Pharmacogenetics of childhood acute lymphoblastic leukemia

Pharmacogenomics

Volumn 15, Issue 10, 2014, Pages 1383-1398

  Lopez Lopez, Elixabet ^a   Gutierrez Camino, Angela ^a   Bilbao Aldaiturriaga, Nerea ^a   Pombar Gomez, Maria ^a   Martin Guerrero, Idoia ^a   Garcia Orad, Africa ^a,b  

^a UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

^b BioCruces Health Research Institute   (Spain)

Author keywords

acute lymphoblastic leukemia; childhood; outcome; pharmacogenetics; toxicity; treatment

Indexed keywords

ASPARAGINASE; GLUCOCORTICOID; GLUTATHIONE TRANSFERASE; MERCAPTOPURINE; MESSENGER RNA; SOLUTE CARRIER ORGANIC ANION TRANSPORTER 1B1; THIOPURINE METHYLTRANSFERASE; VINCRISTINE; METHOTREXATE;

ACUTE LYMPHOBLASTIC LEUKEMIA; CLINICAL PRACTICE; CLINICAL PROTOCOL; DNA METHYLATION; DRUG EFFICACY; DRUG MECHANISM; DRUG SAFETY; EPIGENETICS; FOLH1 GENE; GENE; GENE EXPRESSION REGULATION; GENE REPRESSION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; GST GENE; HUMAN; ITPA GENE; PACSIN2 GENE; PHARMACOGENETICS; REVIEW; SLCO1B1 GENE; TPMT GENE; CHILD; GENETIC EPIGENESIS; GENETICS; PATHOLOGY; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; PRESCHOOL CHILD; TREATMENT OUTCOME;

CHILD; CHILD, PRESCHOOL; EPIGENESIS, GENETIC; HUMANS; METHOTREXATE; PHARMACOGENETICS; POLYMORPHISM, GENETIC; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; TREATMENT OUTCOME;

EID: 84906653314     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.14.106     Document Type: Review

References (154)

1. Borowitz MJ, Chan JKC. B Lymphoblastic Leukaemia/Lymphoma, nototherwise specified. In: WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, Fourth Edition. Swerdlow SH, Campo E, Harris NL (Eds). International Agency for Research on Cancer(IARC), Lyon, France (2008).
2. Hunger SP, Lu X, Devidas M et al. Improved survival for children and adolescents with acute lymphoblastic leukemia between 1990 and 2005: a report from the Children's Oncology Group. J. Clin. Oncol. 30(14), 1663-1669 (2012).
3. Moricke A, Zimmermann M, Reiter A et al. Long-term results of five consecutive trials in childhood acute lymphoblastic leukemia performed by the ALL-BFM study group from 1981 to 2000. Leukemia 24(2), 265-284 (2010).
4. Pui CH, Campana D, Pei D et al. Treating childhood acute lymphoblastic leukemia without cranial irradiation. N. Engl. J. Med. 360(26), 2730-2741 (2009).
5. Cheok MH, Evans WE. Acute lymphoblastic leukaemia: a model for the pharmacogenomics of cancer therapy. Nat. Rev. Cancer 6(2), 117-129 (2006). (Pubitemid 43361544)
6. Paugh SW, Stocco G, McCorkle JR, Diouf B, Crews KR, Evans WE. Cancer pharmacogenomics. Clin. Pharmacol. Ther. 90(3), 461-466 (2011).
7. Wall AM, Rubnitz JE. Pharmacogenomic effects on therapy for acute lymphoblastic leukemia in children. Pharmacogenomics J. 3(3), 128-135 (2003). (Pubitemid 36850155)
8. Cheok MH, Pottier N, Kager L, Evans WE. Pharmacogenetics in acute lymphoblastic leukemia. Semin. Hematol. 46(1), 39-51 (2009).
9. Inaba H, Greaves M, Mullighan CG. Acute lymphoblastic leukaemia. Lancet 381(9881), 1943-1955 (2013).
10. Krynetski EY, Tai HL, Yates CR et al. Genetic polymorphism of thiopurine S-methyltransferase: clinical importance and molecular mechanisms. Pharmacogenetics 6(4), 279-290 (1996). (Pubitemid 26288618)
11. McLeod HL, Krynetski EY, Relling MV, Evans WE. Genetic polymorphism of thiopurine methyltransferase and its clinical relevance for childhood acute lymphoblastic leukemia. Leukemia 14(4), 567-572 (2000). (Pubitemid 30195445)
12. Carroll WL, Bhojwani D, Min DJ et al. Pediatric acute lymphoblastic leukemia. Hematology. Am. Soc. Hematol. Educ. Program. 102-131 (2003).
13. Yates CR, Krynetski EY, Loennechen T et al. Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. Ann. Intern. Med. 126(8), 608-614 (1997). (Pubitemid 27172187)
14. Lennard L, Lilleyman JS, Van Loon J, Weinshilboum RM. Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukaemia. Lancet 336(8709), 225-229 (1990). (Pubitemid 20229068)
15. Evans WE, Hon YY, Bomgaars L et al. Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine. J. Clin. Oncol. 19(8), 2293-2301 (2001). (Pubitemid 32366982)
16. Relling MV, Hancock ML, Rivera GK et al. Mercaptopurine therapy intolerance and heterozygosity at the thiopurine S-methyltransferase gene locus. J. Natl. Cancer Inst. 91(23), 2001-2008 (1999).
17. Dokmanovic L, Urosevic J, Janic D et al. Analysis of thiopurine S-methyltransferase polymorphism in the population of Serbia and Montenegro and mercaptopurine therapy tolerance in childhood acute lymphoblastic leukemia. Ther. Drug Monit. 28(6), 800-806 (2006). (Pubitemid 44967661)
18. Peregud-Pogorzelski J, Tetera-Rudnicka E, Kurzawski M et al. Thiopurine S-methyltransferase (TPMT) polymorphisms in children with acute lymphoblastic leukemia, and the need for reduction or cessation of 6-mercaptopurine doses during maintenance therapy: the Polish multicenter analysis. Pediatr. Blood Cancer 57(4), 578-582 (2011).
19. Albayrak M, Konyssova U, Kaya Z et al. Thiopurine methyltransferase polymorphisms and mercaptopurine tolerance in Turkish children with acute lymphoblastic leukemia. Cancer Chemother. Pharmacol. 68(5), 1155-1159 (2011).
20. Dervieux T, Medard Y, Verpillat P et al. Possible implication of thiopurine S-methyltransferase in occurrence of infectious episodes during maintenance therapy for childhood lymphoblastic leukemia with mercaptopurine. Leukemia 15(11), 1706-1712 (2001). (Pubitemid 33061837)
21. Adam de Beaumais T, Fakhoury M, Medard Y et al. Determinants of mercaptopurine toxicity in paediatric acute lymphoblastic leukemia maintenance therapy. Br. J. Clin. Pharmacol. 71(4), 575-584 (2011).
22. Wan Rosalina WR, Teh LK, Mohamad N et al. Polymorphism of ITPA 94CA and risk of adverse effects among patients with acute lymphoblastic leukaemia treated with 6-mercaptopurine. J. Clin. Pharm. Ther. 37(2), 237-241 (2012).
23. Rocha JC, Cheng C, Liu W et al. Pharmacogenetics of outcome in children with acute lymphoblastic leukemia. Blood 105(12), 4752-4758 (2005). (Pubitemid 40807300)
24. Shimasaki N, Mori T, Torii C et al. Influence of MTHFR and RFC1 polymorphisms on toxicities during maintenance chemotherapy for childhood acute lymphoblastic leukemia or lymphoma. J. Pediatr. Hematol. Oncol. 30(5), 347-352 (2008). (Pubitemid 351643456)
25. Desire S, Balasubramanian P, Bajel A et al. Frequency of TPMT alleles in Indian patients with acute lymphatic leukemia and effect on the dose of 6-mercaptopurine. Med. Oncol. 27(4), 1046-1049 (2010).
26. Fakhoury M, Andreu-Gallien J, Mahr A et al. Should TPMT genotype and activity be used to monitor 6-mercaptopurine treatment in children with acute lymphoblastic leukaemia? J. Clin. Pharm. Ther. 32(6), 633-639 (2007). (Pubitemid 350135107)
27. Silva MR, de Oliveira BM, Viana MB, Murao M, Romanha AJ. Thiopurine S-methyltransferase (TPMT) gene polymorphism in Brazilian children with acute lymphoblastic leukemia: association with clinical and laboratory data. Ther. Drug Monit. 30(6), 700-704 (2008).
28. Dokmanovic L, Janic D, Krstovski N, Zukic B, Tosic N, Pavlovic S. [Importance of genotyping of thiopurine S-methyltransferase in children with acute lymphoblastic leukaemia during maintenance therapy]. Srp. Arh. Celok. Lek. 136(11-12), 609-616 (2008).
29. Stanulla M, Schaeffeler E, Flohr T et al. Thiopurine methyltransferase (TPMT) genotype and early treatment response to mercaptopurine in childhood acute lymphoblastic leukemia. JAMA 293(12), 1485-1489 (2005). (Pubitemid 40393293)
30. Relling MV, Gardner EE, Sandborn WJ et al. Clinical Pharmacogenetics Implementation Consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing. Clin. Pharmacol. Ther. 89(3), 387-391 (2011).
31. Relling MV, Gardner EE, Sandborn WJ et al. Clinical pharmacogenetics implementation consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing: 2013 update. Clin. Pharmacol. Ther. 93(4), 324-325 (2013).
32. Stocco G, Franca R, Verzegnassi F, Londero M, Rabusin M, Decorti G. Pharmacogenomic approaches for tailored anti-leukemic therapy in children. Curr. Med. Chem. 20(17), 2237-2253 (2013).
33. Kotur N, Stankovic B, Kassela K et al. 6-mercaptopurine influences TPMT gene transcription in a TPMT gene promoter variable number of tandem repeats-dependent manner. Pharmacogenomics 13(3), 283-295 (2012).
34. von Ahsen N, Oellerich M, Armstrong VW. Characterization of the inosine triphosphatase (ITPA) gene: haplotype structure, haplotype-phenotype correlation and promoter function. Ther. Drug Monit. 30(1), 16-22 (2008). (Pubitemid 351161094)
35. Stocco G, Cheok MH, Crews KR et al. Genetic polymorphism of inosine triphosphate pyrophosphatase is a determinant of mercaptopurine metabolism and toxicity during treatment for acute lymphoblastic leukemia. Clin. Pharmacol. Ther. 85(2), 164-172 (2009).
36. Dorababu P, Nagesh N, Linga VG et al. Epistatic interactions between thiopurine methyltransferase (TPMT) and inosine triphosphate pyrophosphatase (ITPA) variations determine 6-mercaptopurine toxicity in Indian children with acute lymphoblastic leukemia. Eur. J. Clin. Pharmacol. 68(4), 379-387 (2012).
37. Stocco G, Yang W, Crews KR et al. PACSIN2 polymorphism influences TPMT activity and mercaptopurine-related gastrointestinal toxicity. Hum. Mol. Genet. 21(21), 4793-4804 (2012).
38. Stocco G, Franca R, Verzegnassi F, Londero M, Rabusin M, Decorti G. Multilocus genotypes of relevance for drug metabolizing enzymes and therapy with thiopurines in patients with acute lymphoblastic leukemia. Front. Genet. 3, 309 (2012).
39. Dorababu P, Naushad SM, Linga VG et al. Genetic variants of thiopurine and folate metabolic pathways determine 6-MP-mediated hematological toxicity in childhood ALL. Pharmacogenomics 13(9), 1001-1008 (2012).
40. Adam de Beaumais T, Jacqz-Aigrain E. Pharmacogenetic determinants of mercaptopurine disposition in children with acute lymphoblastic leukemia. Eur. J. Clin. Pharmacol. 68(9), 1233-1242 (2012).
41. 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. 4(1), 66-72 (2004). (Pubitemid 38256607)
42. Gorlick R, Goker E, Trippett T, Waltham M, Banerjee D, Bertino JR. Intrinsic and acquired resistance to methotrexate in acute leukemia. N. Engl. J. Med. 335(14), 1041-1048 (1996). (Pubitemid 26338736)
43. Krajinovic M, Moghrabi A. Pharmacogenetics of methotrexate. Pharmacogenomics 5(7), 819-834 (2004). (Pubitemid 39386751)
44. Mikkelsen TS, Thorn CF, Yang JJ et al. PharmGKB summary: methotrexate pathway. Pharmacogenet. Genomics 21(10), 679-686 (2011).
45. Swerts K, De Moerloose B, Dhooge C, Laureys G, Benoit Y, Philippe J. Prognostic significance of multidrug resistance-related proteins in childhood acute lymphoblastic leukaemia. Eur. J. Cancer 42(3), 295-309 (2006). (Pubitemid 43132884)
46. Trevino LR, Shimasaki N, Yang W et al. Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects. J. Clin. Oncol. 27(35), 5972-5978 (2009).
47. Abe T, Unno M, Onogawa T et al. LST-2, a human liver-specific organic anion transporter, determines methotrexate sensitivity in gastrointestinal cancers. Gastroenterology 120(7), 1689-1699 (2001). (Pubitemid 32523487)
48. Imanishi H, Okamura N, Yagi M et al. Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma. J. Hum. Genet. 52(2), 166-171 (2007). (Pubitemid 46188292)
49. Laverdiere C, Chiasson S, Costea I, Moghrabi A, Krajinovic M. Polymorphism G80A in the reduced folate carrier gene and its relationship to methotrexate plasma levels and outcome of childhood acute lymphoblastic leukemia. Blood 100(10), 3832-3834 (2002). (Pubitemid 35303961)
50. Gregers J, Christensen IJ, Dalhoff K et al. The association of reduced folate carrier 80GA polymorphism to outcome in childhood acute lymphoblastic leukemia interacts with chromosome 21 copy number. Blood 115(23), 4671-4677 (2010).
51. Leyva-Vazquez MA, Organista-Nava J, Gomez-Gomez Y, Contreras-Quiroz A, Flores-Alfaro E, Illades-Aguiar B. Polymorphism G80A in the reduced folate carrier gene and its relationship to survival and risk of relapse in acute lymphoblastic leukemia. J. Investig. Med. 60(7), 1064-1067 (2012).
52. Ashton LJ, Gifford AJ, Kwan E et al. Reduced folate carrier and methylenetetrahydrofolate reductase gene polymorphisms: associations with clinical outcome in childhood acute lymphoblastic leukemia. Leukemia 23(7), 1348-1351 (2009).
53. de Deus DM, de Lima EL, Seabra Silva RM, Leite EP, Cartaxo Muniz MT. Influence of methylenetetrahydrofolate reductase C677T, A1298C, and G80A polymorphisms on the survival of pediatric patients with acute lymphoblastic leukemia. Leuk. Res. Treatment. 2012, 292043 (2012).
54. Yates Z, Lucock M. G80A reduced folate carrier SNP modulates cellular uptake of folate and affords protection against thrombosis via a non homocysteine related mechanism. Life Sci. 77(22), 2735-2742 (2005). (Pubitemid 41297860)
55. Kishi S, Cheng C, French D et al. Ancestry and pharmacogenetics of antileukemic drug toxicity. Blood 109(10), 4151-4157 (2007). (Pubitemid 46743376)
56. Shimasaki N, Mori T, Samejima H et al. Effects of methylenetetrahydrofolate reductase and reduced folate carrier 1 polymorphisms on high-dose methotrexate-induced toxicities in children with acute lymphoblastic leukemia or lymphoma. J. Pediatr. Hematol. Oncol. 28(2), 64-68 (2006).
57. Faganel KB, Dolzan V, Grabnar I, Jazbec J. Relationship of the reduced folate carrier gene polymorphism G80A to methotrexate plasma concentration, toxicity, and disease outcome in childhood acute lymphoblastic leukemia. Leuk. Lymphoma 51(4), 724-726 (2010).
58. Radtke S, Zolk O, Renner B et al. Germline genetic variations in methotrexate candidate genes are associated with pharmacokinetics, toxicity, and outcome in childhood acute lymphoblastic leukemia. Blood 121(26), 5145-5153 (2013).
59. Pietrzyk JJ, Bik-Multanowski M, Balwierz W et al. Additional genetic risk factor for death in children with acute lymphoblastic leukemia: a common polymorphism of the MTHFR gene. Pediatr. Blood Cancer 52(3), 364-368 (2009).
60. Aplenc R, Thompson J, Han P et al. Methylenetetrahydrofolate reductase polymorphisms and therapy response in pediatric acute lymphoblastic leukemia. Cancer Res. 65(6), 2482-2487 (2005). (Pubitemid 40490161)
61. Yanagimachi M, Goto H, Kaneko T et al. Influence of pre-hydration and pharmacogenetics on plasma methotrexate concentration and renal dysfunction following high-dose methotrexate therapy. Int. J. Hematol. 98(6), 702-707 (2013).
62. Faganel KB, Grabnar I, Bohanec GP, Dolzan V, Jazbec J. Association of genetic polymorphism in the folate metabolic pathway with methotrexate pharmacokinetics and toxicity in childhood acute lymphoblastic leukaemia and malignant lymphoma. Eur. J. Clin. Pharmacol. 67(10), 993-1006 (2011).
63. El-Khodary NM, El-Haggar SM, Eid MA, Ebeid EN. Study of the pharmacokinetic and pharmacogenetic contribution to the toxicity of high-dose methotrexate in children with acute lymphoblastic leukemia. Med. Oncol. 29(3), 2053-2062 (2012).
64. Tantawy AA, El-Bostany EA, Adly AA, Abou El AM, El-Ghouroury EA, Abdulghaffar EE. Methylene tetrahydrofolate reductase gene polymorphism in Egyptian children with acute lymphoblastic leukemia. Blood Coagul. Fibrinolysis 21(1), 28-34 (2010).
65. Salazar J, Altes A, del Rio E et al. Methotrexate consolidation treatment according to pharmacogenetics of MTHFR ameliorates event-free survival in childhood acute lymphoblastic leukaemia. Pharmacogenomics J. 12(5), 379-385 (2012).
66. D'Angelo V, Ramaglia M, Iannotta A et al. Methotrexate toxicity and efficacy during the consolidation phase in paediatric acute lymphoblastic leukaemia and MTHFR polymorphisms as pharmacogenetic determinants. Cancer Chemother. Pharmacol. 68(5), 1339-1346 (2011).
67. Liu SG, Li ZG, Cui L, Gao C, Li WJ, Zhao XX. Effects of methylenetetrahydrofolate reductase gene polymorphisms on toxicities during consolidation therapy in pediatric acute lymphoblastic leukemia in a Chinese population. Leuk. Lymphoma 52(6), 1030-1040 (2011).
68. Sepe DM, McWilliams T, Chen J et al. Germline genetic variation and treatment response on CCG-1891. Pediatr. Blood Cancer 58(5), 695-700 (2012).
69. Huang L, Tissing WJ, de Jonge R, van Zelst BD, Pieters R. Polymorphisms in folate-related genes: association with side effects of high-dose methotrexate in childhood acute lymphoblastic leukemia. Leukemia 22(9), 1798-1800 (2008).
70. Erculj N, Kotnik BF, Debeljak M, Jazbec J, Dolzan V. Influence of folate pathway polymorphisms on high-dose methotrexate-related toxicity and survival in childhood acute lymphoblastic leukemia. Leuk. Lymphoma 53(6), 1096-1104 (2012).
71. Krajinovic M, Costea I, Primeau M, Dulucq S, Moghrabi A. Combining several polymorphisms of thymidylate synthase gene for pharmacogenetic analysis. Pharmacogenomics J. 5(6), 374-380 (2005).
72. Pietrzyk JJ, Bik-Multanowski M, Skoczen S et al. Polymorphism of the thymidylate synthase gene and risk of relapse in childhood ALL. Leuk. Res. 35(11), 1464-1466 (2011).
73. Krajinovic M, Costea I, Chiasson S. Polymorphism of the thymidylate synthase gene and outcome of acute lymphoblastic leukaemia. Lancet 359(9311), 1033-1034 (2002). (Pubitemid 34286543)
74. da Silva Silveira V, Canalle R, Scrideli CA et al. Polymorphisms of xenobiotic metabolizing enzymes and DNA repair genes and outcome in childhood acute lymphoblastic leukemia. Leuk. Res. 33(7), 898-901 (2009).
75. Erculj N, Faganel KB, Debeljak M, Jazbec J, Dolzan V. DNA repair polymorphisms influence the risk of second neoplasm after treatment of childhood acute lymphoblastic leukemia. J. Cancer Res. Clin. Oncol. 138(11), 1919-1930 (2012).
76. Dulucq S, St-Onge G, Gagne V et al. DNA variants in the dihydrofolate reductase gene and outcome in childhood ALL. Blood 111(7), 3692-3700 (2008).
77. Al-Shakfa F, Dulucq S, Brukner I et al. DNA variants in region for noncoding interfering transcript of dihydrofolate reductase gene and outcome in childhood acute lymphoblastic leukemia. Clin. Cancer Res. 15(22), 6931-6938 (2009).
78. Gomez-Gomez Y, Organista-Nava J, Saavedra-Herrera MV et al. Survival and risk of relapse of acute lymphoblastic leukemia in a Mexican population is affected by dihydrofolate reductase gene polymorphisms. Exp. Ther. Med. 3(4), 665-672 (2012).
79. 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 91(8), 1113-1116 (2006). (Pubitemid 44204780)
80. Stanulla M, Schaffeler E, Arens S et al. GSTP1 and MDR1 genotypes and central nervous system relapse in childhood acute lymphoblastic leukemia. Int. J. Hematol. 81(1), 39-44 (2005). (Pubitemid 40165422)
81. Yang YL, Lin DT, Chang SK et al. Pharmacogenomic variations in treatment protocols for childhood acute lymphoblastic leukemia. Pediatr. Blood Cancer 54(2), 206-211 (2010).
82. Rao DN, Anuradha C, Vishnupriya S et al. Association of an MDR1 gene (C3435T) polymorphism with acute leukemia in India. Asian Pac. J. Cancer Prev. 11(4), 1063-1066 (2010).
83. Jamroziak K, Mlynarski W, Balcerczak E et al. Functional C3435T polymorphism of MDR1 gene: an impact on genetic susceptibility and clinical outcome of childhood acute lymphoblastic leukemia. Eur. J. Haematol. 72(5), 314-321 (2004). (Pubitemid 38520728)
84. Erdelyi DJ, Kamory E, Zalka A et al. The role of ABC-transporter gene polymorphisms in chemotherapy induced immunosuppression, a retrospective study in childhood acute lymphoblastic leukaemia. Cell Immunol. 244(2), 121-124 (2006). (Pubitemid 46733913)
85. Erdilyi DJ, Kamory E, Csokay B et al. Synergistic interaction of ABCB1 and ABCG2 polymorphisms predicts the prevalence of toxic encephalopathy during anticancer chemotherapy. Pharmacogenomics J. 8(5), 321-327 (2008).
86. Kishi S, Griener J, Cheng C et al. Homocysteine, pharmacogenetics, and neurotoxicity in children with leukemia. J. Clin. Oncol. 21(16), 3084-3091 (2003). (Pubitemid 46606289)
87. Karathanasis NV, Stiakaki E, Goulielmos G, Kalmanti M. The effect of RFC G80A polymorphism in Cretan children with acute lymphoblastic leukemia and its interaction with MTHFR C677T and A1298C polymorphisms. Int. J. Lab Hematol. 36(4), 425-430 (2013).
88. Karathanasis NV, Stiakaki E, Goulielmos GN, Kalmanti M. The role of the methylenetetrahydrofolate reductase 677 and 1298 polymorphisms in Cretan children with acute lymphoblastic leukemia. Genet. Test. Mol. Biomarkers 15(1-2), 5-10 (2011).
89. Chatzidakis K, Goulas A, Athanassiadou-Piperopoulou F, Fidani L, Koliouskas D, Mirtsou V. Methylenetetrahydrofolate reductase C677T polymorphism: association with risk for childhood acute lymphoblastic leukemia and response during the initial phase of chemotherapy in greek patients. Pediatr. Blood Cancer 47(2), 147-151 (2006). (Pubitemid 44025246)
90. Pakakasama S, Kanchanakamhaeng K, Kajanachumpol S et al. Genetic polymorphisms of folate metabolic enzymes and toxicities of high dose methotrexate in children with acute lymphoblastic leukemia. Ann. Hematol. 86(8), 609-611 (2007). (Pubitemid 47018479)
91. Lopez-Lopez E, Martin-Guerrero I, Ballesteros J et al. Polymorphisms of the SLCO1B1 gene predict methotrexate-related toxicity in childhood acute lymphoblastic leukemia. Pediatr. Blood Cancer 57(4), 612-619 (2011).
92. Horinouchi M, Yagi M, Imanishi H et al. Association of genetic polymorphisms with hepatotoxicity in patients with childhood acute lymphoblastic leukemia or lymphoma. Pediatr. Hematol. Oncol. 27(5), 344-354 (2010).
93. Kantar M, Kosova B, Cetingul N et al. Methylenetetrahydrofolate reductase C677T and A1298C gene polymorphisms and therapy-related toxicity in children treated for acute lymphoblastic leukemia and non-Hodgkin lymphoma. Leuk. Lymphoma 50(6), 912-917 (2009).
94. Van Kooten Niekerk PB, Schmiegelow K, Schroeder H. Influence of methylene tetrahydrofolate reductase polymorphisms and coadministration of antimetabolites on toxicity after high dose methotrexate. Eur. J. Haematol. 81(5), 391-398 (2008).
95. 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. 13(6), 498-506 (2013).
96. 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. 33(5), 1445-1454 (2012).
97. Tirona RG, Leake BF, Merino G, Kim RB. Polymorphisms in OATP-C: identification of multiple allelic variants associated with altered transport activity among European-and African-Americans. J. Biol. Chem. 276(38), 35669-35675 (2001).
98. van de Steeg E, van der Kruijssen CM, Wagenaar E et al. Methotrexate pharmacokinetics in transgenic mice with liver-specific expression of human organic anion-transporting polypeptide 1B1 (SLCO1B1). Drug Metab. Dispos. 37(2), 277-281 (2009).
99. Ramsey LB, Panetta JC, Smith C et al. Genome-wide study of methotrexate clearance replicates SLCO1B1. Blood 121(6), 898-904 (2013).
100. Ramsey LB, Bruun GH, Yang W et al. Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition. Genome Res. 22(1), 1-8 (2012).
101. Kim MJ, Skewes-Cox P, Fukushima H et al. Functional characterization of liver enhancers that regulate drug-associated transporters. Clin. Pharmacol. Ther. 89(4), 571-578 (2011).
102. Lopez-Lopez E, Ballesteros J, Pinan MA et al. Polymorphisms in the methotrexate transport pathway: a new tool for MTX plasma level prediction in pediatric acute lymphoblastic leukemia. Pharmacogenet. Genomics 23(2), 53-61 (2013).
103. Stamp LK, Chapman PT, O'Donnell JL et al. Polymorphisms within the folate pathway predict folate concentrations but are not associated with disease activity in rheumatoid arthritis patients on methotrexate. Pharmacogenet. Genomics 20(6), 367-376 (2010).
104. Rau T, Erney B, Gores R, Eschenhagen T, Beck J, Langer T. High-dose methotrexate in pediatric acute lymphoblastic leukemia: impact of ABCC2 polymorphisms on plasma concentrations. Clin. Pharmacol. Ther. 80(5), 468-476 (2006). (Pubitemid 44737489)
105. Liu Y, Yin Y, Sheng Q et al. Association of ABCC2-24CT polymorphism with high-dose methotrexate plasma concentrations and toxicities in childhood acute lymphoblastic leukemia. PLoS ONE 9(1), e82681 (2014).
106. Ansari M, Sauty G, Labuda M et al. Polymorphism in multidrug resistance-associated protein gene 3 is associated with outcomes in childhood acute lymphoblastic leukemia. Pharmacogenomics J. 12(5), 386-394 (2012).
107. Sharifi MJ, Bahoush G, Zaker F, Ansari S, Rafsanjani KA, Sharafi H. Association of-24CT, 1249GA, and 3972CT ABCC2 gene polymorphisms with methotrexate serum levels and toxic side effects in children with acute lymphoblastic leukemia. Pediatr. Hematol. Oncol. 31(2), 169-177 (2014).
108. Ansari M, Sauty G, Labuda M et al. Polymorphisms in multidrug resistance-associated protein gene 4 is associated with outcome in childhood acute lymphoblastic leukemia. Blood 114(7), 1383-1386 (2009).
109. Mishra PJ, Humeniuk R, Mishra PJ, Longo-Sorbello GS, Banerjee D, Bertino JR. A miR-24 microRNA binding-site polymorphism in dihydrofolate reductase gene leads to methotrexate resistance. Proc. Natl. Acad. Sci. USA 104(33), 13513-13518 (2007). (Pubitemid 47293976)
110. Mishra PJ, Bertino J.R. MicroRNA polymorphisms: the future of pharmacogenomics, molecular epidemiology and individualized medicine. Pharmacogenomics 10(3), 399-416 (2009).
111. Mishra PJ, Mishra PJ, Banerjee D, Bertino JR. miRSNPs or miR-polymorphisms, new players in microRNA mediated regulation of the cell: introducing microRNA pharmacogenomics. Cell Cycle 7(7), 853-858 (2008). (Pubitemid 351573776)
112. Bertino JR, Banerjee D, Mishra PJ. Pharmacogenomics of microRNA: a miRSNP towards individualized therapy. Pharmacogenomics 8(12), 1625-1627 (2007).
113. Rukov JL, Shomron N. MicroRNA pharmacogenomics: post-transcriptional regulation of drug response. Trends Mol. Med. 17(8), 412-423 (2011).
114. Lopez-Lopez E, Gutierrez-Camino A, Pinan MA et al. Pharmacogenetics of microRNAs and microRNAs biogenesis machinery in pediatric acute lymphoblastic leukemia. PLoS ONE 9(3), e91261 (2014).
115. Dixit G, Dhingra A, Kaushal D. Vincristine induced cranial neuropathy. J. Assoc. Physicians India 60, 56-58 (2012).
116. Egbelakin A, Ferguson MJ, MacGill EA et al. Increased risk of vincristine neurotoxicity associated with low CYP3A5 expression genotype in children with acute lymphoblastic leukemia. Pediatr. Blood Cancer 56(3), 361-367 (2011).
117. Renbarger JL, McCammack KC, Rouse CE, Hall SD. Effect of race on vincristine-associated neurotoxicity in pediatric acute lymphoblastic leukemia patients. Pediatr. Blood Cancer 50(4), 769-771 (2008). (Pubitemid 351354782)
118. Moore AS, Norris R, Price G et al. Vincristine pharmacodynamics and pharmacogenetics in children with cancer: a limited-sampling, population modelling approach. J. Paediatr. Child Health 47(12), 875-882 (2011).
119. Hartman A, van Schaik RH, van der Heiden IP et al. Polymorphisms in genes involved in vincristine pharmacokinetics or pharmacodynamics are not related to impaired motor performance in children with leukemia. Leuk. Res. 34(2), 154-159 (2010).
120. Plasschaert SL, Groninger E, Boezen M et al. Influence of functional polymorphisms of the MDR1 gene on vincristine pharmacokinetics in childhood acute lymphoblastic leukemia. Clin. Pharmacol. Ther. 76(3), 220-229 (2004). (Pubitemid 39221796)
121. Schotte D, De Menezes RX, Akbari MF et al. MicroRNA characterize genetic diversity and drug resistance in pediatric acute lymphoblastic leukemia. Haematologica 96(5), 703-711 (2011).
122. Akbari MF, Lange-Turenhout EA, Aries IM, Pieters R, Den Boer ML. MiR-125b, miR-100 and miR-99a co-regulate vincristine resistance in childhood acute lymphoblastic leukemia. Leuk. Res. 37(10), 1315-1321 (2013).
123. Chen SH, Yang W, Fan Y et al. A genome-wide approach identifies that the aspartate metabolism pathway contributes to asparaginase sensitivity. Leukemia 25(1), 66-74 (2011).
124. Chen SH, Pei D, Yang W et al. Genetic variations in GRIA1 on chromosome 5q33 related to asparaginase hypersensitivity. Clin. Pharmacol. Ther. 88(2), 191-196 (2010).
125. Relling MV, Ramsey LB. Pharmacogenomics of acute lymphoid leukemia: new insights into treatment toxicity and efficacy. Hematology. Am. Soc. Hematol. Educ. Program. 2013, 126-130 (2013).
126. Pastorczak A, Fendler W, Zalewska-Szewczyk B et al. Asparagine synthetase (ASNS) gene polymorphism is associated with the outcome of childhood acute lymphoblastic leukemia by affecting early response to treatment. Leuk. Res. 38(2), 180-183 (2014).
127. Shah DS, Kumar R. Steroid resistance in leukemia. World J. Exp. Med. 3(2), 21-25 (2013).
128. Inaba H, Pui CH. Glucocorticoid use in acute lymphoblastic leukaemia. Lancet Oncol. 11(11), 1096-1106 (2010).
129. Relling MV, Yang W, Das S et al. Pharmacogenetic risk factors for osteonecrosis of the hip among children with leukemia. J. Clin. Oncol. 22(19), 3930-3936 (2004). (Pubitemid 41079875)
130. French D, Hamilton LH, Mattano LA, Jr et al. A PAI-1 (SERPINE1) polymorphism predicts osteonecrosis in children with acute lymphoblastic leukemia: a report from the Children's Oncology Group. Blood 111(9), 4496-4499 (2008).
131. Bond J, Adams S, Richards S, Vora A, Mitchell C, Goulden N. Polymorphism in the PAI-1 (SERPINE1) gene and the risk of osteonecrosis in children with acute lymphoblastic leukemia. Blood 118(9), 2632-2633 (2011).
132. Kawedia JD, Kaste SC, Pei D et al. Pharmacokinetic, pharmacodynamic, and pharmacogenetic determinants of osteonecrosis in children with acute lymphoblastic leukemia. Blood 117(8), 2340-2347 (2011).
133. Kamdem LK, Hamilton L, Cheng C et al. Genetic predictors of glucocorticoid-induced hypertension in children with acute lymphoblastic leukemia. Pharmacogenet. Genomics 18(6), 507-514 (2008). (Pubitemid 351769918)
134. Eipel OT, Nemeth K, Torok D et al. The glucocorticoid receptor gene polymorphism N363S predisposes to more severe toxic side effects during pediatric acute lymphoblastic leukemia (ALL) therapy. Int. J. Hematol. 97(2), 216-222 (2013).
135. Han BW, Feng DD, Li ZG et al. A set of miRNAs that involve in the pathways of drug resistance and leukemic stem-cell differentiation is associated with the risk of relapse and glucocorticoid response in childhood ALL. Hum. Mol. Genet. 20(24), 4903-4915 (2011).
136. Li XJ, Luo XQ, Han BW, Duan FT, Wei PP, Chen YQ. MicroRNA-100/99a, deregulated in acute lymphoblastic leukaemia, suppress proliferation and promote apoptosis by regulating the FKBP51 and IGF1R/mTOR signalling pathways. Br. J. Cancer 109(8), 2189-2198 (2013).
137. Yan J, Jiang N, Huang G et al. Deregulated MIR335 that targets MAPK1 is implicated in poor outcome of paediatric acute lymphoblastic leukaemia. Br. J. Haematol. 163(1), 93-103 (2013).
138. Kotani A, Ha D, Schotte D, Den Boer ML, Armstrong SA, Lodish HF. A novel mutation in the miR-128b gene reduces miRNA processing and leads to glucocorticoid resistance of MLL-AF4 acute lymphocytic leukemia cells. Cell Cycle 9(6), 1037-1042 (2010).
139. Kotani A, Ha D, Hsieh J et al. miR-128b is a potent glucocorticoid sensitizer in MLL-AF4 acute lymphocytic leukemia cells and exerts cooperative effects with miR-221. Blood 114(19), 4169-4178 (2009).
140. Borst L, Buchard A, Rosthoj S et al. Gene dose effects of GSTM1, GSTT1 and GSTP1 polymorphisms on outcome in childhood acute lymphoblastic leukemia. J. Pediatr. Hematol. Oncol. 34(1), 38-42 (2012).
141. Franca R, Rebora P, Basso G et al. Glutathione S-transferase homozygous deletions and relapse in childhood acute lymphoblastic leukemia: a novel study design in a large Italian AIEOP cohort. Pharmacogenomics 13(16), 1905-1916 (2012).
142. Eyada TK, El Ghonemy EG, El Ghoroury EA, El Bassyouni SO, El Masry MK. Study of genetic polymorphism of xenobiotic enzymes in acute leukemia. Blood
143. Takanashi M, Morimoto A, Yagi T et al. Impact of glutathione S-transferase gene deletion on early relapse in childhood B-precursor acute lymphoblastic leukemia. Haematologica 88(11), 1238-1244 (2003). (Pubitemid 37456378)
144. Anderer G, Schrappe M, Brechlin AM et al. Polymorphisms within glutathione S-transferase genes and initial response to glucocorticoids in childhood acute lymphoblastic leukaemia. Pharmacogenetics 10(8), 715-726 (2000).
145. Stanulla M, Schrappe M, Brechlin AM, Zimmermann M, Welte K. Polymorphisms within glutathione S-transferase genes (GSTM1, GSTT1, GSTP1) and risk of relapse in childhood B-cell precursor acute lymphoblastic leukemia: a case-control study. Blood 95(4), 1222-1228 (2000). (Pubitemid 30099830)
146. Marino S, Verzegnassi F, Tamaro P et al. Response to glucocorticoids and toxicity in childhood acute lymphoblastic leukemia: role of polymorphisms of genes involved in glucocorticoid response. Pediatr. Blood Cancer 53(6), 984-991 (2009).
147. Gatedee J, Pakakassama S, Muangman S, Pongstaporn W. Glutathione S-transferase P1 genotypes, genetic susceptibility and outcome of therapy in thai childhood acute lymphoblastic leukemia. Asian Pac. J. Cancer Prev. 8(2), 294-296 (2007).
148. Suneetha KJ, Nancy KN, Rajalekshmy KR, Rama R, Sagar TG, Rajkumar T. Role of glutathione-S-transferase and CYP1A1*2A polymorphisms in the therapy outcome of south Indian acute lymphoblastic leukemia patients. Indian J. Med. Paediatr. Oncol. 32(1), 25-29 (2011).
149. Kastrup IB, Worm J, Ralfkiaer E, Hokland P, Guldberg P, Gronbaek K. Genetic and epigenetic alterations of the reduced folate carrier in untreated diffuse large B-cell lymphoma. Eur. J. Haematol. 80(1), 61-66 (2008). (Pubitemid 350265231)
150. Kim IW, Han N, Burckart GJ, Oh JM. Epigenetic changes in gene expression for drug-metabolizing enzymes and transporters. Pharmacotherapy 34(2), 140-150 (2014).
151. DiNardo CD, Gharibyan V, Yang H et al. Impact of aberrant DNA methylation patterns including CYP1B1 methylation in adolescents and young adults with acute lymphocytic leukemia. Am. J. Hematol. 88(9), 784-789 (2013).
152. Thathia SH, Ferguson S, Gautrey HE et al. Epigenetic inactivation of TWIST2 in acute lymphoblastic leukemia modulates proliferation, cell survival and chemosensitivity. Haematologica 97(3), 371-378 (2012).
153. Bachmann PS, Piazza RG, Janes ME et al. Epigenetic silencing of BIM in glucocorticoid poor-responsive pediatric acute lymphoblastic leukemia, and its reversal by histone deacetylase inhibition. Blood 116(16), 3013-3022 (2010).
154. Gruhn B, Naumann T, Gruner D et al. The expression of histone deacetylase 4 is associated with prednisone poor-response in childhood acute lymphoblastic leukemia. Leuk. Res. 37(10), 1200-1207 (2013).