TERT promoter mutations and telomere length in adult malignant gliomas and recurrences

Oncotarget

Volumn 6, Issue 12, 2015, Pages 10617-10633

  Heidenreich, Barbara ^a   Sivaramakrishna Rachakonda, P ^a   Hosen, Ismail ^a   Volz, Florian ^b   Hemminki, Kari ^a,c   Weyerbrock, Astrid ^b   Kumar, Rajiv ^a  

^a GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c LUND UNIVERSITY   (Sweden)

Author keywords

Gliomas; IDH; Telomere length; TERT expression; TERT promoter

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2A; CYCLIN DEPENDENT KINASE INHIBITOR 2B; ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2; MESSENGER RNA; TELOMERASE REVERSE TRANSCRIPTASE; TEMOZOLOMIDE; TELOMERASE; TERT PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; ASTROCYTOMA; CANCER ADJUVANT THERAPY; CANCER CHEMOTHERAPY; CANCER GRADING; CANCER PROGNOSIS; CANCER RADIOTHERAPY; CANCER RECURRENCE; CDKN2A GENE; CDKN2B GENE; CHILD; CHROMOSOME 19Q; CHROMOSOME 1P; CHROMOSOME DELETION; CONTROLLED STUDY; FEMALE; GENE FUNCTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GLIOBLASTOMA; HUMAN; HUMAN TISSUE; IDH1 GENE; IDH2 GENE; MAJOR CLINICAL STUDY; MALE; OLIGODENDROGLIOMA; OVERALL SURVIVAL; PROGRESSION FREE SURVIVAL; PROMOTER REGION; SURVIVAL TIME; TELOMERE; TELOMERE LENGTH; TERT GENE; ADOLESCENT; BRAIN TUMOR; DISEASE FREE SURVIVAL; ENZYMOLOGY; GENETICS; GLIOMA; MIDDLE AGED; MUTATION; PATHOLOGY; PROGNOSIS; TUMOR RECURRENCE; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BRAIN NEOPLASMS; CHILD; DISEASE-FREE SURVIVAL; FEMALE; GLIOMA; HUMANS; MALE; MIDDLE AGED; MUTATION; NEOPLASM RECURRENCE, LOCAL; PROGNOSIS; PROMOTER REGIONS, GENETIC; TELOMERASE; TELOMERE; YOUNG ADULT;

EID: 84929600818     PISSN: None     EISSN: 19492553     Source Type: Journal    
DOI: 10.18632/oncotarget.3329     Document Type: Article

References (54)

1. Ostrom QT, Bauchet L, Davis FG, Deltour I, Fisher JL, Langer CE, Pekmezci M, Schwartzbaum JA, Turner MC, Walsh KM, Wrensch MR, Barnholtz-Sloan JS. The epidemiology of glioma in adults: a "state of the science" review. Neuro Oncol. 2014.
2. Louis DN, Ohgaki H, Wiestler OD, Cavenee WK, Burger PC, Jouvet A, Scheithauer BW, Kleihues P. The WHO classification of tumours of the central nervous system. Acta neuropathologica. 2007; 114:97-109.
3. Goodenberger ML, Jenkins RB. Genetics of adult glioma. Cancer genetics. 2012; 205:613-621.
4. Ostrom QT, Gittleman H, Farah P, Ondracek A, Chen Y, Wolinsky Y, Stroup NE, Kruchko C, Barnholtz-Sloan JS. CBTRUS statistical report: Primary brain and central nervous system tumors diagnosed in the United States in 2006-2010. Neuro Oncol. 2013; 15:ii1-56.
5. Ohgaki H, Kleihues P. Genetic pathways to primary and secondary glioblastoma. The American journal of pathology. 2007; 170:1445-1453.
6. Gupta M, Djalilvand A, Brat DJ. Clarifying the diffuse gliomas: an update on the morphologic features and markers that discriminate oligodendroglioma from astrocytoma. American journal of clinical pathology. 2005; 124:755-768.
7. Tilgner J, Herr M, Ostertag C, Volk B. Validation of intraoperative diagnoses using smear preparations from stereotactic brain biopsies: intraoperative versus final diagnosis-influence of clinical factors. Neurosurgery. 2005; 56:257-265; discussion 257-265.
8. Prabhu S, Harris F, Lea R, Snape TJ. Small-molecule clinical trial candidates for the treatment of glioma. Drug discovery today. 2014.
9. Krell D, Mulholland P, Frampton AE, Krell J, Stebbing J, Bardella C. IDH mutations in tumorigenesis and their potential role as novel therapeutic targets. Future oncology. 2013; 9:1923-1935.
10. van den Bent MJ. Interobserver variation of the histopathological diagnosis in clinical trials on glioma: a clinician's perspective. Acta neuropathologica. 2010; 120:297-304.
11. Weller M, Felsberg J, Hartmann C, Berger H, Steinbach JP, Schramm J, Westphal M, Schackert G, Simon M, Tonn JC, Heese O, Krex D, Nikkhah G, Pietsch T, Wiestler O, Reifenberger G, et al. Molecular predictors of progression-free and overall survival in patients with newly diagnosed glioblastoma: a prospective translational study of the German Glioma Network. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2009; 27:5743-5750.
12. Okita Y, Narita Y, Miyakita Y, Ohno M, Matsushita Y, Fukushima S, Sumi M, Ichimura K, Kayama T, Shibui S. IDH1/2 mutation is a prognostic marker for survival and predicts response to chemotherapy for grade II gliomas concomitantly treated with radiation therapy. International journal of oncology. 2012; 41:1325-1336.
13. Ichimura K, Pearson DM, Kocialkowski S, Backlund LM, Chan R, Jones DT, Collins VP. IDH1 mutations are present in the majority of common adult gliomas but rare in primary glioblastomas. Neuro Oncol. 2009; 11:341-347.
14. Appin CL, Brat DJ. Molecular genetics of gliomas. Cancer journal. 2014; 20:66-72.
15. Zhao J, Ma W, Zhao H. Loss of heterozygosity 1p/19q and survival in glioma: a meta-analysis. Neuro Oncol. 2014; 16:103-112.
16. Remke M, Ramaswamy V, Peacock J, Shih DJ, Koelsche C, Northcott PA, Hill N, Cavalli FM, Kool M, Wang X, Mack SC, Barszczyk M, Morrissy AS, Wu X, Agnihotri S, Luu B, et al. TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma. Acta neuropathologica. 2013; 126:917-929.
17. Koelsche C, Sahm F, Capper D, Reuss D, Sturm D, Jones DTW, Kool M, Northcott PA, Wiestler B, Bohmer K, Meyer J, Mawrin C, Hartmann C, Mittelbronn M, Platten M, Brokinkel B, et al. Distribution of TERT promoter mutations in pediatric and adult tumors of the nervous system. Acta neuropathologica. 2013; 126:907-915.
18. 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.
19. Heidenreich B, Rachakonda PS, Hemminki K, Kumar R. TERT promoter mutations in cancer development. Curr Opin Genet Dev. 2014; 24:30-37.
20. Wang K, Liu T, Liu L, Liu J, Liu C, Wang C, Ge N, Ren H, Yan K, Hu S, Bjorkholm M, Fan Y, Xu D. TERT promoter mutations in renal cell carcinomas and upper tract urothelial carcinomas. Oncotarget. 2014; 5:1829-1836.
21. Wang K, Liu T, Ge N, Liu L, Yuan X, Liu J, Kong F, Wang C, Ren H, Yan K, Hu S, Xu Z, Bjorkholm M, Fan Y, Zhao S, Liu C, et al. TERT promoter mutations are associated with distant metastases in upper tract urothelial carcinomas and serve as urinary biomarkers detected by a sensitive castPCR. Oncotarget. 2014; 5:12428-12439.
22. Delude C. TERT Promoter Eyed With Suspicion and Hope. Journal of the National Cancer Institute. 2014; 106.
23. 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.
24. Killela PJ, Pirozzi CJ, Healy P, Reitman ZJ, Lipp E, Rasheed BA, Yang R, Diplas BH, Wang Z, Greer PK, Zhu H, Wang CY, Carpenter AB, Friedman H, Friedman AH, Keir ST, et al. Mutations in IDH1, IDH2, and in the TERT promoter define clinically distinct subgroups of adult malignant gliomas. Oncotarget. 2014; 5:1515-1525.
25. 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.
26. Olar A, Prabhu SS. Molecular classification of diffuse gliomas. Oncology. 2013; 27:514-518520.
27. Labussiere M, Di Stefano AL, Gleize V, 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, et al. TERT promoter mutations in gliomas, genetic associations and clinico-pathological correlations. British journal of cancer. 2014; 111:2024-2032.
28. Heidenreich B, Nagore E, Rachakonda PS, Garcia-Casado Z, Requena C, Traves V, Becker J, Soufir N, Hemminki K, Kumar R. Telomerase reverse transcriptase promoter mutations in primary cutaneous melanoma. Nature communications. 2014; 5:3401.
29. Killela P, Reitman Z, Jiao YC, McLendon R, Vogelstein B, Bigner D, Diaz L, Yan H. Frequent ATRX, CIC, FUBP1 and IDH1 Mutations Refine the Classification of Malignant Gliomas. J Neuropath Exp Neur. 2013; 72:542-542.
30. Reitman ZJ, Pirozzi CJ, Yan H. Promoting a new brain tumor mutation: TERT promoter mutations in CNS tumors. Acta neuropathologica. 2013; 126:789-792.
31. Nonoguchi N, Ohta T, Oh JE, Kim YH, Kleihues P, Ohgaki H. TERT promoter mutations in primary and secondary glioblastomas. Acta neuropathologica. 2013.
32. Arita H, Narita Y, Takami H, Fukushima S, Matsushita Y, Yoshida A, Miyakita Y, Ohno M, Shibui S, Ichimura K. TERT promoter mutations rather than methylation are the main mechanism for TERT upregulation in adult gliomas. Acta neuropathologica. 2013; 126:939-941.
33. Chen C, Han S, Meng L, Li Z, Zhang X, Wu A. TERT Promoter Mutations Lead to High Transcriptional Activity under Hypoxia and Temozolomide Treatment and Predict Poor Prognosis in Gliomas. PloS one. 2014; 9:e100297.
34. Vinagre J, Almeida A, Populo H, Batista R, Lyra J, Pinto V, Coelho R, Celestino R, Prazeres H, Lima L, Melo M, Rocha AG, Preto A, Castro P, Castro L, Pardal F, et al. Frequency of TERT promoter mutations in human cancers. Nature communications. 2013; 4:2185.
35. 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; 5:3399-3407.
36. Reifenberger J, Reifenberger G, Liu L, James CD, Wechsler W, Collins VP. Molecular genetic analysis of oligodendroglial tumors shows preferential allelic deletions on 19q and 1p. The American journal of pathology. 1994; 145:1175-1190.
37. 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, Hruban RH, Jallo GI, Mandahl N, et al. TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal. Proceedings of the National Academy of Sciences of the United States of America. 2013; 110:6021-6026.
38. Johnson BE, Mazor T, Hong CB, Barnes M, Aihara K, McLean CY, Fouse SD, Yamamoto S, Ueda H, Tatsuno K, Asthana S, Jalbert LE, Nelson SJ, Bollen AW, Gustafson WC, Charron E, et al. Mutational Analysis Reveals the Origin and Therapy-Driven Evolution of Recurrent Glioma. Science. 2014; 343:189-193.
39. Labussiere M, Boisselier B, Mokhtari K, Di Stefano AL, Rahimian A, Rossetto M, Ciccarino P, Saulnier O, Paterra R, Marie Y, Finocchiaro G, Sanson M. Combined analysis of TERT, EGFR, and IDH status defines distinct prognostic glioblastoma classes. Neurology. 2014; 83:1200-1206.
40. 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. 2014.
41. Killela PJ, Reitman ZJ, Jiao YC, Bettegowda C, Agrawal N, Diaz LA, Friedman AH, Friedman H, Gallia GL, Giovanella BC, Grollman AP, He TC, He YP, Hruban RH, Jallo GI, Mandahl N, et al. TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal. Proceedings of the National Academy of Sciences of the United States of America. 2013; 110:6021-6026.
42. 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.
43. 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, Hruban RH, Jallo GI, Mandahl N, 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 U S A. 2013.
44. Liu T, Wang N, Cao J, Sofiadis A, Dinets A, Zedenius J, Larsson C, Xu D. The age-and shorter telomere-dependent TERT promoter mutation in follicular thyroid cell-derived carcinomas. Oncogene. 2014; 33:4978-4984.
45. Xie H, Liu T, Wang N, Bjornhagen V, Hoog A, Larsson C, Lui WO, Xu D. TERT promoter mutations and gene amplification: promoting TERT expression in Merkel cell carcinoma. Oncotarget. 2014; 5:10048-10057.
46. Mason PJ, Perdigones N. Telomere biology and translational research. Translational research : the journal of laboratory and clinical medicine. 2013; 162:333-342.
47. Yu L, Liu S, Zhang C, Zhang B, Simoes BM, Eyre R, Liang Y, Yan H, Wu Z, Guo W, Clarke RB. Enrichment of human osteosarcoma stem cells based on hTERT transcriptional activity. Oncotarget. 2013; 4:2326-2338.
48. Campbell PJ. Telomeres and cancer: from crisis to stability to crisis to stability. Cell. 2012; 148:633-635.
49. Ye D, Ma S, Xiong Y, Guan KL. R-2-hydroxyglutarate as the key effector of IDH mutations promoting oncogenesis. Cancer Cell. 2013; 23:274-276.
50. Zhang C, Moore LM, Li X, Yung WK, Zhang W. IDH1/2 mutations target a key hallmark of cancer by deregulating cellular metabolism in glioma. Neuro Oncol. 2013; 15:1114-1126.
51. Lotsch D, Ghanim B, Laaber M, Wurm G, Weis S, Lenz S, Webersinke G, Pichler J, Berger W, Spiegl-Kreinecker S. Prognostic significance of telomerase-associated parameters in glioblastoma: effect of patient age. Neuro-Oncology. 2013; 15:423-432.
52. Melin B, Jenkins R. Genetics in glioma: lessons learned from genome-wide association studies. Current opinion in neurology. 2013; 26:688-692.
53. Cawthon RM. Telomere length measurement by a novel monochrome multiplex quantitative PCR method. Nucleic acids research. 2009; 37.
54. Shen M, Cawthon R, Rothman N, Weinstein SJ, Virtamo J, Hosgood HD, Hu W, Lim U, Albanes D, Lan Q. A prospective study of telomere length measured by monochrome multiplex quantitative PCR and risk of lung cancer. Lung Cancer. 2011; 73:133-137.