Thymidylate synthase polymorphisms are associated to therapeutic outcome of advanced non-small cell lung cancer patients treated with platinum-based chemotherapy

Molecular Biology Reports

Volumn 41, Issue 5, 2014, Pages 3349-3357

  Lima, Aurea ^a,b,c   Seabra, Vítor ^a   Martins, Sandra ^c   Coelho, Ana ^b,d   Araújo, Antonió ^b   Medeiros, Rui ^b,c,e  

^a UNIVERSITY INSTITUTE OF HEALTH SCIENCES IUCS   (Portugal)

^b PORTUGUESE ONCOLOGY INSTITUTE   (Portugal)

^c UNIVERSITY OF PORTO   (Portugal)

^d University of Porto   (Portugal)

^e Portuguese League Against Cancer (Norte)   (Portugal)

Author keywords

NSCLC; Platinum based chemotherapy; Polymorphisms; Therapeutic outcome; Thymidylate synthase

Indexed keywords

ANTINEOPLASTIC AGENT; PLATINUM; THYMIDYLATE SYNTHASE;

AGED; ALLELE; CANCER STAGING; CARCINOMA, NON-SMALL-CELL LUNG; ENHANCER REGION; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENETIC POLYMORPHISM; GENETICS; GENOTYPE; HUMAN; LUNG NEOPLASMS; MALE; MIDDLE AGED; MORTALITY; PATHOLOGY; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; ALLELES; ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; CARCINOMA, NON-SMALL-CELL LUNG; ENHANCER ELEMENTS, GENETIC; FEMALE; GENOTYPE; HUMANS; LINKAGE DISEQUILIBRIUM; LUNG NEOPLASMS; MALE; MIDDLE AGED; NEOPLASM STAGING; PLATINUM; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; THYMIDYLATE SYNTHASE;

EID: 84905716777     PISSN: 03014851     EISSN: 15734978     Source Type: Journal    
DOI: 10.1007/s11033-014-3197-3     Document Type: Article

References (45)

1. Alberg AJ, Brock MV, Samet JM (2005) Epidemiology of lungcancer: looking to the future. J Clin Oncol 23(14):3175-3185. doi:10.1200/JCO.2005.10.462
2. Beane J, Spira A, Lenburg ME (2009) Clinical impact of high-throughputgene expression studies in lung cancer. J Thorac Oncol 4(1):109-118. doi:10.1097/JTO.0b013e31819151f8
3. National Comprehensive Cancer Network (2012) NCCN clinicalpractice guidelines in oncology (NCCN guidelines) - non-small cell lung cancer. Version 2. http://www.tri-kobe.org/nccn/guideline/lung/english/small.pdf. Accessed 29 April 2013
4. Watters JW, McLeod HL (2003) Cancer pharmacogenomics:current and future applications. Biochim Biophys Acta1603(2):99-111. doi:10.1016/S0304-419X(03) 00003-9
5. Lima A, Azevedo R, Sousa H, Seabra V, Medeiros R (2013)Current approaches for TYMS polymorphisms and their importancein molecular epidemiology and pharmacogenetics. Pharmacogenomics14(11):1337-1351. doi:10.2217/pgs.13.118
6. Carreras CW, Santi DV (1995) The catalytic mechanism andstructure of thymidylate synthase. Annu Rev Biochem 64:721-762. doi:10.1146/annurev.bi.64. 070195.003445
7. Horie N, Aiba H, Oguro K, Hojo H, Takeishi K (1995) Functional analysis and DNA polymorphism of the tandemly repeated sequences in the 5′-terminal regulatory region of the human gene for thymidylate synthase. Cell Struct Funct 20(3):191-197
8. Danenberg PV (1977) Thymidylate synthetase - a target enzyme in cancer chemotherapy. Biochim Biophys Acta 473(2):73-92. doi:10.1016/0304-419X(77)90001- 4
9. Marsh S, McKay JA, Cassidy J, McLeod HL (2001) Polymorphismin the thymidylate synthase promoter enhancer region incolorectal cancer. Int J Oncol 19(2):383-386
10. Kaneda S, Takeishi K, Ayusawa D, Shimizu K, Seno T, Altman S (1987) Role in translation of a triple tandemly repeated sequence in the 5′-untranslated region of human thymidylate synthase mRNA. Nucleic Acids Res 15(3):1259-1270. doi:10.1093/nar/15.3.1259 (Pubitemid 17012904)
11. Kawakami K, Salonga D, Park JM, Danenberg KD, Uetake H,Brabender J, Omura K, Watanabe G, Danenberg PV (2001) Different lengths of a polymorphic repeat sequence in the thymidylatesynthase gene affect translational efficiency but not itsgene expression. Clin Cancer Res 7(12):4096-4101 (Pubitemid 34044633)
12. Pullarkat ST, Stoehlmacher J, Ghaderi V, Xiong YP, Ingles SA,Sherrod A, Warren R, Tsao-Wei D, Groshen S, Lenz HJ (2001) Thymidylate synthase gene polymorphism determines responseand toxicity of 5-FU chemotherapy. Pharmacogenomics J1(1):65-70 (Pubitemid 33757985)
13. Kawakami K, Omura K, Kanehira E, Watanabe Y (1999) Polymorphictandem repeats in the thymidylate synthase gene isassociated with its protein expression in human gastrointestinalcancers. Anticancer Res 19(4B):3249-3252 (Pubitemid 30042617)
14. Kaneda S, Nalbantoglu J, Takeishi K, Shimizu K, Gotoh O, Seno T, Ayusawa D (1990) Structural and functional analysis of the humanthymidylate synthase gene. J Biol Chem 265(33):20277-20284 (Pubitemid 120014007)
15. Mandola MV, Stoehlmacher J, Muller-Weeks S, Cesarone G, Yu MC, Lenz HJ, Ladner RD (2003) A novel single nucleotide polymorphism within the 5′ tandem repeat polymorphism of the thymidylate synthase gene abolishes USF-1 binding and alters transcriptional activity. Cancer Res 63(11):2898-2904 (Pubitemid 36667162)
16. Kawakami K, Watanabe G (2003) Identification and functionalanalysis of single nucleotide polymorphism in the tandem repeat sequence of thymidylate synthase gene. Cancer Res 63(18):6004-6007 (Pubitemid 37187503)
17. Ulrich CM, Bigler J, Velicer CM, Greene EA, Farin FM, Potter JD (2000) Searching expressed sequence tag databases: discovery and confirmation of a common polymorphism in the thymidylatesynthase gene. Cancer Epidemiol Biomark Prev 9(12):1381-1385 (Pubitemid 32044809)
18. Lecomte T, Ferraz JM, Zinzindohoue F, Loriot MA, Tregouet DA, Landi B, Berger A, Cugnenc PH, Jian R, Beaune P, Laurent-Puig P (2004) Thymidylate synthase gene polymorphism predictstoxicity in colorectal cancer patients receiving 5-fluorouracil-based chemotherapy. Clin Cancer Res 10(17):5880-5888. doi:10.1158/1078-0432 (Pubitemid 39180969)
19. Dotor E, Cuatrecases M, Martinez-Iniesta M, Navarro M, Vilardell F, Guino E, Pareja L, Figueras A, Mollevi DG, Serrano T, de Oca J, Peinado MA, Moreno V, Germa JR, Capella G, Villanueva A (2006) Tumor thymidylate synthase 1494del6 genotype as a prognostic factor in colorectal cancer patients receiving fluorouracil-based adjuvant treatment. J Clin Oncol 24(10):1603-1611. doi:10.1200/JCO.2005.03.5253 (Pubitemid 46638784)
20. Mountain CF (1986) A new international staging system for lungcancer. Chest 89(4 Suppl):225S-233S. doi:10.1378/chest.89.4-Supplement.225S
21. Mountain CF (1997) Revisions in the international system forstaging lung cancer. Chest 111(6):1710-1717
22. Excoffier L, Laval G, Schneider S (2005) Arlequin (version 3.0): an integrated software package for population genetics dataanalysis. Evol Bioinform Online 1:47-50. doi:10.4137/EBO.S0
23. Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA(2002) Score tests for association between traits and haplotypeswhen linkage phase is ambiguous. Am J Hum Genet 70(2):425-434. doi:10.1086/338688 (Pubitemid 34112296)
24. Lurje G, Zhang W, Yang D, Groshen S, Hendifar AE, Husain H,Nagashima F, Chang HM, Fazzone W, Ladner RD, Pohl A, Ning Y, Iqbal S, El-Khoueiry A, Lenz HJ (2008) Thymidylate synthasehaplotype is associated with tumor recurrence in stage II andstage III colon cancer. Pharmacogenet Genomics 18(2):161-168. doi:10.1097/FPC.0b013e3282f4aea6
25. Stephens M, Donnelly P (2003) A comparison of bayesianmethods for haplotype reconstruction from population genotypedata. Am J Hum Genet 73(5):1162-1169. doi:10.1086/379378 (Pubitemid 37414228)
26. Johnston PG, Lenz HJ, Leichman CG, Danenberg KD, Allegra CJ, Danenberg PV, Leichman L (1995) Thymidylate synthasegene and protein expression correlate and are associated withresponse to 5-fluorouracil in human colorectal and gastric tumors. Cancer Res 55(7):1407-1412
27. Lenz HJ, Hayashi K, Salonga D, Danenberg KD, Danenberg PV,Metzger R, Banerjee D, Bertino JR, Groshen S, Leichman LP,Leichman CG (1998) p53 Point mutations and thymidylate synthase messenger RNA levels in disseminated colorectal cancer: an analysis of response and survival. Clin Cancer Res 4(5):1243-1250 (Pubitemid 28213336)
28. Edler D, Glimelius B, Hallstrom M, Jakobsen A, Johnston PG,Magnusson I, Ragnhammar P, Blomgren H (2002) Thymidylatesynthase expression in colorectal cancer: a prognostic and predictivemarker of benefit from adjuvant fluorouracil-based chemotherapy. J Clin Oncol 20(7):1721-1728 (Pubitemid 34273259)
29. Kawakami K, Ishida Y, Danenberg KD, Omura K, Watanabe G, Danenberg PV (2002) Functional polymorphism of the thymidylatesynthase gene in colorectal cancer accompanied by frequentloss of heterozygosity. Jpn J Cancer Res 93(11):1221-1229 (Pubitemid 36032985)
30. DiPaolo A, Chu E (2004) The role of thymidylate synthase as amolecular biomarker. Clin Cancer Res 10(2):411-412. doi:10.1158/1078-0432 (Pubitemid 38173975)
31. Kristensen MH, Pedersen PL, Melsen GV, Ellehauge J, Mejer J(2010) Variants in the dihydropyrimidine dehydrogenase, methylenetetrahydrofolate reductase and thymidylate synthase genes predict early toxicity of 5-fluorouracil in colorectal cancerpatients. J Int Med Res 38(3):870-883. doi:10.1177/147323001003800313
32. Brody JR, Hucl T, Gallmeier E, Winter JM, Kern SE, Murphy KM (2006) Genomic copy number changes affecting the thymidylatesynthase (TYMS) gene in cancer: a model for patient classification to aid fluoropyrimidine therapy. Cancer Res 66(19):9369-9373. doi:10.1158/0008-5472.CAN-06-2165 (Pubitemid 44623631)
33. Etienne MC, Chazal M, Laurent-Puig P, Magne N, Rosty C,Formento JL, Francoual M, Formento P, Renee N, Chamorey E,Bourgeon A, Seitz JF, Delpero JR, Letoublon C, Pezet D, Milano G (2002) Prognostic value of tumoral thymidylate synthase and p53 in metastatic colorectal cancer patients receiving fluorouracil-based chemotherapy: phenotypic and genotypic analyses. J Clin Oncol 20(12):2832-2843 (Pubitemid 34651512)
34. Uchida K, Hayashi K, Kawakami K, Schneider S, Yochim JM,Kuramochi H, Takasaki K, Danenberg KD, Danenberg PV (2004) Loss of heterozygosity at the thymidylate synthase (TS) locus on chromosome 18 affects tumor response and survival in individual sheterozygous for a 28-bp polymorphism in the TS gene. Clin Cancer Res 10(2):433-439. doi:10.1158/1078-0432.CCR-0200-03 (Pubitemid 38173979)
35. Wang TL, Diaz LA Jr, Romans K, Bardelli A, Saha S, Galizia G,Choti M, Donehower R, Parmigiani G, Shih Ie M, Iacobuzio-Donahue C, Kinzler KW, Vogelstein B, Lengauer C, Velculescu VE (2004) Digital karyotyping identifies thymidylate synthaseamplification as a mechanism of resistance to 5-fluorouracil inmetastatic colorectal cancer patients. Proc Natl Acad Sci USA 101(9):3089-3094. doi:10.1073/pnas.0308716101 (Pubitemid 38327739)
36. Ooyama A, Okayama Y, Takechi T, Sugimoto Y, Oka T, Fukushima M (2007) Genome-wide screening of loci associated with drug resistance to 5-fluorouracil-based drugs. Cancer Sci98(4):577-583. doi:10.1111/j.1349-7006. 2007.00424.x (Pubitemid 46562750)
37. Jakobsen A, Nielsen JN, Gyldenkerne N, Lindeberg J (2005)Thymidylate synthase and methylenetetrahydrofolate reductasegene polymorphism in normal tissue as predictors of fluorouracilsensitivity. J Clin Oncol 23(7):1365-1369. doi:10.1200/JCO.2005.06.219
38. Li WJ, Jiang H, Fang XJ, Ye HL, Liu MH, Liu YW, Chen Q, Zhang L, Zhang JY, Yuan CL, Zhang QY (2013) Polymorphisms in thymidylatesynthase and reduced folate carrier (SLC19A1) genespredict survival outcome in advanced non-small cell lung cancerpatients treated with pemetrexed-based chemotherapy. Oncol Lett5(4):1165-1170. doi:10.3892/ol.2013.1175ol-05-04-1165
39. Wang X, Wang Y, Cheng J, Ha M (2013) Association of thymidylate synthase gene 3′-untranslated region polymorphism with sensitivity of non-small cell lung cancer to pemetrexed treatment: TS gene polymorphism and pemetrexed sensitivity in NSCLC. J Biomed Sci 20:5. doi:10.1186/1423-0127-20-51423-0127-20- 5
40. Mandola MV, Stoehlmacher J, Zhang W, Groshen S, Yu MC,Iqbal S, Lenz HJ, Ladner RD (2004) A 6 bp polymorphism in thethymidylate synthase gene causes message instability and isassociated with decreased intratumoral TS mRNA levels. Pharmacogenetics 14(5):319-327 (Pubitemid 38638919)
41. Merkelbach-Bruse S, Hans V, Mathiak M, Sanguedolce R,Alessandro R, Ruschoff J, Buttner R, Houshdaran F, Gullotti L(2004) Associations between polymorphisms in the thymidylatesynthase gene, the expression of thymidylate synthase mRNA and the microsatellite instability phenotype of colorectal cancer. Oncol Rep 11(4):839-843
42. Ulrich CM, Bigler J, Bostick R, Fosdick L, Potter JD (2002)Thymidylate synthase promoter polymorphism, interaction withfolate intake, and risk of colorectal adenomas. Cancer Res62(12):3361-3364 (Pubitemid 34651378)
43. Graziano F, Kawakami K, Watanabe G, Ruzzo A, Humar B,Santini D, Catalano V, Ficarelli R, Merriman T, Panunzi S, Testa E, Cascinu S, Bearzi I, Tonini G, Magnani M (2004) Associationof thymidylate synthase polymorphisms with gastric cancer susceptibility. Int J Cancer 112(6):1010-1014. doi:10.1002/ijc.20489 (Pubitemid 39507007)
44. Kawakami K, Graziano F, Watanabe G, Ruzzo A, Santini D,Catalano V, Bisonni R, Arduini F, Bearzi I, Cascinu S, Muretto P,Perrone G, Rabitti C, Giustini L, Tonini G, Pizzagalli F, Magnani M (2005) Prognostic role of thymidylate synthase polymorphismsin gastric cancer patients treated with surgery and adjuvant chemotherapy. Clin Cancer Res 11(10):3778-3783. doi:10.1158/1078-0432.CCR-04-2428 (Pubitemid 40685596)
45. Fernandez-Contreras ME, Sanchez-Hernandez JJ, Gonzalez E, Herraez B, Dominguez I, Lozano M, Garcia De Paredes ML, Munoz A, Gamallo C (2009) Combination of polymorphisms within 5′ and 3′ untranslated regions of thymidylate synthase gene modulates survival in 5 fluorouracil-treated colorectal cancer patients. Int J Oncol 34(1):219-229. doi:10.3892/ijo-00000144