Synergistic interaction of ABCB1 and ABCG2 polymorphisms predicts the prevalence of toxic encephalopathy during anticancer chemotherapy

Pharmacogenomics Journal

Volumn 8, Issue 5, 2008, Pages 321-327

  Erdilyi, D J ^a   Kamory E ^b   Csokay B ^b   Andrikovics, H ^c   Tordai, A ^c   Kiss, C ^d   Filni Semsei, A ^a   Janszky, I ^e   Zalka, A ^b   Fekete, G ^a   Falus, A ^a   Kovacs G T ^a   Szalai, C ^f  

^a SEMMELWEIS UNIVERSITY   (Hungary)

^b Laborigo Molecular Diagnostics Ltd   (Hungary)

^c NATIONAL MEDICAL CENTER   (Hungary)

^d UNIVERSITY OF DEBRECEN   (Hungary)

^e KAROLINSKA INSTITUTE   (Sweden)

^f INSTITUTE OF EXPERIMENTAL MEDICINE   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

ANTHRACYCLINE; ASPARAGINASE; BREAST CANCER RESISTANCE PROTEIN; CYCLOPHOSPHAMIDE; CYTARABINE; DAUNORUBICIN; DEXAMETHASONE; DOXORUBICIN; DRUG CARRIER; MERCAPTOPURINE; METHOTREXATE; MULTIDRUG RESISTANCE PROTEIN 1; PREDNISONE; TIOGUANINE; VINCRISTINE;

ACUTE LYMPHOBLASTIC LEUKEMIA; ADOLESCENT; ADULT; ALLELE; ARTICLE; BLOOD BRAIN BARRIER; BRAIN TOXICITY; CANCER CHEMOTHERAPY; CHILD; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENETIC PREDISPOSITION; GENOTYPE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; PREDICTION; PREVALENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN POLYMORPHISM; PROTEIN TRANSPORT; RETROSPECTIVE STUDY; RISK ASSESSMENT;

ALLELES; ANTINEOPLASTIC AGENTS; ATP-BINDING CASSETTE TRANSPORTERS; CHILD, PRESCHOOL; COHORT STUDIES; EPISTASIS, GENETIC; FEMALE; GENE FREQUENCY; HUMANS; MALE; NEOPLASM PROTEINS; NEUROTOXICITY SYNDROMES; P-GLYCOPROTEIN; POLYMORPHISM, GENETIC; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; PREVALENCE;

EID: 52749088086     PISSN: 1470269X     EISSN: 14731150     Source Type: Journal    
DOI: 10.1038/sj.tpj.6500480     Document Type: Article

References (39)

1. Lee G, Bendayan R. Functional expression and localization of P-glycoprotein in the central nervous system: Relevance to the pathogenesis and treatment of neurological disorders. Pharm Res 2004; 21: 1313-1330.
2. Gutmann H, Hruz P, Zimmermann C, Beglinger C, Drewe J. Distribution of breast cancer resistance protein (BCRP/ABCG2) mRNA expression along the human GI tract. Biochem Pharmacol 2005; 70: 695-699.
3. Loscher W, Potschka H. Blood-brain barrier active efflux transporters: ATP-binding cassette gene family. NeuroRx 2005; 2: 86-98.
4. Zimmermann C, Gutmann H, Hruz P, Gutzwiller JP, Beglinger C, Drewe J. Mapping of multidrug resistance gene 1 and multidrug resistance-associated protein isoform 1-5 mRNA expression along the human intestinal tract. Drug Metab Dispos 2005; 33: 219-224.
5. Ito K, Suzuki H, Horie T, Sugiyama Y. Apical/basolateral surface expression of drug transporters and its role in vectorial drug transport. Pharm Res 2005; 22: 1559-1577.
6. Krishnamurthy P, Schuetz JD. Role of ABCG2/BCRP in biology and medicine. Annu Rev Pharmacol Toxicol 2006, 46: 381-410.
7. Schinkel AH, Wagenaar E, Van Deemter L, Mol CA, Borst P. Absence of the mdr1a P-glycoprotein in mice affects tissue distribution and pharmacokinetics of dexamethasone, digoxin, and cyclosporin A. J Clin Invest 1995; 96: 1698-1705.
8. Breedveld P, Pluim D, Cipriani G, Wielinga P, van Tellingen O, Schinkel AH et al. The effect of Bcrp1 (Abcg2) on the in vivo pharmacokinetics and brain penetration of imatinib mesylate (Gleevec): implications for the use of breast cancer resistance protein and P-glycoprotein inhibitors to enable the brain penetration of imatinib in patients. Cancer Res 2005; 65: 2577-2582.
9. Hoffmeyer S, Burk O, von Richter O, Arnold HP, Brockmoller J, Johne A et al. Functional polymorphisms of the human multidrug-resistance gene: Multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo. Proc Natl Acad Sci USA 2000; 97: 3473-3478.
10. Cascorbi I. Role of pharmacogenetics of ATP-binding cassette transporters in the pharmacokinetics of drugs. Pharmacol Ther 2006; 112: 457-473.
11. Wang D, Johnson AD, Papp AC, Kroetz DL, Sadee W. Multidrug resistance polypeptide 1 (MDR1, ABCB1) variant 3435C>T affects mRNA stability. Pharmacogenet Genomics 2005; 15: 693-704.
12. Imai Y, Nakane M, Kage K, Tsukahara S, Ishikawa E, Tsuruo T et al. C421A polymorphism in the human breast cancer resistance protein gene is associated with low expression of Q141 K protein and low-level drug resistance. Mol Cancer Ther 2002; 1: 611-616.
13. Mizuarai S, Aozasa N, Kotani H. Single nucleoticle polymorphisms result in impaired membrane localization and reduced ATPase activity in multidrug transporter ABCG2. Int J Cancer 2004; 109: 238-246.
14. Cervenak J, Andrikovics H, Ozvegy-Laczka C, Tordai A, Nemet K, Varadi A et al. The role of the human ABCG2 multidrug transporter and its variants in cancer therapy and toxicology. Cancer Lett 2006; 234: 62-72.
15. Sakaeda T. MDR1 genotype-related pharmacokinetics: Fact or fiction? Drug Metab Pharmacokinet 2005; 20: 391-414.
16. Torok S, Borgulya G, Schuler D. [Changes of the incidence and survival in pediatric malignant tumors between 1988-1997, according to the data of the Hungarian Pediatric Cancer Registry]. Orv Hetil 2001; 142: 1211-1215.
17. Schrappe M, Reiter A, Ludwig WD, Harbott I, Zimmermann M, Hiddemann W 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.
18. Illmer T, Schuler US, Thiede C, Schwarz UI, Kim RB, Gotthard S et al MDR1 gene polymorphisms affect therapy outcome in acute myeloid leukemia patients. Cancer Res 2002; 62: 4955-4962.
19. Kroetz DL, Pauli-Magnus C, Hodges LM, Huang CC, Kawamoto M, Johns SJ et al. Sequence diversity and haplotype structure in the human ABCB1 (MDR1, multidrug resistance transporter) gene. Pharmacogenetics 2003; 13: 481-494.
20. Kim RB. Drugs as P-glycoprotein substrates, inhibitors, and inducers. Drug Metab Rev 2002; 34: 47-54.
21. Kalmanchey R, Schuler D. [Neurologic complications of childhood malignancies]. Orv Hetil 1994; 135: 1739-1742.
22. Verstappen CC, Heimans JJ, Hoekman K, Postma TJ. Neurotoxic complications of chemotherapy in patients with cancer clinical signs and optimal management. Drugs 2003; 63: 1549-1563.
23. Norris MD, de Graaf D, Haber M, Kavallaris M, Madafiglio J, Gilbert J et al. Involvement of MDR1 P-glycoprotein in multifactorial resistance to methotrexate. Int J Cancer 1996; 65: 613-619.
24. Volk EL, Farley KM, Wu Y, Li F, Robey RW, Schneider E. Overexpression of wild-type breast cancer resistance protein mediates methotrexate resistance. Cancer Res 2002; 62: 5035-5040.
25. Ghersi-Egea JF, Leninger-Muller B, Suleman G, Siest G, Minn A. Localization of drug-metabolizing enzyme activities to blood-brain interfaces and circumventricular organs. J Neurochem 1994; 62 1089-1096.
26. Miksys SL, Tyndale RF. Drug-metabolizing cytochrome P450s in the brain. J Psychiatry Neurosci 2002; 27: 406-415.
27. Sagara J, Sugita Y. Characterization of cytosolic glutathione S-transferase in cultured astrocytes. Brain Res 2001; 902: 190-197.
28. Cammer W, Downing M, Clarke W, Schenkman JB. Immunocytochemical staining of the RLM6 form of cytochrome P450 in oligodendrocytes and myelin of rat brain. J Histochem Cytochem 1991; 39: 1089-1094.
29. Dennison JB, Kulanthaivel P, Barbuch RJ, Renbarger JL, Ehlhardt WJ, Hall SD. Selective metabolism of vincristine in vitro by CYP3A5. Drug Metab Dispos 2006; 34: 1317-1327.
30. Jamroziak K, Mlynarski W, Balcerczak E, Mistygacz M, Trelinska J, Mirowski M et al. Functional C3435T polymorphism of MDR1 gene: An impact on genetic susceptibility and clinical outcome of childhood acute lymphoblastic leukemia. Eur J Haematol 2004; 72: 314-321.
31. Rocha JC, Cheng C, Liu W, Kishi S, Das S, Cook EH et al. Pharmacogenetics of outcome in children with acute lymphoblastic leukemia. Blood 2005; 105: 4752-4758.
32. Seidel H, Andersen A, Kvaloy JT, Nygaard R, Moe PJ, Jacobsen G et al Variability in methotrexate serum and cerebrospinal fluid pharmaco-kinetics in children with acute lymphocytic leukemia: Relation to assay methodology and physiological variables. Leuk Res 2000; 24: 193-199.
33. Stanulla M, Schaffeler E, Arens S, Rathmann A, Schrauder A, Welte K et al. GSTP1 and MDR1 genotypes and central nervous system relapse in childhood acute lymphoblastic leukemia. Int J Hematol 2005; 81 39-44.
34. Schrappe M. Evolution of BFM trials for childhood ALL. Ann Hematol 2004; 83(Suppl 1): S121-S123.
35. Gwee PC, Tang K, Chua JM, Lee EJ, Chong SS, Lee CG. Simultaneous genotyping of seven single-nucleotide polymorphisms in the MDR1 gene by single-tube multiplex minisequencing. Clin Chem 2003; 49: 672-676.
36. Szilvasi A, Andrikovics H, Kalmar L, Bors A, Tordai A. Asymmetric PCR increases efficiency of melting peak analysis on the LightCycler. Clin Biochem 2005; 38: 727-730.
37. Paal K, Horvath J, Csaki C, Ferencz T, Schuler D, Borsi JD. Effect of etoposide on the pharmacokinetics of methotrexate in vivo. Anticancer Drugs 1998; 9: 765-772.
38. Rothman KJ. Modern Epidemiology, 1st edn. Little Brown: Boston, 1986.
39. Little RJ, Raghunathan T. On summary measures analysis of the linear mixed effects model for repeated measures when data are not missing completely at random. Stat Med 1999; 18: 2465-2478.