Mutations in IDH1, IDH2, and in the TERT promoter define clinically distinct subgroups of adult malignant gliomas

Oncotarget

Volumn 5, Issue 6, 2014, Pages 1515-1525

  Killela, Patrick J ^a   Pirozzi, Christopher J ^a   Healy, Patrick ^a   Reitman, Zachary J ^a   Lipp, Eric ^a   Rasheed, B Ahmed ^a   Yang, Rui ^a   Diplas, Bill H ^a   Wang, Zhaohui ^a   Greer, Paula K ^a   Zhu, Huishan ^a   Wang, Catherine Y ^a   Carpenter, Austin B ^a   Friedman, Henry ^a   Friedman, Allan H ^a   Keir, Stephen T ^a   He, Jie ^b   He, Yiping ^a   McLendon, Roger E ^a   Herndon II, James E ^a   Yan, Hai ^a   Bigner, Darell D ^a   more..

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b CANCER HOSPITAL   (China)

Author keywords

Glioma; IDH1; IDH2; TERT promoter

Indexed keywords

ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2; TELOMERASE REVERSE TRANSCRIPTASE; IDH1 PROTEIN, HUMAN; ISOCITRATE DEHYDROGENASE; ISOCITRATE DEHYDROGENASE 2, HUMAN; TELOMERASE; TERT PROTEIN, HUMAN; TUMOR MARKER;

ADULT; ARTICLE; ASTROCYTOMA; CANCER CLASSIFICATION; CANCER GRADING; CANCER PROGNOSIS; CANCER SURVIVAL; DISEASE ASSOCIATION; FEMALE; GENE AMPLIFICATION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; GLIOBLASTOMA; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IDH1 GENE; IDH2 GENE; MAJOR CLINICAL STUDY; MALE; OLIGODENDROGLIOMA; ONCOGENE; OVERALL SURVIVAL; POLYMERASE CHAIN REACTION; PROMOTER REGION; TERT GENE; CLASSIFICATION; GENETICS; GLIOMA; MIDDLE AGED; MORTALITY; MUTATION; PATHOLOGY; PROGNOSIS; SURVIVAL RATE;

ADULT; FEMALE; GLIOMA; HUMANS; ISOCITRATE DEHYDROGENASE; MALE; MIDDLE AGED; MUTATION; NEOPLASM GRADING; PROGNOSIS; PROMOTER REGIONS, GENETIC; SURVIVAL RATE; TELOMERASE; TUMOR MARKERS, BIOLOGICAL;

EID: 84904247565     PISSN: None     EISSN: 19492553     Source Type: Journal    
DOI: 10.18632/oncotarget.1765     Document Type: Article

References (34)

1. Dolecek TA, Propp JM, Stroup NE and Kruchko C. CBTRUS statistical report: primary brain and central nervous system tumors diagnosed in the United States in 2005-2009. Neuro-oncology. 2012; 14 Suppl 5:v1-49.
2. Louis DN, Ohgaki H, Wiestler OD, Cavenee WK, Burger PC, Jouvet A, Scheithauer BW and Kleihues P. The 2007 WHO classification of tumours of the central nervous system. Acta neuropathologica. 2007; 114(2):97-109.
3. Scherer HJ. Cerebral Astrocytomas and Their Derivatives. The American Journal of Cancer. 1940; 40(2):159-198.
4. Wen PY and Kesari S. Malignant gliomas in adults. The New England journal of medicine. 2008; 359(5):492-507.
5. Cancer Genome Atlas Research N. Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature. 2008; 455(7216):1061-1068.
6. Parsons DW, Jones S, Zhang X, Lin JC, Leary RJ, Angenendt P, Mankoo P, Carter H, Siu IM, Gallia GL, Olivi A, McLendon R, Rasheed BA, Keir S, Nikolskaya T, Nikolsky Y, et al. An integrated genomic analysis of human glioblastoma multiforme. Science. 2008; 321(5897):1807-1812.
7. Brennan CW, Verhaak RG, McKenna A, Campos B, Noushmehr H, Salama SR, Zheng S, Chakravarty D, Sanborn JZ, Berman SH, Beroukhim R, Bernard B, Wu CJ, Genovese G, Shmulevich I, Barnholtz-Sloan J, et al. The Somatic Genomic Landscape of Glioblastoma. Cell. 2013; 155(2):462-477.
8. Jiao Y, Killela PJ, Reitman ZJ, Rasheed AB, Heaphy CM, de Wilde RF, Rodriguez FJ, Rosemberg S, Oba-Shinjo SM, Nagahashi Marie SK, Bettegowda C, Agrawal N, Lipp E, Pirozzi C, Lopez G, He Y, et al. Frequent ATRX, CIC, FUBP1 and IDH1 mutations refine the classification of malignant gliomas. Oncotarget. 2012; 3(7):709-722.
9. Johnson BE, Mazor T, Hong C, 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. 2013.
10. Phillips HS, Kharbanda S, Chen R, Forrest WF, Soriano RH, Wu TD, Misra A, Nigro JM, Colman H, Soroceanu L, Williams PM, Modrusan Z, Feuerstein BG and Aldape K. Molecular subclasses of high-grade glioma predict prognosis, delineate a pattern of disease progression, and resemble stages in neurogenesis. Cancer cell. 2006; 9(3):157-173.
11. Verhaak RG, Hoadley KA, Purdom E, Wang V, Qi Y, Wilkerson MD, Miller CR, Ding L, Golub T, Mesirov JP, Alexe G, Lawrence M, O'Kelly M, Tamayo P, Weir BA, Gabriel S, et al. Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1. Cancer cell. 2010; 17(1):98-110.
12. 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, Herndon J, Kinzler KW, Velculescu VE, et al. IDH1 and IDH2 mutations in gliomas. The New England journal of medicine. 2009; 360(8):765-773.
13. Griewank KG, Murali R, Schilling B, Scholz S, Sucker A, Song M, Susskind D, Grabellus F, Zimmer L, Hillen U, Steuhl KP, Schadendorf D, Westekemper H and Zeschnigk M. TERT promoter mutations in ocular melanoma distinguish between conjunctival and uveal tumours. British journal of cancer. 2013; 109(2):497-501.
14. Horn S, Figl A, Rachakonda PS, Fischer C, Sucker A, Gast A, Kadel S, Moll I, Nagore E, Hemminki K, Schadendorf D and Kumar R. TERT promoter mutations in familial and sporadic melanoma. Science. 2013; 339(6122):959-961.
15. Huang FW, Hodis E, Xu MJ, Kryukov GV, Chin L and Garraway LA. Highly recurrent TERT promoter mutations in human melanoma. Science. 2013; 339(6122):957-959.
16. 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(15):6021-6026.
17. Koelsche C, Sahm F, Capper D, Reuss D, Sturm D, Jones DT, 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.
18. Liu X, Wu G, Shan Y, Hartmann C, von Deimling A and Xing M. Highly prevalent TERT promoter mutations in bladder cancer and glioblastoma. Cell cycle. 2013; 12(10):1637-1638.
19. Vinagre J, Almeida A, Populo H, Batista R, Lyra J, Pinto V, Coelho R, Celestino R, Prazeres H, Lima L, Melo M, da 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.
20. Kim NW, Piatyszek MA, Prowse KR, Harley CB, West MD, Ho PL, Coviello GM, Wright WE, Weinrich SL and Shay JW. Specific association of human telomerase activity with immortal cells and cancer. Science. 1994; 266(5193):2011-2015.
21. Shay JW and Bacchetti S. A survey of telomerase activity in human cancer. European journal of cancer. 1997; 33(5):787-791.
22. Arita H, Narita Y, Fukushima S, Tateishi K, Matsushita Y, Yoshida A, Miyakita Y, Ohno M, Collins VP, Kawahara N, Shibui S and Ichimura K. Upregulating mutations in the TERT promoter commonly occur in adult malignant gliomas and are strongly associated with total 1p19q loss. Acta neuropathologica. 2013; 126(2):267-276.
23. Nonoguchi N, Ohta T, Oh JE, Kim YH, Kleihues P and Ohgaki H. TERT promoter mutations in primary and secondary glioblastomas. Acta neuropathologica. 2013.
24. Marian CO, Cho SK, McEllin BM, Maher EA, Hatanpaa KJ, Madden CJ, Mickey BE, Wright WE, Shay JW and Bachoo RM. The telomerase antagonist, imetelstat, efficiently targets glioblastoma tumor-initiating cells leading to decreased proliferation and tumor growth. Clinical cancer research: an official journal of the American Association for Cancer Research. 2010; 16(1):154-163.
25. Ruden M and Puri N. Novel anticancer therapeutics targeting telomerase. Cancer treatment reviews. 2013; 39(5):444-456.
26. Xia W, Wang P, Lin C, Li Z, Gao X, Wang G and Zhao X. Bioreducible polyethylenimine-delivered siRNA targeting human telomerase reverse transcriptase inhibits HepG2 cell growth in vitro and in vivo. Journal of controlled release: official journal of the Controlled Release Society. 2012; 157(3):427-436.
27. Zhang PH, Zou L and Tu ZG. RNAi-hTERT inhibition hepatocellular carcinoma cell proliferation via decreasing telomerase activity. J Surg Res. 2006; 131(1):143-149.
28. Ohgaki H and Kleihues P. Genetic alterations and signaling pathways in the evolution of gliomas. Cancer science. 2009; 100(12):2235-2241.
29. Bigner SH, Matthews MR, Rasheed BK, Wiltshire RN, Friedman HS, Friedman AH, Stenzel TT, Dawes DM, McLendon RE and Bigner DD. Molecular genetic aspects of oligodendrogliomas including analysis by comparative genomic hybridization. The American journal of pathology. 1999; 155(2):375-386.
30. Cairncross G and Jenkins R. Gliomas with 1p/19q codeletion: a.k.a. oligodendroglioma. Cancer journal. 2008; 14(6):352-357.
31. Jenkins RB, Blair H, Ballman KV, Giannini C, Arusell RM, Law M, Flynn H, Passe S, Felten S, Brown PD, Shaw EG and Buckner JC. A t(1;19)(q10;p10) mediates the combined deletions of 1p and 19q and predicts a better prognosis of patients with oligodendroglioma. Cancer research. 2006; 66(20):9852-9861.
32. Smith JS, Perry A, Borell TJ, Lee HK, O'Fallon J, Hosek SM, Kimmel D, Yates A, Burger PC, Scheithauer BW and Jenkins RB. Alterations of chromosome arms 1p and 19q as predictors of survival in oligodendrogliomas, astrocytomas, and mixed oligoastrocytomas. Journal of clinical oncology: official journal of the American Society of Clinical Oncology. 2000; 18(3):636-645.
33. Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, et al. The consensus coding sequences of human breast and colorectal cancers. Science. 2006; 314(5797):268-274.
34. Reifenberger J, Reifenberger G, Liu L, James CD, Wechsler W and Collins VP. Molecular genetic analysis of oligodendroglial tumors shows preferential allelic deletions on 19q and 1p. The American journal of pathology. 1994; 145(5):1175-1190.