Association between TERT promoter polymorphisms and acute myeloid leukemia risk and prognosis

Oncotarget

Volumn 6, Issue 28, 2015, Pages 1-12

  Mosrati, Mohamed Ali ^a   Willander, Kerstin ^a   Falk, Ingrid Jakobsen ^a   Hermanson, Monica ^b   Höglund, Martin ^c   Stockelberg, Dick ^d   Wei, Yuan ^d   Lotfi, Kourosh ^a,e   Söderkvist, Peter ^a  

^a LINKÖPING UNIVERSITY   (Sweden)

^b UPPSALA UNIVERSITY   (Sweden)

^c UPPSALA UNIVERSITY   (Sweden)

^d SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^e Regional Cancer Centre Southeast   (Sweden)

Author keywords

AML; Prognostic markers; SNV; TERT

Indexed keywords

TELOMERASE REVERSE TRANSCRIPTASE; TELOMERASE; TERT PROTEIN, HUMAN; TUMOR MARKER;

ACUTE MYELOBLASTIC LEUKEMIA; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CANCER PROGNOSIS; CANCER RISK; CANCER SURVIVAL; CONTROLLED STUDY; FEMALE; GENE; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; HUMAN TISSUE; KARYOTYPE; MAJOR CLINICAL STUDY; MALE; OVERALL SURVIVAL; PROMOTER REGION; PROTECTION OF TELOMERES 1 GENE; RISK FACTOR; TELOMERASE REVERSE TRANSCRIPTASE GENE; ADOLESCENT; AGE; CASE CONTROL STUDY; DNA MUTATIONAL ANALYSIS; ENZYMOLOGY; GENE FREQUENCY; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; HOMOZYGOTE; KAPLAN MEIER METHOD; KARYOTYPING; LEUKEMIA, MYELOID, ACUTE; MIDDLE AGED; MORTALITY; MULTIVARIATE ANALYSIS; MUTATION; ODDS RATIO; PHENOTYPE; PROPORTIONAL HAZARDS MODEL; SINGLE NUCLEOTIDE POLYMORPHISM; TIME FACTOR; TREATMENT OUTCOME; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGE FACTORS; AGED; AGED, 80 AND OVER; BIOMARKERS, TUMOR; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; KAPLAN-MEIER ESTIMATE; KARYOTYPING; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; MULTIVARIATE ANALYSIS; MUTATION; ODDS RATIO; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; PROPORTIONAL HAZARDS MODELS; RISK FACTORS; TELOMERASE; TIME FACTORS; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84944458849     PISSN: None     EISSN: 19492553     Source Type: Journal    
DOI: 10.18632/oncotarget.4668     Document Type: Article

References (51)

1. Chen CH, Chen RJ. Prevalence of telomerase activity in human cancer. J Formos Med Assoc. 2011; 110:275-289.
2. Weinrich SL, Pruzan R, Ma L, Ouellette M, Tesmer VM, Holt SE, Bodnar AG, Lichtsteiner S, Kim NW, Trager JB, Taylor RD, Carlos R, Andrews WH, et al. Reconstitution of human telomerase with the template RNA component hTR and the catalytic protein subunit hTRT. Nat Genet. 1997; 17:498-502.
3. Huang FW, Hodis E, Xu MJ, Kryukov GV, Chin L, Garraway LA. Highly recurrent TERT promoter mutations in human melanoma. Science. 2013; 339:957-9.
4. 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; 339:959-61.
5. 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 U S A. 2013; 110:6021-6.
6. 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.
7. Aalbers AM, Calado RT, Young NS, Zwaan CM, Wu C, Kajigaya S. Telomere length and telomerase complex mutations in pediatric acute myeloid leukemia. Leukemia. 2013; 27:1786-9.
8. Mocellin S, Verdi D, Pooley KA, Landi MT, Egan KM, Baird DM, Prescott J, De Vivo I, Nitti D. Telomerase reverse transcriptase locus polymorphisms and cancer risk: a field synopsis and meta-analysis. J Natl Cancer Inst. 2012; 104:840-854.
9. 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.
10. Andrew JR, Víctor Q, Miguel F, 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; 45:526-532.
11. Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, Pooley KA, Pritchard AL, Tiffen JC, Petljak M, Palmer JM, Symmons J, Johansson P, et al. POT1 loss-of-function variants predispose to familial melanoma. Nat Genet. 2014; 46:478-481.
12. Park JI, Venteicher AS, Hong JY, Choi J, Jun S, Shkreli M, Chang W, Meng Z, Cheung P, Ji H, McLaughlin M, Veenstra TD, Nusse R, et al. Telomerase modulates Wnt signaling by association with target gene chromatin. Nature. 2009; 460:66-72.
13. Indran IR, Hande MP, Pervaiz S. hTERT overexpression alleviates intracellular ROS production, imnproves mitochondrial function and inhibits ROS-mediated apoptosis in cancer cells. Cancer Res. 2011; 71:266-276.
14. Nitta E, Yamashita M, Hosokawa K, Xian M, Takubo K, Arai F, Nakada S, Suda T. Telomerase reverse transcriptase protects ATM deficient hematopoietic stem cells from ROS induced apoptosis through a telomere independent mechanism. Blood. 2011; 117:4169-4180.
15. 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-?B-dependent transcription. Nat Cell Biol. 2012; 14:1270-1281.
16. 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.
17. Calado RT, Regal JA, Kajigaya S, Young NS. Erosion of telomeric single-stranded overhang in patients with aplastic anemia carrying telomerase complex mutations. Eur J Clin Invest. 2009; 39:1025-1032.
18. Yan S, Han B, Wu Y, Zhou D, Zhao Y. Telomerase gene mutation screening and telomere overhang detection in Chinese patients with acute myeloid leukemia. Leuk Lymphoma. 2013; 54:1437-1441.
19. Felicetto F, Charles A S. Acute myeloid leukemia in adults. The Lancet. 2013; 381:484-495.
20. Iriyama N, Asou N, Miyazaki Y, Yamaguchi S, Sato S, Sakura T, Maeda T, Handa H, Takahashi M, Ohtake S, Hatta Y, Sakamaki H, Honda S, et al. Normal karyotype acute myeloid leukemia with the CD7+ CD15+ CD34+ HLA-DR + immunophenotype is a clinically distinct entity with a favorable outcome. Ann Hematol. 2014; 93:957-63.
21. Falini B, Mecucci C, Tiacci E, Alcalay M, Rosati R, Pasqualucci L, La Starza R, Diverio D, Colombo E, Santucci A, Bigerna B, Pacini R, Pucciarini A, et al. Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. N Engl J Med. 2005; 352:254-266.
22. Yamamoto Y, Kiyoi H, Nakano Y, Suzuki R, Kodera Y, Miyawaki S, Asou N, Kuriyama K, Yagasaki F, Shimazaki C, Akiyama H, Saito K, Nishimura M, et al. Activating mutation of D835 within the activation loop of FLT3 in human hematologic malignancies. Blood. 2001; 97:2434-2439.
23. Schnittger S, Schoch C, Dugas M, Kern W, Staib P, Wuchter C, Löffler H, Sauerland CM, Serve H, Büchner T, Haferlach T, Hiddemann W. Analysis of FLT3 length mutations in 1003 patients with acute myeloid leukemia: correlation to cytogenetics, FAB subtype, and prognosis in the AMLCG study and usefulness as a marker for the detection of minimal residual disease. Blood. 2002; 100:59-66.
24. Frohling S, Schlenk RF, Breitruck J, Benner A, Kreitmeier S, Tobis K, Döhner H, Döhner K. Prognostic significance of activating FLT3 mutations in younger adults (16 to 60 years) with acute myeloid leukemia and normal cytogenetics: a study of the AML Study Group Ulm. Blood. 2002; 100:4372-4380.
25. Wahlin A, Billstrom R, Bjor O, Ahlgren T, Hedenus M, Höglund M, Lindmark A, Markevärn B, Nilsson B, Sallerfors B, Brune M. Results of risk-adapted therapy in acute myeloid leukaemia. A long-term population-based follow-up study. European Journal of Haematology. 2009; 99-107.
26. Xiang-Mei W, Jiang L, Jing Y, Yao DM, Deng ZQ, Tang CY, Xiao GF, Yang L, Ma JC, Hu JB, Qian W, Qian J. Double CEBPA mutations are prognostically favorable in non-M3 acute myeloid leukemia patients with wildtype NPM1 and FLT3-ITD. Int J Clin Exp Pathol. 2014; 7:6832-6840.
27. Monzo M, Brunet S, Urbano-Ispizua A, Navarro A, Perea G, Esteve J, Artells R, Granell M, Berlanga J, Ribera JM, Bueno J, Llorente A, Guardia R, et al. Genomic polymorphisms provide prognostic information in intermediate-risk acute myeloblastic leukemia. Blood. 2006; 107:4871-4879.
28. Willander K, Falk IJ, Chaireti R, Paul E, Hermansson M, Gréen H, Lotfi K, Söderkvist P. Mutations in the isocitrate dehydrogenase 2 gene and IDH1 SNP 105C> T have a prognostic value in acute myeloid leukemia. Biomark Res. 2014; 2:18.
29. Ho PA, Kopecky KJ, Alonzo TA, Gerbing RB, Miller KL, Kuhn J, Zeng R, Ries RE, Raimondi SC, Hirsch BA, Oehler V, Hurwitz CA, Franklin JL, et al. Prognostic implications of the IDH1 synonymous SNP rs11554137 in pediatricand adult AML: a report from the Children's Oncology Group and SWOG. Blood. 2011; 118:4561-4566.
30. Wagner K, Damm F, Gohring G, Görlich K, Heuser M, Schäfer I, Ottmann O, Lübbert M, Heit W, Kanz L, Schlimok G, Raghavachar AA, Fiedler W, et al. Impact of IDH1 R132 mutations and an IDH1 single nucleotide polymorphism in cytogenetically normal acute myeloid leukemia: SNP rs11554137 is an adverse prognostic factor. Journal of Clinical Oncology. 2010; 28:2356-2364.
31. Damm F, Heuser M, Morgan M, Yun H, Grosshennig A, Göhring G, Schlegelberger B, Döhner K, Ottmann O, Lübbert M, Heit W, Kanz L, Schlimok G, et al. Single nucleotide polymorphism in the mutational hotspot of WT1 predicts a favorable outcome in patients with cytogenetically normal acute myeloid leukemia. Journal of Clinical Oncology. 2010; 28:578-585.
32. Zhong R, Liu L, Zou L, Zhu Y, Chen W, Zhu B, Shen N, Rui R, Long L, Ke J, Lu X, Zhang T, Zhang Y, et al. Genetic variations in TERT-CLPTM1L locus are associated with risk of lung cancer in Chinese population. Mol Carcinog. 2013; 52:118-126.
33. Shen J, Gammon MD, Wu HC, Terry MB, Wang Q, Bradshaw PT, Teitelbaum SL, Neugut AI, Santella RM. Multiple genetic variants in telomere pathway genes and breast cancer risk. Cancer Epidemiol Biomarkers Prev. 2010; 19:219-228.
34. Landi MT, Chatterjee N, Yu K, Goldin LR, Goldstein AM, Rotunno M, Mirabello L, Jacobs K, Wheeler W, Yeager M, Bergen AW, Li Q, Consonni D, et al. A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. Am J Hum Genet. 2009; 85:679-691.
35. Sheng X, Tong N, Tao G, Luo D, Wang M, Fang Y, Li J, Xu M, Zhang Z, Wu D. TERT polymorphisms modify the risk of acute lymphoblastic leukemia in Chinese children. Carcinogenesis. 2013; 34:228-235.
36. 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.
37. 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.
38. Aref S, El-Ghonemy MS, Abouzeid TE, El-Sabbagh AM, El-Baiomy MA. Telomerase reverse transcriptase (TERT) A1062T mutation as a prognostic factor in Egyptian patients with acute myeloid leukemia (AML). Med Oncol. 2014; 31:158.
39. Döhner H, Estey EH, Amadori S, Appelbaum FR, Büchner T, Burnett AK, Dombret H, Fenaux P, Grimwade D, Larson RA, Lo-Coco F, Naoe T, Niederwieser D, et al. Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet. Blood. 2010; 21:115:453-74.
40. Bruedigam C, Bagger FO, Heidel FH, Paine Kuhn C, Guignes S, Song A, Austin R, Vu T, Lee E, Riyat S, Moore AS, Lock RB, Bullinger L, et al. Telomerase Inhibition Effectively Targets Mouse and Human AML Stem Cells and Delays Relapse following Chemotherapy. Cell Stem Cell. 2014; 15:775-90.
41. Landskron G, De la Fuente M, Thuwajit P, Thuwajit C, Hermoso MA. Chronic Inflammation and Cytokines in the Tumor Microenvironment. J Immunol Res. 2014; ID 149185.
42. Hanahan D, Weinberg RA. Hallmarks of cancer: The next generation. Cell. 2011; 144:646-674.
43. Li YG, Mark A, Mark D, Marian TN. Therapeutic potential of cytokine and chemokine antagonists in cancer therapy. European Journal of Cancer. 2006; 42:793-802.
44. Wang C, Lu J, Wang Y, Bai S, Wang Y, Wang L, Sheng G. Combined effects of FLT3 and NF-?B selective inhibitors on acute myeloid leukemia in vivo. J Biochem Mol Toxicol. 2012; 26:35-43.
45. Gale RE, Green C, Allen C, Mead AJ, Burnett AK, Hills RK, Linch DC. The impact of FLT3 internal tandem duplication mutant level, number, size, and interaction with NPM1 mutations in a large cohort of young adult patients with acute myeloid leukemia. Blood. 2008; 111:2776-2784.
46. Thiede C, Steudel C, Mohr B, Schaich M, Schäkel U, Platzbecker U, Wermke M, Bornhäuser M, Ritter M, Neubauer A, Ehninger G, Illmer T. Analysis of FLT3-activating mutations in 979 patients with acute myelogenous leukemia: association with FAB subtypes and identification of subgroups with poor prognosis. Blood. 2002; 99:4326-4335.
47. 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-Oncology. 2014; 0:1-8.
48. Gao L, Thakur A, Liang Y, Zhang S, Wang T, Chen T, Meng J, Wang L, Wu F, Jin T, Li X, Liu JJ, Chen C, Chen M. Eur J Cancer Prev. Polymorphisms in the TERT gene are associated with lung cancer risk in the Chinese Han population. Eur J Cancer Prev. 2014; 23:497-501.
49. Yang J, Jiao S. Increased lung cancer risk associated with the TERT rs2736100 polymorphism: an updated meta-analysis. Tumour Biol. 2014; 35:5763-9.
50. Terry KL, Tworoger SS, Vitonis AF, Wong J, Titus-Ernstoff L, De Vivo I, Cramer DW. Telomere length and genetic variation in telomere maintenance genes in relation to ovarian cancer risk. Cancer Epidemiol Biomarkers Prev. 2012; 21:504-12.
51. Schmittgen TD, Livak KJ. Analyzing real-time PCR data by the comparative C(T) method. Nat Protoc. 2008; 3:1101-1108.