Comparative pharmacogenetic analysis of risk polymorphisms in Caucasian and Vietnamese children with acute lymphoblastic leukemia: Prediction of therapeutic outcome?

British Journal of Clinical Pharmacology

Volumn 79, Issue 3, 2015, Pages 429-440

  Vu Hoang, Phuong Thu ^a,b,c,d   Ambroise, Jérôme ^a   Dekairelle, Anne France ^a   Durant, Jean François ^a   Butoescu, Valentina ^a   Dang Chi, Vu Luan ^c,d   Huynh, Nghia ^d   Nguyen, Tan Binh ^c   Robert, Annie ^a   Vermylen, Christiane ^b   Gala, Jean Luc ^a,e  

^a UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^b CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^c Department of Biochemistry and Molecular Biology   (Viet Nam)

^d Blood Transfusion and Hematology Center   (Viet Nam)

^e Defence Laboratories Department   (Belgium)

Author keywords

Caucasian; Leukemia; Pharmacogenetics; Single nucleotide polymorphisms; Vietnamese

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); CYCLIN D1; DNA; FOLINATE CALCIUM; GAMMA GLUTAMYL HYDROLASE; INORGANIC PYROPHOSPHATASE; INOSINE TRIPHOSPHATE PYROPHOSPHATASE; MERCAPTOPURINE; METHOTREXATE; RNA; THIOPURINE METHYLTRANSFERASE; THYMIDYLATE SYNTHASE; UNCLASSIFIED DRUG; ANTINEOPLASTIC AGENT;

ACCURACY; ACUTE LYMPHOBLASTIC LEUKEMIA; ADOLESCENT; ADULT; ARTICLE; CAUCASIAN; CHILD; COMPARATIVE STUDY; DNA ISOLATION; DRUG MEGADOSE; DRUG WITHDRAWAL; ETHNIC DIFFERENCE; ETHNIC OR RACIAL ASPECTS; GENE AMPLIFICATION; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; LOADING DRUG DOSE; MAJOR CLINICAL STUDY; PHARMACOGENETICS; PREDICTION; PRIORITY JOURNAL; PROMOTER REGION; PYROSEQUENCING; REAL TIME POLYMERASE CHAIN REACTION; RECURRENCE FREE SURVIVAL; RELAPSE; RNA ISOLATION; TREATMENT OUTCOME; VIETNAMESE; ASIAN CONTINENTAL ANCESTRY GROUP; DISEASE FREE SURVIVAL; ENZYMOLOGY; GENETICS; INFANT; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; PREDICTIVE VALUE; PRESCHOOL CHILD; PROPORTIONAL HAZARDS MODEL; YOUNG ADULT;

ADOLESCENT; ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; DISEASE-FREE SURVIVAL; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; HUMANS; INFANT; PHARMACOGENETICS; POLYMORPHISM, GENETIC; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; PREDICTIVE VALUE OF TESTS; PROPORTIONAL HAZARDS MODELS; YOUNG ADULT;

EID: 84930003969     PISSN: 03065251     EISSN: 13652125     Source Type: Journal    
DOI: 10.1111/bcp.12481     Document Type: Article

References (67)

1. Jemal A, Siegel R, Xu J, Ward E,. Cancer statistics, 2010. CA Cancer J Clin 2010; 60: 277-300.
2. Cheok MH, Evans WE,. Acute lymphoblastic leukaemia: a model for the pharmacogenomics of cancer therapy. Nat Rev Cancer 2006; 6: 117-129.
3. Kager L, Evans WE,. Pharmacogenomics of acute lymphoblastic leukemia. Curr Opin Hematol 2006; 13: 260-265.
4. Adam de Beaumais T, Jacqz-Aigrain E,. Pharmacogenetic determinants of mercaptopurine disposition in children with acute lymphoblastic leukemia. Eur J Clin Pharmacol 2012; 68: 1233-1242.
5. Evans WE, Relling MV,. Moving towards individualized medicine with pharmacogenomics. Nature 2004; 429: 464-468.
6. Pui CH, Robison LL, Look AT,. Acute lymphoblastic leukaemia. Lancet 2008; 371: 1030-1043.
7. Stanulla M, Schaeffeler E, Flohr T, Cario G, Schrauder A, Zimmermann M, Welte K, Ludwig WD, Bartram CR, Zanger UM, Eichelbaum M, Schrappe M, Schwab M,. Thiopurine methyltransferase (TPMT) genotype and early treatment response to mercaptopurine in childhood acute lymphoblastic leukemia. JAMA 2005; 293: 1485-1489.
8. Aplenc R, Thompson J, Han P, La M, Zhao H, Lange B, Rebbeck T,. Methylenetetrahydrofolate reductase polymorphisms and therapy response in pediatric acute lymphoblastic leukemia. Cancer Res 2005; 65: 2482-2487.
9. Rocha JC, Cheng C, Liu W, Kishi S, Das S, Cook EH, Sandlund JT, Rubnitz J, Ribeiro R, Campana D, Pui CH, Evans WE, Relling MV,. Pharmacogenetics of outcome in children with acute lymphoblastic leukemia. Blood 2005; 105: 4752-4758.
10. Hou X, Wang S, Zhou Y, Xu Z, Zou Y, Zhu X, Han M, Pang T, Han ZC,. Cyclin D1 gene polymorphism and susceptibility to childhood acute lymphoblastic leukemia in a Chinese population. Int J Hematol 2005; 82: 206-209.
11. Bedewy AM, Mostafa MH, Saad AA, El-Maghraby SM, Bedewy MM, Hilal AM, Kandil LS,. Association of cyclin D1 A870G polymorphism with two malignancies: acute lymphoblastic leukemia and breast cancer. J BUON 2013; 18: 227-238.
12. Costea I, Moghrabi A, Krajinovic M,. The influence of cyclin D1 (CCND1) 870A>G polymorphism and CCND1-thymidylate synthase (TS) gene-gene interaction on the outcome of childhood acute lymphoblastic leukaemia. Pharmacogenetics 2003; 13: 577-580.
13. Costea I, Moghrabi A, Laverdiere C, Graziani A, Krajinovic M,. Folate cycle gene variants and chemotherapy toxicity in pediatric patients with acute lymphoblastic leukemia. Haematologica 2006; 91: 1113-1116.
14. Onay UV, Aaltonen K, Briollais L, Knight JA, Pabalan N, Kilpivaara O, Andrulis IL, Blomqvist C, Nevanlinna H, Ozcelik H,. Combined effect of CCND1 and COMT polymorphisms and increased breast cancer risk. BMC Cancer 2008; 8: 6.
15. Pabalan N, Bapat B, Sung L, Jarjanazi H, Francisco-Pabalan O, Ozcelik H,. Cyclin D1 Pro241Pro (CCND1-G870A) polymorphism is associated with increased cancer risk in human populations: a meta-analysis. Cancer Epidemiol Biomarkers Prev. 2008; 17: 2773-2781.
16. Yang YL, Lin DT, Chang SK, Lin SR, Lin SW, Chiou RJ, Yen CT, Lin KH, Jou ST, Lu MY, Chang HH, Chang WH, Lin KS, Hu CY,. Pharmacogenomic variations in treatment protocols for childhood acute lymphoblastic leukemia. Pediatr Blood Cancer 2010; 54: 206-211.
17. Pakakasama S, Phaitchichinda P, Kajanaschumpol S, Udomsubpayakul U, Apibal S, Hongeng S,. Cyclin DI genetic polymorphism and clinical presentation of childhood acute lymphoblastic leukemia. Australasian J Cancer 2009; 8: 191-194.
18. Panetta JC, Wall A, Pui CH, Relling MV, Evans WE,. Methotrexate intracellular disposition in acute lymphoblastic leukemia: a mathematical model of gamma-glutamyl hydrolase activity. Clin Cancer Res 2002; 8: 2423-2429.
19. Rhee MS, Lindau-Shepard B, Chave KJ, Galivan J, Ryan TJ,. Characterization of human cellular gamma-glutamyl hydrolase. Mol Pharmacol 1998; 53: 1040-1046.
20. Hayashi H, Fujimaki C, Inoue K, Suzuki T, Itoh K,. Genetic polymorphism of C452T (T127I) in human gamma-glutamyl hydrolase in a Japanese population. Biol Pharm Bull 2007; 30: 839-841.
21. Rots MG, Pieters R, Peters GJ, Noordhuis P, Van Zantwijk CH, Henze G, Janka-Schaub GE, Veerman AJ, Jansen G,. Methotrexate resistance in relapsed childhood acute lymphoblastic leukaemia. Br J Haematol 2000; 109: 629-634.
22. Tiseo M, Giovannetti E, Tibaldi C, Camerini A, Di Costanzo F, Barbieri F, Burgers JA, Vincent A, Peters GJ, Smit EF, Ardizzoni A,. Pharmacogenetic study of patients with advanced non-small cell lung cancer (NSCLC) treated with second-line pemetrexed or pemetrexed-carboplatin. Lung Cancer 2012; 78: 92-99.
23. Organista-Nava J, Gomez-Gomez Y, Saavedra-Herrera MV, Rivera-Ramirez AB, Teran-Porcayo MA, Alarcon-Romero Ldel C, Illades-Aguiar B, Leyva-Vazquez MA,. Polymorphisms of the gamma-glutamyl hydrolase gene and risk of relapse to acute lymphoblastic leukemia in Mexico. Leuk Res 2010; 34: 728-732.
24. Giovannetti E, Ugrasena DG, Supriyadi E, Vroling L, Azzarello A, de Lange D, Peters GJ, Veerman AJ, Cloos J,. Methylenetetrahydrofolate reductase (MTHFR) C677T and thymidylate synthase promoter (TSER) polymorphisms in Indonesian children with and without leukemia. Leuk Res 2008; 32: 19-24.
25. Robien K, Schubert MM, Chay T, Bigler J, Storb R, Yasui Y, Potter JD, Ulrich CM,. Methylenetetrahydrofolate reductase and thymidylate synthase genotypes modify oral mucositis severity following hematopoietic stem cell transplantation. Bone Marrow Transplant 2006; 37: 799-800.
26. Yang L, Hu X, Xu L,. Impact of methylenetetrahydrofolate reductase (MTHFR) polymorphisms on methotrexate-induced toxicities in acute lymphoblastic leukemia: a meta-analysis. Tumour Biol 2012; 33: 1445-1454.
27. Krajinovic M, Lemieux-Blanchard E, Chiasson S, Primeau M, Costea I, Moghrabi A,. Role of polymorphisms in MTHFR and MTHFD1 genes in the outcome of childhood acute lymphoblastic leukemia. Pharmacogenomics J 2004; 4: 66-72.
28. Lopez-Lopez E, Martin-Guerrero I, Ballesteros J, Garcia-Orad A,. A systematic review and meta-analysis of MTHFR polymorphisms in methotrexate toxicity prediction in pediatric acute lymphoblastic leukemia. Pharmacogenomics J 2013; 13: 498-506.
29. He HR, Chen SY, You HS, Hu SS, Sun JY, Dong YL, Lu J,. Association between methylenetetrahydrofolate reductase polymorphisms and the relapse of acute lymphoblastic leukemia: a meta-analysis. Pharmacogenomics J 2014. doi: 10.1038/tpj.2014.10.
30. Ojha RP, Gurney JG,. Methylenetetrahydrofolate reductase C677T and overall survival in pediatric acute lymphoblastic leukemia: a systematic review. Leuk Lymphoma 2014; 55: 67-73.
31. de Jonge R, Hooijberg JH, van Zelst BD, Jansen G, van Zantwijk CH, Kaspers GJ, Peters GJ, Ravindranath Y, Pieters R, Lindemans J,. Effect of polymorphisms in folate-related genes on in vitro methotrexate sensitivity in pediatric acute lymphoblastic leukemia. Blood 2005; 106: 717-720.
32. Paluku They-They THK, Mazabraud A, Nadifi S,. Frequency of C677T polymorphism of methylene tetrahyrofolate reductase (MTHFR) gene among Berber and Arabic Moroccan populations. Antropo 2009; 20: 11-17.
33. Sirachainan N, Wongruangsri S, Kajanachumpol S, Pakakasama S, Visudtibhan A, Nuchprayoon I, Lusawat A, Phudhicharoenrat S, Shuangshoti S, Hongeng S,. Folate pathway genetic polymorphisms and susceptibility of central nervous system tumors in Thai children. Cancer Detect Prev 2008; 32: 72-78.
34. Radparvar S, Houghton PJ, Houghton JA,. Characteristics of thymidylate synthase purified from a human colon adenocarcinoma. Arch Biochem Biophys 1988; 260: 342-350.
35. Krajinovic M, Costea I, Chiasson S,. Polymorphism of the thymidylate synthase gene and outcome of acute lymphoblastic leukaemia. Lancet 2002; 359: 1033-1034.
36. Welsh SJ, Titley J, Brunton L, Valenti M, Monaghan P, Jackman AL, Aherne GW,. Comparison of thymidylate synthase (TS) protein up-regulation after exposure to TS inhibitors in normal and tumor cell lines and tissues. Clin Cancer Res 2000; 6: 2538-2546.
37. Marsh S, Ameyaw MM, Githang'a J, Indalo A, Ofori-Adjei D, McLeod HL,. Novel thymidylate synthase enhancer region alleles in African populations. Hum Mutat 2000; 16: 528.
38. Weinshilboum RM, Sladek SL,. Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am J Hum Genet 1980; 32: 651-662.
39. McLeod HL, Krynetski EY, Wilimas JA, Evans WE,. Higher activity of polymorphic thiopurine S-methyltransferase in erythrocytes from neonates compared to adults. Pharmacogenetics 1995; 5: 281-286.
40. Krynetski EY, Tai HL, Yates CR, Fessing MY, Loennechen T, Schuetz JD, Relling MV, Evans WE,. Genetic polymorphism of thiopurine S-methyltransferase: clinical importance and molecular mechanisms. Pharmacogenetics 1996; 6: 279-290.
41. Lennard L, Lilleyman JS, Van Loon J, Weinshilboum RM,. Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukaemia. Lancet 1990; 336: 225-229.
42. Lennard L, Gibson BE, Nicole T, Lilleyman JS,. Congenital thiopurine methyltransferase deficiency and 6-mercaptopurine toxicity during treatment for acute lymphoblastic leukaemia. Arch Dis Child 1993; 69: 577-579.
43. Evans WE, Horner M, Chu YQ, Kalwinsky D, Roberts WM,. Altered mercaptopurine metabolism, toxic effects, and dosage requirement in a thiopurine methyltransferase-deficient child with acute lymphocytic leukemia. J Pediatr 1991; 119: 985-989.
44. Lilleyman JS, Lennard L,. Mercaptopurine metabolism and risk of relapse in childhood lymphoblastic leukaemia. Lancet 1994; 343: 1188-1190.
45. Szumlanski C, Otterness D, Her C, Lee D, Brandriff B, Kelsell D, Spurr N, Lennard L, Wieben E, Weinshilboum R,. Thiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphism. DNA Cell Biol 1996; 15: 17-30.
46. Yates CR, Krynetski EY, Loennechen T, Fessing MY, Tai HL, Pui CH, Relling MV, Evans WE,. Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. Ann Intern Med 1997; 126: 608-614.
47. Otterness D, Szumlanski C, Lennard L, Klemetsdal B, Aarbakke J, Park-Hah JO, Iven H, Schmiegelow K, Branum E, O'Brien J, Weinshilboum R,. Human thiopurine methyltransferase pharmacogenetics: gene sequence polymorphisms. Clin Pharmacol Ther 1997; 62: 60-73.
48. Ameyaw MM, Collie-Duguid ES, Powrie RH, Ofori-Adjei D, McLeod HL,. Thiopurine methyltransferase alleles in British and Ghanaian populations. Hum Mol Genet 1999; 8: 367-370.
49. Tumer TB, Ulusoy G, Adali O, Sahin G, Gozdasoglu S, Arinc E,. The low frequency of defective TPMT alleles in Turkish population: a study on pediatric patients with acute lymphoblastic leukemia. Am J Hematol 2007; 82: 906-910.
50. Zhou S,. Clinical pharmacogenomics of thiopurine S-methyltransferase. Curr Clin Pharmacol 2006; 1: 119-128.
51. Sasaki T, Goto E, Konno Y, Hiratsuka M, Mizugaki M,. Three novel single nucleotide polymorphisms of the human thiopurine S-methyltransferase gene in Japanese individuals. Drug Metab Pharmacokinet 2006; 21: 332-336.
52. Spire-Vayron de la Moureyre C, Debuysere H, Mastain B, Vinner E, Marez D, Lo Guidice JM, Chevalier D, Brique S, Motte K, Colombel JF, Turck D, Noel C, Flipo RM, Pol A, Lhermitte M, Lafitte JJ, Libersa C, Broly F,. Genotypic and phenotypic analysis of the polymorphic thiopurine S-methyltransferase gene (TPMT) in a European population. Br J Pharmacol 1998; 125: 879-887.
53. Adam de Beaumais T, Fakhoury M, Medard Y, Azougagh S, Zhang D, Yakouben K, Jacqz-Aigrain E,. Determinants of mercaptopurine toxicity in paediatric acute lymphoblastic leukemia maintenance therapy. Br J Clin Pharmacol 2011; 71: 575-584.
54. Stocco G, Cheok MH, Crews KR, Dervieux T, French D, Pei D, Yang W, Cheng C, Pui CH, Relling MV, Evans WE,. Genetic polymorphism of inosine triphosphate pyrophosphatase is a determinant of mercaptopurine metabolism and toxicity during treatment for acute lymphoblastic leukemia. Clin Pharmacol Ther 2009; 85: 164-172.
55. Stocco G, Crews KR, Evans WE,. Genetic polymorphism of inosine-triphosphate-pyrophosphatase influences mercaptopurine metabolism and toxicity during treatment of acute lymphoblastic leukemia individualized for thiopurine-S-methyl-transferase status. Expert Opin Drug Saf 2010; 9: 23-37.
56. Marsh S, Van Booven DJ,. The increasing complexity of mercaptopurine pharmacogenomics. Clin Pharmacol Ther 2009; 85: 139-141.
57. Kim H, Kang HJ, Kim HJ, Jang MK, Kim NH, Oh Y, Han BD, Choi JY, Kim CW, Lee JW, Park KD, Shin HY, Ahn HS,. Pharmacogenetic analysis of pediatric patients with acute lymphoblastic leukemia: a possible association between survival rate and ITPA polymorphism. PLoS ONE 2012; 7: e45558.
58. Farfan MJ, Salas C, Canales C, Silva F, Villarroel M, Kopp K, Torres JP, Santolaya ME, Morales J,. Prevalence of TPMT and ITPA gene polymorphisms and effect on mercaptopurine dosage in Chilean children with acute lymphoblastic leukemia. BMC Cancer 2014; 14: 299.
59. Vu Hoang PT, Ambroise J, Dang Chi VL, Dekairelle AF, Dupont S, Huynh N, Nguyen TB, Robert A, Gala JL, Vermylen C,. Comparison of long-term outcome between White and Vietnamese children treated for acute lymphoblastic leukemia according to the FRALLE 2000 Protocol. J Pediatr Hematol Oncol 2013. doi: 10.1097/MPH.0000000000000062.
60. Louis M, Dekairelle AF, Gala JL,. Rapid combined genotyping of factor V, prothrombin and methylenetetrahydrofolate reductase single nucleotide polymorphisms using minor groove binding DNA oligonucleotides (MGB probes) and real-time polymerase chain reaction. Clin Chem Lab Med 2004; 42: 1364-1369.
61. Dewit O, Moreels T, Baert F, Peeters H, Reenaers C, de Vos M, Van Hootegem P, Muls V, Veereman G, Mana F, Van Outryve M, Holvoet J, Naegels S, Piessevaux H, Horsmans Y, Gala JL,. Limitations of extensive TPMT genotyping in the management of azathioprine-induced myelosuppression in IBD patients. Clin Biochem 2011; 44: 1062-1066.
62. Vittinghoff EGDV, Shiboski SC, McCulloch CE,. Regression Methods in Biostatistics: Linear, Logistic, Survival, and Repeated Measures Models. New York: Springer, 2012.
63. Heagerty PJ, Lumley T, Pepe MS,. Time-dependent ROC curves for censored survival data and a diagnostic marker. Biometrics 2000; 56: 337-344.
64. R Development Core Team. R: a language and environment for statistical computing, 2005. Available at http://www.R-project.org (last accessed 27 August 2014).
65. Chen X, Wen F, Yue L, Li C,. Genetic polymorphism of gamma-glutamyl hydrolase in Chinese acute leukemia children and identification of a novel double nonsynonymous mutation. Pediatr Hematol Oncol 2012; 29: 303-312.
66. Lauten M, Asgedom G, Welte K, Schrappe M, Stanulla M,. Thymidylate synthase gene polymorphism and its association with relapse in childhood B-cell precursor acute lymphoblastic leukemia. Haematologica 2003; 88: 353-354.
67. Lu Y, Kham YKS, Hany A, Tan AM, Quah TC, Juh Yeoh AE,. Host pharmacogenetic factors significantly contribute to refinement of prognosis in children with Acute Lymphoblastic Leukemia (ALL): result from the Malaysia-Singapore (Ma-Spore) ALL 2003 Study. ASH. 2011.