Influence of folate pathway polymorphisms on high-dose methotrexate-related toxicity and survival in childhood acute lymphoblastic leukemia

Leukemia and Lymphoma

Volumn 53, Issue 6, 2012, Pages 1096-1104

  Erčulj, Nina ^a   Kotnik, Barbara Faganel ^b   Debeljak, Maruša ^c   Jazbec, Janez ^b   Dolžan, Vita ^a  

^a UNIVERSITY OF LJUBLJANA   (Slovenia)

^b Department of Hematology and Oncology ^*  (Slovenia)

^c UNIVERSITY CHILDREN S HOSPITAL   (Slovenia)

Author keywords

Childhood leukemia; Folate pathway; Methotrexate; Polymorphisms; Survival; Toxicity

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); FOLIC ACID; METHOTREXATE; METHYLENETETRAHYDROFOLATE DEHYDROGENASE; THYMIDYLATE SYNTHASE;

ACUTE LYMPHOBLASTIC LEUKEMIA; ALLELE; ANEMIA; ARTICLE; CANCER SURVIVAL; CHILD; CHILDHOOD CANCER; DIARRHEA; DRUG MEGADOSE; ERYTHRODERMA; FEMALE; GASTROINTESTINAL PAIN; GENOTYPE; HEADACHE; HUMAN; INSOMNIA; LEUKOPENIA; LIVER TOXICITY; MAJOR CLINICAL STUDY; MALE; MOOD DISORDER; MUCOSA INFLAMMATION; MULTIPLE CYCLE TREATMENT; NAUSEA AND VOMITING; PARESIS; PRIORITY JOURNAL; RASH; SIDE EFFECT; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTOPENIA; VISUAL DISORDER;

ADOLESCENT; ANTINEOPLASTIC AGENTS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DOSE-RESPONSE RELATIONSHIP, DRUG; FEMALE; FOLIC ACID; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; METABOLIC NETWORKS AND PATHWAYS; METHOTREXATE; METHYLENETETRAHYDROFOLATE DEHYDROGENASE (NADP); METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); PHARMACOGENETICS; POLYMORPHISM, GENETIC; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; SURVIVAL ANALYSIS; THYMIDYLATE SYNTHASE;

EID: 84861355815     PISSN: 10428194     EISSN: 10292403     Source Type: Journal    
DOI: 10.3109/10428194.2011.639880     Document Type: Article

References (51)

1. Jazbec J, Rajic V, Karas Kuzelicki N. Leukemias of childhood. Zdrav Vestn 2008;77:25-30.
2. Conter V, Arico M, Basso G, et al. Long-term results of the Italian Association of Pediatric Hematology and Oncology (AIEOP) Studies 82, 87, 88, 91 and 95 for childhood acute lymphoblastic leukemia. Leukemia 2010;24:255-264.
3. Evans WE, Relling MV, Rodman JH, et al. Conventional compared with individualized chemotherapy for childhood acute lymphoblastic leukemia. N Engl J Med 1998;338:499-505. (Pubitemid 28103133)
4. Schmiegelow K. Advances in individual prediction of methotrexate toxicity: a review. Br J Haematol 2009;146:489-503.
5. Aplenc R, Lange B. Pharmacogenetic determinants of outcome in acute lymphoblastic leukaemia. Br J Haematol 2004;125:421-434. (Pubitemid 38916188)
6. Calvert H. An overview of folate metabolism: features relevant to the action and toxicities of antifolate anticancer agents. Semin Oncol 1999;26:3-10. (Pubitemid 29218022)
7. Hol FA, van der Put NM, Geurds MP, et al. Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate- dehydrogenase, methenyltetrahydrofolatecyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects. Clin Genet 1998;53:119-125. (Pubitemid 28188213)
8. Christensen KE, Rohlicek CV, Andelfi nger GU, et al. The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects. Hum Mutat 2009;30:212-220.
9. Krajinovic M, Lemieux-Blanchard E, Chiasson S, et al. Role of polymorphisms in MTHFR and MTHFD1 genes in the outcome of childhood acute lymphoblastic leukemia. Pharmacogenomics J 2004;4:66-72. (Pubitemid 38256607)
10. Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995;10:111-113.
11. Weisberg I, Tran P, Christensen B, et al. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab 1998;64:169-172. (Pubitemid 28453294)
12. Rocha JC, Cheng C, Liu W, et al. Pharmacogenetics of outcome in children with acute lymphoblastic leukemia. Blood 2005;105: 4752-4758. (Pubitemid 40807300)
13. Aplenc R, Thompson J, Han P, et al. Methylenetetrahydrofolate reductase polymorphisms and therapy response in pediatric acute lymphoblastic leukemia. Cancer Res 2005;65:2482-2487. (Pubitemid 40490161)
14. Faganel Kotnik B, Grabnar I, Bohanec Grabar P, et al. 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. Rots MG, Willey JC, Jansen G, et al. mRNA expression levels of methotrexate resistance-related proteins in childhood leukemia as determined by a standardized competitive template-based RT-PCR method. Leukemia 2000;14:2166-2175. (Pubitemid 32042257)
16. Horie N, Aiba H, Oguro K, et al. 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 1995;20:191-197.
17. Mandola MV, Stoehlmacher J, Muller-Weeks S, et al. 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 2003;63:2898-2904. (Pubitemid 36667162)
18. Kawakami K, Watanabe G. Identifi cation and functional analysis of single nucleotide polymorphism in the tandem repeat sequence of thymidylate synthase gene. Cancer Res 2003;63:6004-6007. (Pubitemid 37187503)
19. Morganti M, Ciantelli M, Giglioni B, et al. Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers. Eur J Cancer 2005;41:2176-2183. (Pubitemid 41337961)
20. Pietrzyk JJ, Bik-Multanowski M, Skoczen S, et al. Polymorphism of the thymidylate synthase gene and risk of relapse in childhood ALL. Leuk Res 2011;35:1464-1466.
21. Krajinovic M, Costea I, Chiasson S. Polymorphism of the thymidylate synthase gene and outcome of acute lymphoblastic leukaemia. Lancet 2002;359:1033-1034. (Pubitemid 34286543)
22. Relling MV, Yang W, Das S, et al. Pharmacogenetic risk factors for osteonecrosis of the hip among children with leukemia. J Clin Oncol 2004;22:3930-3936. (Pubitemid 41079875)
23. Ravindranath Y. Down syndrome and leukemia: new insights into the epidemiology, pathogenesis, and treatment. Pediatr Blood Cancer 2005;44:1-7. (Pubitemid 39602558)
24. Schrappe M, Reiter A, Ludwig WD, et al. Improved outcome in childhood acute lymphoblastic leukemia despite reduced use of anthracyclines and cranial radiotherapy: results of trial ALL-BFM 90. German-Austrian-Swiss ALL-BFM Study Group. Blood 2000;95: 3310-3322. (Pubitemid 30428458)
25. Moricke A, Reiter A, Zimmermann M, et al. Risk-adjusted therapy of acute lymphoblastic leukemia can decrease treatment burden and improve survival: treatment results of 2169 unselected pediatric and adolescent patients enrolled in the trial ALL-BFM 95. Blood 2008; 111:4477-4489.
26. ALL IC-BFM 2002-Trial Steering Committee. A randomized trial of the I-BFM-SG for management of childhood non-B acute lymphoblastic leukemia. 2002. Available from http://kdho.if2.cuni.cz/docs/ALL-IC-Committees.pdf, accessed on 1.12.2011.
27. Nathan DG, Orkin SH. Nathan and Oski's hematology of infancy and childhood. Boston: WB Saunders Company; 1998.
28. Siberry GK, Iannone R. The Harriet Lane handbook: a manual for pediatric house offi cers. St. Louis: Mosby; 2000.
29. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
30. Jazbec J, Aplenc R, Dolzan V, et al. GST polymorphisms and occurrence of second neoplasms after treatment of childhood leukemia. Leukemia 2003;17:2540-2542. (Pubitemid 38072601)
31. Grabar PB, Rojko S, Logar D, et al. Genetic determinants of methotrexate treatment in rheumatoid arthritis patients: a study of polymorphisms in the adenosine pathway. Ann Rheum Dis 2010;69:931-932.
32. Bohanec Grabar P, Logar D, Lestan B, et al. Genetic determinants of methotrexate toxicity in rheumatoid arthritis patients: a study of polymorphisms aff ecting methotrexate transport and folate metabolism. Eur J Clin Pharmacol 2008;64:1057-1068.
33. Uchida K, Hayashi K, Kawakami K, et al. Loss of heterozygosity at the thymidylate synthase (TS) locus on chromosome 18 aff ects tumor response and survival in individuals heterozygous for a 28-bp polymorphism in the TS gene. Clin Cancer Res 2004;10:433-439. (Pubitemid 38173979)
34. Cortina-Borja M, Smith AD, Combarros O, et al. The synergy factor: a statistic to measure interactions in complex diseases. BMC Res Notes 2009;2:105.
35. Leung W, Campana D, Yang J, et al. High success rate of hematopoietic cell transplantation regardless of donor source in children with very high-risk leukemia. Blood 2011;118:223-230.
36. Krajinovic M, Costea I, Primeau M, et al. Combining several polymorphisms of thymidylate synthase gene for pharmacogenetic analysis. Pharmacogenomics J 2005;5:374-380.
37. Petra BG, Janez J, Vita D. Gene-gene interactions in the folate metabolic pathway infl uence the risk for acute lymphoblastic leukemia in children. Leuk Lymphoma 2007;48:786-792.
38. Faganel Kotnik B, Grabnar I, Bohanec Grabar P, et al. 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.
39. Buitenkamp TD, Mathot RA, de Haas V, et al. Methotrexateinduced side eff ects are not due to diff erences in pharmacokinetics in children with Down syndrome and acute lymphoblastic leukemia. Haematologica 2010;95:1106-1113.
40. Joerger M, Huitema AD, Krahenbuhl S, et al. Methotrexate area under the curve is an important outcome predictor in patients with primary CNS lymphoma: a pharmacokinetic-pharmacodynamic analysis from the IELSG no. 20 trial. Br J Cancer 2010;102:673-677.
41. Wall AM, Gajjar A, Link A, et al. Individualized methotrexate dosing in children with relapsed acute lymphoblastic leukemia. Leukemia 2000;14:221-225. (Pubitemid 30095374)
42. Huang L, Tissing WJ, de Jonge R, et al. Polymorphisms in folaterelated genes: association with side eff ects of high-dose methotrexate in childhood acute lymphoblastic leukemia. Leukemia 2008;22: 1798-1800.
43. Liu SG, Li ZG, Cui L, et al. Eff ects 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.
44. Speletas M, Papadopoulos N, Daiou C, et al. Relationship between 5,10-methylenetetrahydrofolate reductase C677T gene polymorphism and methotrexate related toxicity in patients with autoimmune diseases receiving folic acid supplementation. Ann Rheum Dis 2005;64: 1791-1792. (Pubitemid 41667161)
45. Shimasaki N, Mori T, Samejima H, et al. Eff ects 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 2006;28:64-68.
46. Kishi S, Cheng C, French D, et al. Ancestry and pharmacogenetics of antileukemic drug toxicity. Blood 2007;109:4151-4157. (Pubitemid 46743376)
47. Marcuello E, Altes A, del Rio E, et al. Single nucleotide polymorphism in the 5 ? tandem repeat sequences of thymidylate synthase gene predicts for response to fl uorouracil-based chemotherapy in advanced colorectal cancer patients. Int J Cancer 2004;112:733-737. (Pubitemid 39435256)
48. Bunni M, Doig MT, Donato H, et al. Role of methylenetetrahydrofolate depletion in methotrexate-mediated intracellular thymidylate synthesis inhibition in cultured L1210 cells. Cancer Res 1988;48:3398-3404.
49. van Ede AE, Laan RF, Blom HJ, et al. The C677T mutation in the methylenetetrahydrofolate reductase gene: a genetic risk factor for methotrexate-related elevation of liver enzymes in rheumatoid arthritis patients. Arthritis Rheum 2001;44:2525-2530. (Pubitemid 33049330)
50. Lauten M, Asgedom G, Welte K, et al. Th ymidylate synthase gene polymorphism and its association with relapse in childhood B-cell precursor acute lymphoblastic leukemia. Haematologica 2003;88: 353-354. (Pubitemid 36358728)
51. Vidan-Jeras B, Jurca B, Dolzan V, et al. Slovenian Caucasian normal. In: Terasaki PI, Gjerston DW, editors. HLA 1998. Lenexa: American Society for Histocompatibility and Immunogenetics; 1998. pp. 180 - 181.