The association of reduced folate carrier 80G>A polymorphism to outcome in childhood acute lymphoblastic leukemia interacts with chromosome 21 copy number

Blood

Volumn 115, Issue 23, 2010, Pages 4671-4677

  Gregers, Jannie ^a,b   Christensen, Ib Jarle ^c   Dalhoff, Kim ^d   Lausen, Birgitte ^e   Schroeder, Henrik ^e   Rosthoej, Steen ^e   Carlsen, Niels ^f   Schmiegelow, Kjeld ^b   Peterson, Curt ^a  

^a LINKÖPING UNIVERSITY   (Sweden)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c FINSEN LABORATORY   (Denmark)

^d BISPEBJERG HOSPITAL   (Denmark)

^e University of Copenhagen   (Denmark)

^f ODENSE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ANTINEOPLASTIC AGENT; CARRIER PROTEIN; METHOTREXATE; REDUCED FOLATE CARRIER;

ACUTE LYMPHOBLASTIC LEUKEMIA; ADOLESCENT; ANEUPLOIDY; ARTICLE; CHILD; CHROMOSOME 21; CLINICAL TRIAL; COMPARATIVE STUDY; DRUG EFFECT; FEMALE; GENETICS; HUMAN; INFANT; MALE; METABOLISM; MORTALITY; PRESCHOOL CHILD; REMISSION; RETROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSPORT AT THE CELLULAR LEVEL;

ADOLESCENT; ANEUPLOIDY; ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; BIOLOGICAL TRANSPORT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 21; FEMALE; HUMANS; INFANT; MALE; MEMBRANE TRANSPORT PROTEINS; METHOTREXATE; POLYMORPHISM, SINGLE NUCLEOTIDE; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; REMISSION INDUCTION; RETROSPECTIVE STUDIES;

EID: 77954725578     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2010-01-256958     Document Type: Article

References (30)

1. Davidsen ML, Dalhoff K, Schmiegelow K. Pharmacogenetics influence treatment efficacy in childhood acute lymphoblastic leukemia. J Pediatr Hematol Oncol. 2008;30(11):831-849.
2. Estlin EJ. Continuing therapy for childhood acute lymphoblastic leukaemia: clinical and cellular pharmacology of methotrexate, 6-mercaptopurine and 6-thioguanine. Cancer Treat Rev. 2001;27:351-363. (Pubitemid 34413979)
3. Jolivet J, Cowan KH, Curt GA, Clendeninn NJ, Chabner BA. The pharmacology and clinical use of methotrexate. N Engl J Med. 1983;309(18):1094-1104.
4. Matherly LH, Taub JW. Molecular and cellular correlates of methotrexate response in childhood acute lymphoblastic leukemia. Leuk Lymphoma. 1999;35(1-2):1-20. (Pubitemid 29454399)
5. Longo-Sorbello GS, Bertino JR. Current understanding of methotrexate pharmacology and effi- cacy in acute leukemias: use of newer antifolates in clinical trials. Haematologica. 2001;86(2):121-127.
6. Schmiegelow K. Advances in individual prediction of methotrexate toxicity: a review. Br J Haematol. 2009;146(5):489-503.
7. Schornagel JH, McVie JG. The clinical pharmacology of methotrexate. Cancer Treat Rev. 1983;10(1):53-75.
8. Schroder H. In vivo methotrexate kinetics and metabolism in human hematopoietic cells: clinical significance of methotrexate concentrations in erythrocytes. Dan Med Bull. 1990;37(1):22-40. (Pubitemid 20123141)
9. Matherly LH. Molecular and cellular biology of the human reduced folate carrier. Prog Nucleic Acid Res Mol Biol. 2001;67:131-162. (Pubitemid 33804643)
10. Moscow JA. Methotrexate transport and resistance. Leuk Lymphoma. 1998;30(3-4):215-224.
11. 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. 2002;100(10):3832-3834. (Pubitemid 35303961)
12. Chango A, Emery-Fillon N, de Courcy GP, et al. A polymorphism (80G→A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia. Mol Genet Metab. 2000;70(4):310-315.
13. Whetstine JR, Gifford AJ, Witt T, et al. Single nucleotide polymorphisms in the human reduced folate carrier: characterization of a high-frequency G/A variant at position 80 and transport properties of the His(27) and Arg(27) carriers. Clin Cancer Res. 2001;7(11):3416-3422. (Pubitemid 33069975)
14. Baslund B, Gregers J, Nielsen CH. Reduced folate carrier polymorphism determines methotrexate uptake by B cells and CD4+ T cells. Rheumatology (Oxford). 2008;47(4):451-453.
15. Synold TW, Relling MV, Boyett JM, et al. Blast cell methotrexate- polyglutamate accumulation in vivo differs by lineage, ploidy, and methotrexate dose in acute lymphoblastic leukemia. J Clin Invest. 1994;94(5):1996-2001.
16. Whitehead VM, Vuchich MJ, Lauer SJ, et al. Accumulation of high levels of methotrexate polyglutamates in lymphoblasts from children with hyperdiploid (greater than 50 chromosomes) B-lineage acute lymphoblastic leukemia: a Pediatric Oncology Group study. Blood. 1992;80(5):1316-1323.
17. Taub JW, Ge Y. Down syndrome, drug metabolism and chromosome 21. Pediatr Blood Cancer. 2005;44(1):33-39. (Pubitemid 39602563)
18. Belkov VM, Krynetski EY, Schuetz JD, et al. Reduced folate carrier expression in acute lymphoblastic leukemia: a mechanism for ploidy but not lineage differences in methotrexate accumulation. Blood. 1999;93(5):1643-1650.
19. Zhang L, Taub JW, Williamson M, et al. Reduced-folate carrier gene expression in childhood acute lymphoblastic leukemia: relationship to immunophenotype and ploidy. Clin Cancer Res. 1998;4(9):2169-2177. (Pubitemid 28415664)
20. Dervieux T, Furst D, Lein DO, et al. Polyglutamation of methotrexate with common polymorphisms in reduced folate carrier, aminoimidazole carboxamide ribonucleotide transformylase, and thymidylate synthase are associated with methotrexate effects in rheumatoid arthritis. Arthritis Rheum. 2004;50(9):2766-2774. (Pubitemid 39209513)
21. Drozdzik M, Rudas T, Pawlik A, Gornik W, Kurzawski M, Herczynska M. Reduced folate carrier-1 80G>A polymorphism affects methotrexate treatment outcome in rheumatoid arthritis. Pharmacogenomics J. 2007;7:404-407. (Pubitemid 350192886)
22. Rocha JC, Cheng C, Liu W, et al. Pharmacogenetics of outcome in children with acute lymphoblastic leukemia. Blood. 2005;105(12):4752-4758. (Pubitemid 40807300)
23. Gustafsson G, Schmiegelow K, Forestier E, et al. Improving outcome through two decades in childhood ALL in the Nordic countries: the impact of high-dose methotrexate in the reduction of CNS irradiation: Nordic Society of Pediatric Haematology and Oncology (NOPHO). Leukemia. 2000;14(12):2267-2275.
24. Skarby TV, Anderson H, Heldrup J, Kanerva JA, Seidel H, Schmiegelow K. High leucovorin doses during high-dose methotrexate treatment may reduce the cure rate in childhood acute lymphoblastic leukemia. Leukemia. 2006;20(11):1955-1962. (Pubitemid 44614884)
25. Forestier E, Heyman M, Andersen MK, et al. Outcome of ETV6/RUNX1-positive childhood acute lymphoblastic leukaemia in the NOPHO-ALL-1992 protocol: frequent late relapses but good overall survival. Br J Haematol. 2008;140(6):665-672.
26. Mitelmann F. An International System for Human Cytogenetic Nomenclature. Basel, Switzerland: S. Kager AG; 1994.
27. Levy AS, Sather HN, Steinherz PG, et al. Reduced folate carrier and dihydrofolate reductase expression in acute lymphocytic leukemia may predict outcome: a Children's Cancer Group Study. J Pediatr Hematol Oncol. 2003;25(9):688-695.
28. Jansen G, Mauritz R, Drori S, et al. A structurally altered human reduced folate carrier with increased folic acid transport mediates a novel mechanism of antifolate resistance. J Biol Chem. 1998;273(46):30189-30198. (Pubitemid 28545482)
29. de Jonge R, Tissing WJ, Hooijberg JH, et al. Polymorphisms in folate-related genes and risk of pediatric acute lymphoblastic leukemia. Blood. 2009;113(10):2284-2289.
30. Schmiegelow K, Forestier E, Kristinsson J, et al. Thiopurine methyltransferase activity is related to the risk of relapse of childhood acute lymphoblastic leukemia: results from the NOPHO ALL-92 study. Leukemia. 2009;23(3):557-564.