Skip to main content
Have a personal or library account? Click to login
Pharmacogenomic markers of glucocorticoid response in the initial phase of remission induction therapy in childhood acute lymphoblastic leukemia Cover

Pharmacogenomic markers of glucocorticoid response in the initial phase of remission induction therapy in childhood acute lymphoblastic leukemia

Open Access
|Sep 2018

References

  1. Schrappe M, Reiter A, Zimmermann M, Harbott J, Ludwig WD, Henze G, et al. Long-term results of four consecutive trials in childhood ALL performed by the ALL-BFM study group from 1981 to 1995. Leukemia 2000; 14: 2205-22. 10.1038/sj.leu.2401973
  2. Pui C-H, Robison LL, Look AT. Acute lymphoblastic leukaemia. Lancet (London, England) 2008; 371: 1030-43. 10.1016/S0140-6736(08)60457-2
  3. Stary J, Zimmermann M, Campbell M, Castillo L, Dibar E, Donska S, et al. Intensive chemotherapy for childhood acute lymphoblastic leukemia: results of the randomized intercontinental trial ALL IC-BFM 2002. J clin Oncol 2014; 32: 174-84. 10.1200/JCO.2013.48.6522
  4. Rudin S, Marable M, Huang RS. The promise of pharmacogenomics in reducing toxicity during acute lymphoblastic leukemia maintenance treatment. Genomics, Proteomics, Bioinformatics 2017; 15: 82-93. 10.1016/j.gpb.2016.11.003
  5. Helmberg A, Auphan N, Caelles C, Karin M. Glucocorticoid-induced apoptosis of human leukemic cells is caused by the repressive function of the glucocorticoid receptor. EMBO J 1995; 14: 452-60.
  6. Campbell M. ALL IC-BFM 2009 a randomized trial of the I-BFM-SG for the management of childhood non-B acute lymphoblastic leukemia. 2009; 178.
  7. Schmidt S, Rainer J, Ploner C, Presul E, Riml S, Kofler R. Glucocorticoid-induced apoptosis and glucocorticoid resistance: molecular mechanisms and clinical relevance. Cell Death Differ 2004; 11: S45-55. 10.1038/sj.cdd.4401456
  8. Koper JW, Van Rossum EFC, Van Den Akker ELT. Glucocorticoid receptor polymorphisms and haplotypes and their expression in health and disease. Steroids 2014; 92: 62-73. 10.1016/j.steroids.2014.07.015
  9. DeRijk RH, Schaaf M, De Kloet ER. Glucocorticoid receptor variants: clinical implications. J Steroid Biochem Mol Biol 2002; 81: 103-22. 10.1016/S0960-0760(02)00062-6
  10. Eipel OT, Németh K, Török D, Csordás K, Hegyi M, Ponyi A, 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 2013; 97: 216-22. 10.1007/s12185-012-1236-1
  11. Tissing WJE. Genetic variations in the glucocorticoid receptor gene are not related to glucocorticoid resistance in childhood acute lymphoblastic leukemia. Clin Cancer Res 2005; 11: 6050-56. 10.1158/1078-0432.CCR-04-2097
  12. Xue L, Li C, Wang Y, Sun W, Ma C, He Y, et al. Single nucleotide polymorphisms in non-coding region of the glucocorticoid receptor gene and prednisone response in childhood acute lymphoblastic leukemia. Leuk Lymphoma 2015; 56: 1704-09. 10.3109/10428194.2014.951848
  13. Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: Exonic mutations that affect splicing. Nat Rev Genet 2002; 3: 285-98. 10.1038/nrg775
  14. Gross KL, Lu NZ, Cidlowski JA. Molecular mechanisms regulating glucocorticoid sensitivity and resistance. Mol Cell Endocrinol 2009; 300: 7-16. 10.1016/j.mce.2008.10.001.Molecular
  15. Zalewski G, Wasilewska A, Zoch-Zwierz W, Chyczewski L. Response to prednisone in relation to NR3C1 intron B polymorphisms in childhood nephrotic syndrome. Pediatr Nephrol 2008; 23: 1073-8. 10.1007/s00467-008-0772-7
  16. Schaaf MJM, Cidlowski JA. Molecular mechanisms of glucocorticoid action and resistance. J Steroid Biochem Mol Biol 2002; 83: 37-48. 10.1016/S0960-0760(02)00263-7
  17. Derijk RH, Schaaf MJ, Turner G, Datson Na, Vreugdenhil E, Cidlowski J, et al. A human glucocorticoid receptor gene variant that increases the stability of the glucocorticoid receptor beta-isoform mRNA is associated with rheumatoid arthritis. J Rheumatol 2001; 28: 2383-8.
  18. Vega L. 3. Role of glutathione S-transferase enzymes in toxicology, pharmacology and human disease. Pharmacological and Toxicological Aspects 2010; 661: 45-66.
  19. Homma H, Listowsky I. Identification of Yb-glutathione-S-transferase as a major rat liver protein labeled with dexamethasone 21-methanesulfonate. Proc Natl Acad Sci U S A 1985; 82: 7165-69. 10.2307/26329
  20. Johansson AS, Stenberg G, Widersten M, Mannervik B. Structure-activity relationships and thermal stability of human glutathione transferase P1-1 governed by the H-site residue 105. J Mol Biol 1998; 278: 687-98. 10.1006/jmbi.1998.1708
  21. Zubowska M, Zielińska E, Zmysłowska A, Bodalski J. [Increased frequency of A-G transition at exon 5 of GSTP1 as a genetic risk factor for acute childhood leukaemia]. [Polish]. Med Wieku Rozwoj 2004; 8: 245-57.
  22. Farrell RJ, Menconi MJ, Keates AC, Kelly CP. P-glycoprotein-170 inhibition significantly reduces cortisol and ciclosporin efflux from human intestinal epithelial cells and T lymphocytes. Aliment Pharmacol Ther 2002; 16: 1021-31. 10.1046/j.1365-2036.2002.01238.x
  23. Hoffmeyer S, Burk O, von Richter O, Arnold HP, Brockmöller 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 U S A 2000; 97: 3473-8. 10.1073/pnas.050585397
  24. Ambudkar SV, Dey S, Hrycyna CA, Ramachandra M, Pastan I, Gottesman MM. Biochemical, cellular, and pharmacological aspects of the multidrug transporter. Annu Rev Pharmacol Toxicol 1999; 39: 361-98. 10.1146/annurev.pharmtox.39.1.361
  25. Wasilewska A, Zoch-Zwierz W, Pietruczuk M, Zalewski G. Expression of P-glycoprotein in lymphocytes from children with nephrotic syndrome, depending on their steroid response. Pediatr Nephrol 2006; 21: 1274-80. 10.1007/s00467-006-0187-2
  26. Smith LK, Cidlowski JA. Glucocorticoid-induced apoptosis of healthy and malignant lymphocytes. Prog Brain Res 2010; 182: 1-30. 10.1016/S0079-6123(10)82001-1
  27. Meissner B, Stanulla M, Ludwig W-D, Harbott J, Möricke a, Welte K, et al. The GSTT1 deletion polymorphism is associated with initial response to glucocorticoids in childhood acute lymphoblastic leukemia. Leukemia 2004; 18: 1920-3. 10.1038/sj.leu.2403521
  28. Vaghela N, Anand IS, Trivedi DH, Jani M. Prognostic value of peripheral blood blast percentage on day 8 in long term cure in patients with ALL. World J Pharmacy Pharm Sci 2014; 3: 1839-47.
  29. Chen CL, Liu Q, Relling MV. Simultaneous characterization of glutathione S-transferase M1 and T1 polymorphisms by polymerase chain reaction in American whites and blacks. Pharmacogenetics 1996; 6: 187-91.
  30. Kurzawski M, Pawlik A, Górnik W, Droździk M. Frequency of common MDR1 gene variants in a Polish population. Pharmacol Rep 2006; 58: 35-40.
  31. Excoffier L, Lischer HEL. Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows. Mol Ecol Resour 2010; 10: 564-67. 10.1111/j.1755-0998.2010.02847.x
  32. Dokmanovic L, Urosevic J, Janic D, Jovanovic N, Petrucev B, Tosic N, 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 2006; 28: 800-06. 10.1097/01.ftd.0000249947.17676.92
  33. Jackson RK, Irving JAE, Veal GJ. Personalization of dexamethasone therapy in childhood acute lymphoblastic leukaemia. Br J Haematol 2016; 173: 13-24. 10.1111/bjh.13924
  34. Asselin BL. The right dose for the right patient. Blood 2012; 119: 1617-8. 10.1182/blood-2011-12-395855
  35. Labuda M, Gahier A, Gagné V, Moghrabi A, Sinnett D, Krajinovic M. Polymorphisms in glucocorticoid receptor gene and the outcome of childhood acute lymphoblastic leukemia (ALL). Leuk Res 2010; 34: 492-97. 10.1016/j.leukres.2009.08.007
  36. 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 2000; 95: 1222-8.
  37. Stanulla M, Schäffeler 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.
  38. Franca R, Rebora P, Basso G, Biondi A, Cazzaniga G, Crovella S, 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 2012; 13: 1905-16. 10.2217/pgs.12.169
  39. Longui CA, Vottero A, Adamson PC, Cole DE, Chrousos GP. Low glucocorticoid receptor alpha/beta ratio in T-ceII lymphoblastic leukemia. Horm Metab Res 2000; 32: 401-6. 10.1055/s-2007-978661
  40. Turner JD, Schote AB, Macedo JA, Pelascini LPL, Muller CP. Tissue specific glucocorticoid receptor expression, a role for alternative first exon usage? Biochem Pharmacol 2006; 72: 1529-37. 10.1016/j.bcp.2006.07.005
  41. Bamberger CM, Bamberger AM, De Castro M, Chrousos GP. Glucocorticoid receptor B, a potential endogenous inhibitor of glucocorticoid action in humans. J Clin Invest 1995; 95: 2435-41. 10.1172/JCI117943
  42. Koga Y, Matsuzaki A, Suminoe A, Hattori H, Kanemitsu S, Hara T. Differential mRNA expression of glucocorticoid receptor α and β is associated with glucocorticoid sensitivity of acute lymphoblastic leukemia in children. Pediatr Blood Cancer 2005; 45: 121-27. 10.1002/pbc.20308
  43. Teeninga N, Kist-Van Holthe JE, Van Den Akker ELT, Kersten MC, Boersma E, Krabbe HG, et al. Genetic and in vivo determinants of glucocorticoid sensitivity in relation to clinical outcome of childhood nephrotic syndrome. Kidney Int 2014; 85: 1444-53. 10.1038/ki.2013.531
  44. Kumsta R, Moser D, Streit F, Koper JW, Meyer J, Wüst S. Characterization of a glucocorticoid receptor gene (GR, NR3C1) promoter polymorphism reveals functionality and extends a haplotype with putative clinical relevance. Am J Med Genet B Neuropsychiatr Genet 2009; 150: 476-82. 10.1002/ajmg.b.30837
  45. Beger C, Gerdes K, Lauten M, Tissing WJE, Fernandez-Munoz I, Schrappe M, et al. Expression and structural analysis of glucocorticoid receptor isoform gamma in human leukaemia cells using an isoform-specific real-time polymerase chain reaction approach. Br J Haematol 2003; 122: 245-52. 10.1046/j.1365-2141.2003.04426.x
  46. Stevens A, Ray DW, Zeggini E, John S, Richards HL, Griffiths CEM, et al. Glucocorticoid sensitivity is determined by a specific glucocorticoid receptor haplotype. J Clin Endocrinol Metab 2004; 89: 892-97. 10.1210/jc.2003-031235
  47. Pearce KF, Balavarca Y, Norden J, Jackson G, Holler E, Dressel R, et al. Impact of genomic risk factors on survival after haematopoietic stem cell transplantation for patients with acute leukaemia. Int J Immunogenet 2016; 43: 404-12. 10.1111/iji.12295
  48. Anderer G, Schrappe M, Brechlin AM, Lauten M, Muti P, Welte K, et al. Polymorphisms within glutathione S-transferase genes and initial response to glucocorticoids in childhood acute lymphoblastic leukaemia. Pharmacogenetics 2000; 10: 715-26. 10.1097/00008571-200011000-00006
  49. Jafar T, Prasad N, Agarwal V, Mahdi A, Gupta A, Sharma RK, et al. MDR-1 gene polymorphisms in steroid-responsive versus steroid-resistant nephrotic syndrome in children. Nephro Dial Transplant 2011; 26: 3968-74. 10.1093/ndt/gfr150
  50. Wang D, Johnson AD, Papp AC, Kroetz DL, Sadée W. Multidrug resistance polypeptide 1 (MDR1, ABCB1) variant 3435C>T affects mRNA stability. Pharmacogenet Genomics 2005; 15: 693-704. 10.1097/01.fpc.0000178311.02878.83
  51. Xuan M, Li H, Fu R, Yang Y, Zhang D, Zhang X, et al. Association of ABCB1 gene polymorphisms and haplotypes with therapeutic efficacy of glucocorticoids in Chinese patients with immune thrombocytopenia. Hum Immunol 2014; 75: 317-21. 10.1016/j.humimm.2014.01.013
  52. Hunger SP, Mullighan CG. Acute lymphoblastic leukemia in children. N Engl J Med 2015; 373: 1541-52. 10.1056/NEJMra1400972
  53. Dokmanovic L, Milosevic G, Peric J, Tosic N, Krstovski N, Janic D, et al. Next generation sequencing as a tool for pharmacogenomic profiling: Nine novel potential genetic markers for targeted therapy in childhood acute lymphoblastic leukemia. Srp Arh Celok Lek 2017; 145: 194-94. 10.2298/SARH171003194D
DOI: https://doi.org/10.2478/raon-2018-0034 | Journal eISSN: 1581-3207 | Journal ISSN: 1318-2099
Language: English
Page range: 296 - 306
Submitted on: Feb 19, 2018
Accepted on: Apr 24, 2018
Published on: Sep 11, 2018
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year

© 2018 Vladimir Gasic, Branka Zukic, Biljana Stankovic, Dragana Janic, Lidija Dokmanovic, Jelena Lazic, Nada Krstovski, Vita Dolzan, Janez Jazbec, Sonja Pavlovic, Nikola Kotur, published by Association of Radiology and Oncology
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.