Polymorphisms in the methotrexate transport pathway: A new tool for MTX plasma level prediction in pediatric acute lymphoblastic leukemia

Pharmacogenetics and Genomics

Volumn 23, Issue 2, 2013, Pages 53-61

  Lopez Lopez, Elixabet ^a   Ballesteros, Javier ^a   Piñan, Maria A ^b   Sanchez De Toledo, José ^c   Garcia De Andoin, Nagore ^d   Garcia Miguel, Purificacion ^e   Navajas, Aurora ^b   Garcia Orad, Africa ^a  

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

^b HOSPITAL DE CRUCES   (Spain)

^c HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^d HOSPITAL DONOSTIA   (Spain)

^e HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

acute lymphoblastic leukemia; methotrexate; polymorphism; toxicity

Indexed keywords

ABC TRANSPORTER; CYTARABINE; FOLINIC ACID; MERCAPTOPURINE; METHOTREXATE;

ACUTE LYMPHOBLASTIC LEUKEMIA; ARTICLE; CHILD; DIARRHEA; DRUG BLOOD LEVEL; DRUG ELIMINATION; DRUG TRANSPORT; FEMALE; GENOTYPE; HAPLOTYPE; HUMAN; HYPERBILIRUBINEMIA; LIVER TOXICITY; MAJOR CLINICAL STUDY; MALE; MUCOSA INFLAMMATION; NEPHROTOXICITY; PREDICTIVE VALUE; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; VOMITING;

EID: 84873081171     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0b013e32835c3b24     Document Type: Article

References (41)

1. Koppen IJ, Hermans FJ, Kaspers GJ. Folate related gene polymorphisms and susceptibility to develop childhood acute lymphoblastic leukaemia. Br J Haematol 2010; 148:3-14.
2. Johnston WT, Lightfoot TJ, Simpson J, Roman E. Childhood cancer survival: a report from the United Kingdom Childhood Cancer Study. Cancer Epidemiol 2010; 34:659-666.
3. Pui CH, Robinson LL, Look AT. Acute lymphoblastic leukemia. Lancet 2008; 371:1030-1043.
4. Imanishi H, Okamura N, Yagi M, Noro Y, Moriya Y, Nakamura T, et al. Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma. J Hum Genet 2007; 52:166-171.
5. Ongaro A, De Mattei M, Della Porta MG, Rigolin G, Ambrosio C, Di Raimondo F, et al. Gene polymorphisms in folate metabolizing enzymes in adult acute lymphoblastic leukemia: effects on methotrexate-related toxicity and survival. Haematologica 2009; 94:1391-1398.
6. Kishi S, Cheng C, French D, Pei D, Das S, Cook EH, et al. Ancestry and pharmacogenetics of antileukemic drug toxicity. Blood 2007; 109:4151-4157.
7. Shimasaki N, Mori T, Torii C, Sato R, Shimada H, Tanigawara Y, et al. Influence of MTHFR and RFC1 polymorphisms on toxicities during maintenance chemotherapy for childhood acute lymphoblastic leukemia or lymphoma. J Pediatr Hematol Oncol 2008; 30:347-352.
8. 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 2011; 15:5-10.
9. 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 2008; 22:1798-1800.
10. Tantawy AA, El-Bostany EA, Adly AA, Abou El Asrar M, El-Ghouroury EA, Abdulghaffar EE. Methylene tetrahydrofolate reductase gene polymorphism in Egyptian children with acute lymphoblastic leukemia. Blood Coagul Fibrinolysis 2010; 21:28-34.
11. Kantar M, Kosova B, Cetingul N, Gumus S, Toroslu E, Zafer 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 2009; 50:912-917.
12. Krajinovic M, Costea I, Primeau M, Dulucq S, Moghrabi A. Combining several polymorphisms of thymidylate synthase gene for pharmacogenetic analysis. Pharmacogenomics J 2005; 5:374-380.
13. 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 2011; 52:1030-1040.
14. Faganel Kotnik B, Grabnar I, Bohanec Grabar P, 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 2011; 67:993-1006.
15. Erdilyi DJ, Kámory E, Csókay B, Andrikovics H, Tordai A, Kiss C, et al. Synergistic interaction of ABCB1 and ABCG2 polymorphisms predicts the prevalence of toxic encephalopathy during anticancer chemotherapy. Pharmacogenomics J 2008; 8:321-327.
16. Lopez-Lopez E, Martin-Guerrero I, Ballesteros J, Pinan MA, Garcia-Miguel P, Navajas A, et al. Polymorphisms of the SLCO1B1 gene predict methotrexate-related toxicity in childhood acute lymphoblastic leukemia. Pediatr Blood Cancer 2011; 57:612-619.
17. Treviño LR, Shimasaki N, Yang W, Panetta JC, Cheng C, Pei D, et al. Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects. J Clin Oncol 2009; 27:5972-5978.
18. Sambrook J, Russell DW. Molecular cloning: a laboratory manual. 3rd edn Cold Spring Harbor, USA: CSHL Press; 2001. pp. 4-12.
19. Benjamini Y, Hochberg Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc Ser 1995; 57:289-300.
20. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, et al. The structure of haplotype blocks in the human genome. Science 2002; 296:2225-2229.
21. Samuelsson J, Alonso S, Ruiz-Larroya T, Cheung TH, Wong YF, Perucho M. Frequent somatic demethylation of RAPGEF1/C3G intronic sequences in gastrointestinal and gynecological cancer. Int J Oncol 2011; 38:1575-1577.
22. Low SK, Kiyotani K, Mushiroda T, Daigo Y, Nakamura Y, Zembutsu H. Association study of genetic polymorphism in ABCC4 with cyclophosphamide-induced adverse drug reactions in breast cancer patients. J Hum Genet 2009; 54:564-571.
23. Nicoletti P, Cartsos VM, Palaska PK, Shen Y, Floratos A, Zavras AI. Genomewide pharmacogenetics of bisphosphonate-induced osteonecrosis of the jaw: the role of RBMS3. Oncologist 2012; 17:279-287.
24. Krishnamurthy P, Schwab M, Takenaka K, Nachagari D, Morgan J, Leslie M, et al. Transporter-mediated protection against thiopurine-induced hematopoietic toxicity. Cancer Res 2008; 68:4983-4989.
25. Ansari M, Sauty G, Labuda M, Gagné V, Laverdière C, Moghrabi A, et al. Polymorphisms in multidrug resistance-associated protein gene 4 is associated with outcome in childhood acute lymphoblastic leukemia. Blood 2009; 114:1383-1386.
26. Abla N, Chinn LW, Nakamura T, Liu L, Huang CC, Johns SJ, et al. The human multidrug resistance protein 4 (MRP4, ABCC4): functional analysis of a highly polymorphic gene. J Pharmacol Exp Ther 2008; 325:859-868.
27. Kruh GD, Belinsky MG, Gallo JM, Lee K. Physiological and pharmacological functions of Mrp2, Mrp3 and Mrp4 as determined from recent studies on gene-disrupted mice. Cancer Metastasis Rev 2007; 26:5-14.
28. Lee K, Klein-Szanto AJ, Kruh GD. Analysis of the MRP4 drug resistance profile in transfected NIH3T3 cells. J Natl Cancer Inst 2000; 92:1934-1940.
29. Chen ZS, Lee K, Walther S, Raftogianis RB, Kuwano M, Zeng H, et al. Analysis of methotrexate and folate transport by multidrug resistance protein 4 (ABCC4): MRP4 is a component of the methotrexate efflux system. Cancer Res 2002; 62:3144-3150.
30. Stamp LK, Chapman PT, O'Donnell JL, Zhang M, James J, Frampton C, 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 2010; 20:367-376.
31. Rau T, Erney B, Göres 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 2006; 80:468-476.
32. Lubomirov R, di Iulio J, Fayet A, Colombo S, Martinez R, Marzolini C, et al. ADME pharmacogenetics: investigation of the pharmacokinetics of the antiretroviral agent lopinavir coformulated with ritonavir. Pharmacogenet Genomics 2010; 20:217-230.
33. Ohmann EL, Burckart GJ, Brooks MM, Chen Y, Pravica V, Girnita DM, et al. Genetic polymorphisms influence mycophenolate mofetil-related adverse events in pediatric heart transplant patients. J Heart Lung Transplant 2010; 29:509-516.
34. Rodŕiguez-Nóvoa S, Labarga P, Soriano V, Egan D, Albalater M, Morello J, et al. Predictors of kidney tubular dysfunction in HIV-infected patients treated with tenofovir: a pharmacogenetic study. Clin Infect Dis 2009; 48:e108-e116.
35. Choi JH, Ahn BM, Yi J, Lee JH, Lee JH, Nam SW, et al. MRP2 haplotypes confer differential susceptibility to toxic liver injury. Pharmacogenet Genomics 2007; 17:403-415.
36. Daly AK, Aithal GP, Leathart JB, Swainsbury RA, Dang TS, Day CP. Genetic susceptibility to diclofenac-induced hepatotoxicity: contribution of UGT2B7, CYP2C8, and ABCC2 genotypes. Gastroenterology 2007; 132:272-281.
37. Han JY, Lim HS, Park YH, Lee SY, Lee JS. Integrated pharmacogenetic prediction of irinotecan pharmacokinetics and toxicity in patients with advanced non-small cell lung cancer. Lung Cancer 2009; 63:115-120.
38. Sookoian S, Castaño G, Burgueño A, Gianotti TF, Pirola CJ. Association of the multidrug-resistance-associated protein gene (ABCC2) variants with intrahepatic cholestasis of pregnancy. J Hepatol 2008; 48:125-132.
39. Han B, Gao G, Wu W, Gao Z, Zhao X, Li L, et al. Association of ABCC2 polymorphisms with platinum-based chemotherapy response and severe toxicity in non-small cell lung cancer patients. Lung Cancer 2011; 72:238-243.
40. Nies AT, Keppler D. The apical conjugate efflux pump ABCC2 (MRP2). Pflugers Arch 2007; 453:643-659.
41. Gerk PM, Vore M. Regulation of expression of the multidrug resistance-associated protein 2 (MRP2) and its role in drug disposition. J Pharmacol Exp Ther 2002; 302:407-415.