJ, Friedman H, Friedman A, Reardon D, et al. IDH1 and IDH2 mutations in gliomas. N Engl J Med. 2009; 360:765-773.
6. Hanahan D, Weinberg RA. Hallmarks of cancer: The next generation. Cell. 2011; 144:646-674.
7. Hiraga S, Ohnishi T, Izumoto S, Miyahara E, Kanemura Y, Matsumura H, Arita N. Telomerase activity and alterations in telomere length in human brain tumors. Cancer Res. 1998; 58:2117-2125.
8. Horn S, Figl A, Rachakonda PS, Fischer C, Sucker A, Gast A, Kadel S, Moll I, Nagore E, Hemminki K, Schadendorf D, Kumar R. TERT promoter mutations in familial and sporadic melanoma. Science. 2013; 339:959-961.
9. Huang FW, Hodis E, Xu MJ, Kryukov GV, Chin L, Garraway LA. Highly recurrent TERT promoter mutations in human melanoma. Science. 2013; 339:957-959.
10. Killela PJ, Reitman ZJ, Jiao Y, Bettegowda C, Agrawal N, Diaz LA Jr, Friedman AH, Friedman H, Gallia GL, Giovanella BC, Grollman AP, He TC, He Y, et al. TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal. Proc Natl Acad Sci USA. 2013; 110:6021-6026.
11. Arita H, Narita Y, Fukushima S, Tateishi K, Matsushita Y, Yoshida A, Miyakita Y, Ohno M, Collins VP, Kawahara N, Shibui S, Ichimura K. Upregulating mutations in the TERT promoter commonly occur in adult malignant gliomas and are strongly associated with total 1p19q loss. Acta Neuropathol. 2013; 126:267-276.
12. Bojesen SE, Pooley KA, Johnatty SE, Beesley J, Michailidou K, Tyrer JP, Edwards SL, Pickett HA, Shen HC, Smart CE, Hillman KM, Mai PL, Lawrenson K, et al. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet. 2013; 45:371-384.
13. Rachakonda PS, Hosen I, de Verdier PJ, Fallah M, Heidenreich B, Ryk C, Wiklund NP, Steineck G, Schadendorf D, Hemminki K, Kumar R. TERT promoter mutations in bladder cancer affect patient survival and disease recurrence through modification by a common polymorphism. PNAS. 2013; 110:17426-17431.
14. Spiegl-Kreinecker S, Lötsch D, Ghanim B, Pirker C, Mohr T, Laaber M, Weis S, Olschowski A, Webersinke G, Pichler J, Berger W. Prognostic quality of activating TERT promoter mutations in glioblastoma: interaction with the rs2853669 polymorphism and patient age at diagnosis. Neuro Oncol. 2015; 1-10.
15. McKay JD, Hung RJ, Gaborieau V, Boffetta P, Chabrier A, Byrnes G, Zaridze D, Mukeria A. Lung cancer susceptibility locus at 5p15.33. Nat Genet. 2008; 40:1404-1406.
16. Yang J, Jiao S. Increased lung cancer risk associated with the TERT rs2736100 polymorphism: an updated meta-analysis. Tumour Biol. 2014; 35:5763-5769.
17. Rajaraman P, Melin BS, Wang Z, McKean-Cowdin R, Michaud DS, Wang SS, Bondy M, Houlston R, Jenkins RB, Wrensch M, Yeager M, Ahlbom A, Albanes D, et al. Genome-wide association study of glioma and meta-analysis. Hum Genet. 2012; 131:1877-1888.
18. Egan KM, Thompson RC, Nabors LB, Olson JJ, Brat DJ, Larocca RV, Brem S, Moots PL, Madden MH, Browning JE, Ann Chen Y. Cancer susceptibility variants and the risk of adult glioma in a US case-control study. J Neurooncol. 2011; 104:535-542.
19. Jenkins RB, Wrensch MR, Johnson D, Fridley BL, Decker PA, Xiao Y, Kollmeyer TM, Rynearson AL, Fink S, Rice T, McCoy LS, Halder C, Kosel ML, et al. Distinct germ line polymorphisms underlie glioma morphologic heterogeneity. Cancer Genet. 2011; 204:13-18.
20. Kelleher C, Kurth I, Lingner J. Human protection of telomeres 1 (POT1) is a negative regulator of telomerase activity in vitro. Mol Cell Biol. 2005; 25:808-818.
21. Ferrandon S, Saultier P, Carras J, Battiston-Montagne P, Alphonse G, Beuve M, Malleval C, Honnorat J, Slatter T, Hung N, Royds J, Rodriguez-Lafrasse C, Poncet D. Telomere Profiling: Toward Glioblastoma Personalized Medecine. Mol Neurobiol. 2013; 47:64-76.
22. Nittis T, Guittat L, Stewart SA. Alternative lengthening of telomeres (ALT) and chromatin: Is there a connection? Biochimie. 2008; 90:5-12.
23. Jung SW, Park NH, Shin JW, Park BR, Kim CJ, Lee JE, Shin ES, Kim JA, Chung YH. Prognostic impact of telomere maintenance gene polymorphisms on hepatocellular carcinoma patients with chronic hepatitis B. Hepatology. 2014; 59:1912-1920.
24. Ghosh A, Saginc G, Leow SC, Khattar E, Shin EM, Yan TD, Wong M, Zhang Z, Li G, Sung WK, Zhou J, Chng WJ, Li S, et al. Telomerase directly regulates NF-κB-dependent transcription. Nat Cell Biol. 2012; 14:1270-1281.
25. Wang F, Fu P, Pang Y, Liu C, Shao Z, Zhu J, Li J, Wang T, Zhang X, Liu J. TERT rs2736100T/G polymorphism upregulates interleukin 6 expression in non-small cell lung cancer especially in adenocarcinoma. Tumour Biol. 2014; 35:4667-4672.
26. Yeung YT, McDonald KL, Grewal T, Munoz L. Interleukins in glioblastoma pathophysiology: implications for therapy. Br J Pharmacol. 2013; 168:591-606.
27. Titia de Lange How Telomeres Solve the End-Protection Problem. Science. 2009; 326:948-952.
28. Shete S, Hosking FJ, Robertson LB, Dobbins SE, Sanson M, Malmer B, Simon M, Marie Y, Boisselier B, Delattre JY, Hoang-Xuan K, El Hallani S, Idbaih A, et al. Genome-wide association study identifies five susceptibility loci for glioma. Nat Genet. 2009; 41:899-904.
29. Zhou P, Wei L, Xia X, Shao N, Qian X, Yang Y. Association between telomerase reverse transcriptase rs2736100 polymorphism and risk of glioma. Journal of Surgical Research. 2014; 1-5.
30. Simon M, Hosking FJ, Marie Y Gousias K, Boisselier B, Carpentier C, Schramm J, Mokhtari K, Hoang-Xuan K, Idbaih A, Delattre JY, Lathrop M, Robertson LB, et al. Genetic risk profiles identify different molecular etiologies for glioma. Clin Cancer Res. 2010; 16:5252-5259.
31. Daking Xu, Dwyer J, Li H, Duan W, Liu JP. Ets2 maintains hTERT gene expression and breast cancer cell proliferation by interacting with c-Myc. J Biol Chem. 2008; 283:23567-23580.
32. Hsu CP, Hsu NY, Lee LW, Ko JL. Ets2 binding site single nucleotide polymorphism at the hTERT gene promoter- effect on telomerase expression and telomere length maintenance in non-small cell lung cancer. Eur J Cancer. 2006; 42:1466-1474.
33. Labussière M, Di Stefano AL, Gleize V1, Boisselier B, Giry M, Mangesius S, Bruno A, Paterra R, Marie Y, Rahimian A, Finocchiaro G, Houlston RS, Hoang-Xuan K, Idbaih A, Delattre JY, Mokhtari K, Sanson M. TERT promoter mutations in gliomas, genetic associations and clinico-pathological correlations. Br J Cancer. 2014; 111:2024-2032.
34. Simon M, Hosen I, Gousias K, Rachakonda S, Heidenreich B, Gessi M, Schramm J, Hemminki K, Waha A, Kumar R. TERT promoter mutations: a novel independent prognostic factor in primary glioblastomas. Neuro Oncol. 2015; 17:45-52.
35. Nonoguchi N, Ohta T, Oh JE, Kim YH, Kleihues P, Ohgaki H. TERT promoter mutations in primary and secondary glioblastomas. Acta Neuropathol. 2013; 126:931-937.
36. Park CK, Lee SH, Kim JY, Kim JE, Kim TM, Lee ST, Choi SH, Park SH, Kim IH. Expression level of hTERT is regulated by somatic mutation and common single nucleotide polymorphism at promoter region in glioblastoma. Oncotarget. 2014; 305:3399-3407.
37. Nobusawa S, Watanabe T, Kleihues P, Ohgaki H. IDH1 Mutations as Molecular Signature and Predictive Factor of Secondary Glioblastomas. Clin Cancer Res. 2009; 15:6002-6007.
38. Ramsay AJ, Quesada V, Foronda M, Conde L, Martínez-Trillos A, Villamor N, Rodríguez D, Kwarciak A, Garabaya C, Gallardo M, López-Guerra M, López-Guillermo A, Puente XS, et al. POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia. Nat Genet. 2013; 45:526-530.
39. Savage SA, Chanock SJ, Lissowska J, Brinton LA, Richesson D, Peplonska B, Bardin-Mikolajczak A, Zatonski W, Szeszenia-Dabrowska N, Garcia-Closas M. Genetic variation in five genes important in telomere biology and risk for breast cancer. Br J Cancer. 2007; 97:832-836.
40. Hosgood HD, Menashe I, Shen M, Yeager M, Yuenger J, Rajaraman P, He X, Chatterjee N, Caporaso NE, Zhu Y, Chanock SJ, Zheng T, Lan Q. Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway. Carcinogenesis. 2008; 29:1938-1943.
41. Culig Z. Interleukin-6 as a therapy target in oral squamous carcinoma. Expert Opin Ther Targets. 2013; 17:53-59.
42. Coward JI, Kulbe H. The role of interleukin-6 in gynaecological malignancies. Cytokine Growth Factor Rev. 2012; 23:333-342.
43. Rolhion C, Penault-Llorca F, Kémény JL, Lemaire JJ, Jullien C, Labit-Bouvier C, Finat-Duclos F, Verrelle P. Interleukin-6 overexpression as a marker of malignancy in human gliomas. J Neurosurg. 2001; 94:97-101.
44. Chang CY, Li MC, Liao SL, Huang YL, Shen CC, Pan HC. Prognostic and clinical implication of IL-6 expression in glioblastoma multiforme. J Clin Neurosci. 2005; 12:930-933.
45. Green H, Soderkvist P, Rosenberg P, Horvath G, Peterson C. mdr-1 single nucleotide polymorphisms in ovarian cancer tissue: G2677T/A correlates with response to paclitaxel chemotherapy. Clin Cancer Res. 2006; 12:854-859.
46. Liu X, Wu G, Shan Y, Hartmann C, von Deimling A, Xing M. Highly prevalent TERT promoter mutations in bladder cancer and glioblastoma. Cell Cycle. 2013; 12:1637-1638.