The glucocorticoid receptor gene polymorphism N363S predisposes to more severe toxic side effects during pediatric acute lymphoblastic leukemia (ALL) therapy

International Journal of Hematology

Volumn 97, Issue 2, 2013, Pages 216-222

  Eipel, O T ^a   Nemeth K ^a   Torok D ^a   Csordas K ^a   Hegyi, M ^a   Ponyi, A ^a   Ferenczy, A ^a   Erdelyi D J ^a   Csoka M ^a   Kovacs G T ^a  

^a SEMMELWEIS UNIVERSITY   (Hungary)

Author keywords

Acute lymphoid leukemia; Glucocorticoid receptor; Individualized therapy; Single nucleotide polymorphism; Steroid related toxicities

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; BILIRUBIN; DEXAMETHASONE; GLUCOCORTICOID RECEPTOR; GLUCOSE; PREDNISONE; ANTINEOPLASTIC AGENT; GLUCOCORTICOID;

ACUTE LYMPHOBLASTIC LEUKEMIA; ADOLESCENT; ADULT; AGE; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALLELE; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BILIRUBIN BLOOD LEVEL; BRAIN DISEASE; CANCER CHEMOTHERAPY; CANCER PATIENT; CANCER RECURRENCE; CANCER SURVIVAL; CHILD; COMA; CONTROLLED STUDY; DIABETES MELLITUS; DNA POLYMORPHISM; DRUG DOSE REDUCTION; DRUG MEGADOSE; EVENT FREE SURVIVAL; FEMALE; GENDER; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC PREDISPOSITION; GENOTYPE; GLUCOSE METABOLISM; GLUCOSURIA; HETEROZYGOTE; HUMAN; HYPERGLYCEMIA; HYPERTENSION; LIVER TOXICITY; MAJOR CLINICAL STUDY; MALE; METABOLIC DISORDER; PARESIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PSYCHOSIS; RETROSPECTIVE STUDY; SCHOOL CHILD; SEIZURE; TREATMENT RESPONSE; WILD TYPE; GENETIC POLYMORPHISM; GENETICS; INFANT; MORTALITY;

ADOLESCENT; ANTINEOPLASTIC AGENTS; ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; CHILD; CHILD, PRESCHOOL; FEMALE; GENOTYPE; GLUCOCORTICOIDS; HUMANS; INFANT; MALE; POLYMORPHISM, GENETIC; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; RECEPTORS, GLUCOCORTICOID;

EID: 84887587736     PISSN: 09255710     EISSN: 18653774     Source Type: Journal    
DOI: 10.1007/s12185-012-1236-1     Document Type: Article

References (53)

1. Schiffman JD, Wang Y. McPherson, et al. Molecular inversion probes reveal patterns of 9p21 deletion and copy number aberrations in childhood leukemia. Cancer Genet Cytogenet. 2009;193:9-18.
2. Lee-Sherick AB, Linger RM, Gore L, et al. Targeting paediatric acute lymphoblastic leukaemia: novel therapies currently in development. Br J Haematol. 2010;151:295-311.
3. Mussai F, Campana D, Bhojwani D, et al. Cytotoxicity of the anti-CD22 immunotoxin HA22 (CAT-8015) against paediatric acute lymphoblastic leukaemia. Br J Haematol. 2010;150:352-8.
4. Stanulla M, Schrauder A. Bridging the gap between the north and south of the world: The case of treatment response in childhood acute lymphoblastic leukemia. Haematol Hematol J. 2009;94: 748-52.
5. Tissing WJE, Meijerink JPP, den Boer ML, et al. Genetic variations in the glucocorticoid receptor gene are not related to glucocorticoid resistance in childhood acute lymphoblastic leukemia. Clin Cancer Res. 2005;11:6050-6.
6. Lauten M, Stanulla M, Zimmermann M, et al. Clinical outcome of patients with childhood acute lymphoblastic leukaemia and an initial leukaemic blood blast count of less than 1000 per microliter. Klin Padiatr. 2001;213:169-74.
7. Schrappe M, Reiter A, Zimmermann M, 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.
8. McNeer JL, Nachman JB. The optimal use of steroids in paediatric acute lymphoblastic leukaemia: no easy answers. Br J Haematol. 2010;149:638-52.
9. Maltese P, Canestrariai E, Palma L, et al. High resolution melting (HRM) analysis for the detection of ER22/23EK, BclI, and N363S polymorphisms of the glucocorticoid receptor gene. J Steroid Biochem Mol Biol. 2009;113:269-74.
10. van Winsen LML, Manenschijn L, van Rossum EFC, et al. A glucocorticoid receptor gene haplotype (TthIII1/ER22/23EK/9 beta) is associated with a more aggressive disease course in multiple sclerosis. J Clin Endocrinol Metab. 2009;94:2110-4.
11. Russcher H, Smit P, Van den Akker ELT, et al. Two polymorphisms in the glucocorticoid receptor gene directly affect glucocorticoid- regulated gene expression. J Clin Endocrinol Metab. 2005;90:5804-10.
12. Marti A, Ochoa MC, et al. Meta-analysis on the effect of the N363S polymorphism of the glucocorticoid receptor gene (GRL) on human obesity. Bmc Medical Genetics. 2006;7:50.
13. Rosmond R, Chagnon YC, Holm G, et al. A glucocorticoid receptor gene marker is associated with abdominal obesity, leptin, and dysregulation of the hypothalamic-pituitary-adrenal axis. Obes Res. 2000;8:211-8.
14. Buemann B, Vohl MC, Chagnon M, et al. Abdominal visceral fat is associated with a BclI restriction fragment length polymorphism at the glucocorticoid receptor gene locus. Obes Res. 1997;5:186-92.
15. Weaver JU, Hitman GA, Kopelman PG. An association between a Bc1I restriction fragment length polymorphism of the glucocorticoid receptor locus and hyperinsulinemia in obese women. J Mol Endocrinol. 1992;9:295-300.
16. Cercato C, Halpern A, Frazzatto ES, et al. The N363S polymorphism in the glucocorticoid receptor gene: effects on visceral fat assessed by abdominal computed tomography. Arq Bras Endocrinol Metabol. 2009;53:288-92.
17. Koeijvoets KC, van der Net JB, van Rossum EF, et al. Two common haplotypes of the glucocorticoid receptor gene are associated with increased susceptibility to cardiovascular disease in men with familial hypercholesterolemia. J Clin Endocrinol Metab. 2008;93:4902-8.
18. Kuningas M, Mooijaart SP, Slagboom PE, et al. Genetic variants in the glucocorticoid receptor gene (NR3C1) and cardiovascular disease risk. The Leiden 85-plus Study. Biogerontology. 2006;7:231-8.
19. Watt GC, Harrap SB, Foy CJ, et al. Abnormalities of glucocorticoid metabolism and the renin-angiotensin system: A four-corners approach to the identification of genetic determinants of blood pressure. J Hypertens. 1992;10:473-82.
20. Derijk RH, Schaaf MJ, Turner G, 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.
21. Sanchez R, Levy E, Costea F, et al. IL-10 and TNF-alpha promoter haplotypes are associated with childhood Crohn's disease location. World J Gastroenterol. 2009;15:3776-82.
22. Derijk RH. Single nucleotide polymorphisms related to HPA axis reactivity. Neuro Immuno Modulation. 2009;16:340-52.
23. Manenschijn L, vandenAkker EL, Lamberts SW, et al. Clinical features associated with glucocorticoid receptor polymorphisms: An overview. Ann N Y Acad Sci. 2009;1179:179-98.
24. Kumsta R, Entringer S, Koper JW, et al. Glucocorticoid receptor gene polymorphisms and glucocorticoid sensitivity of subdermal blood vessels and leukocytes. Biol Psychol. 2008;79:179-84.
25. Derijk RH, de Kloet ER. Corticosteroid receptor polymorphisms: determinants of vulnerability and resilience. Eur J Pharmacol. 2008;583:303-11.
26. Roussel R, Reis AF, Dubois-Laforgue D, et al. The N363S polymorphism in the glucocorticoid receptor gene is associated with overweight in subjects with type 2 diabetes mellitus. Clin Endocrinol (Oxf). 2003;59:237-41.
27. Buemann B, Black E, Holst C, et al. The N363S polymorphism of the glucocorticoid receptor and metabolic syndrome factors in men. Obes Res. 2005;13:862-7.
28. Di Blasio AM, van Rossum EF, Maestrini S, et al. The relation between two polymorphisms in the glucocorticoid receptor gene and body mass index, blood pressure and cholesterol in obese patients. Clin Endocrinol (Oxf). 2003;59:68-74.
29. Lin RC, Wang XL, Dalziel B, et al. Association of obesity, but not diabetes or hypertension, with glucocorticoid receptor N363S variant. Obes Res. 2003;11:802-8.
30. Lin RC, Wang XL, Morris BJ. Association of coronary artery disease with glucocorticoid receptor N363S variant. Hypertension. 2003;41:404-7.
31. Luczay A, Torok D, Ferenczi A, et al. Potential advantage of N363S glucocorticoid receptor polymorphism in 21-hydroxylase deficiency. Eur J Endocrinol. 2006;154:859-64.
32. Szabo V, Borgulya G, Filkorn T, et al. The variant N363S of glucocorticoid receptor in steroid-induced ocular hypertension in Hungarian patients treated with photorefractive keratectomy. Mol Vis. 2007;13:659-66.
33. Bonifati DM, Witchel SF, Ermani M, et al. The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy. J Neurol Neurosurg Psychiatry. 2006;77:1177-9.
34. Liu Q, Thorland EC, Heit JA, et al. Overlapping PCR for bidirectional PCR amplification of specific alleles: A rapid one-tube method for simultaneously differentiating homozygotes and heterozygotes. Genome Res. 1997;7:389-98.
35. 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 ALLBFM 90. German-Austrian-Swiss ALL-BFM Study Group. Blood. 2000;95:3310-22.
36. Strolin MB, Baltes EL. Drug metabolism and disposition in children. Fundam Clin Pharmacol. 2003;17:281-99.
37. Rodriguez S, Gaunt TR, Day IN. Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies. Am J Epidemiol. 2009;169:505-14.
38. Huizenga NA, Koper JW, De Lange P, et al. A polymorphism in the glucocorticoid receptor gene may be associated with and increased sensitivity to glucocorticoids in vivo. J Clin Endocrinol Metab. 1998;83:144-51.
39. Lin RC, Wang WY, Morris BJ. Association and linkage analyses of glucocorticoid receptor gene markers in essential hypertension. Hypertension. 1999;34:1186-92.
40. Syed AA, Irving JA, Redfern CP, et al. Low prevalence of the N363S polymorphism of the glucocorticoid receptor in South Asians living in the United Kingdom. J Clin Endocrinol Metab. 2004;89:232-5.
41. Echwald SM, Sorensen TI, Andersen T, et al. The Asn363Ser variant of the glucocorticoid receptor gene is not associated with obesity or weight gain in Danish men. Int J Obes Relat Metab Disord. 2001;25:1563-5.
42. Rosmond R. Letter: Glucocorticoid receptor N363S variant in obesity: comes into vanity and goes into darkness. Obes Res. 2003;11:1606-7. author reply 1607-1609.
43. Dobson MG, Redfern CP, Unwin N, et al. The N363S polymorphism of the glucocorticoid receptor: potential contribution to central obesity in men and lack of association with other risk factors for coronary heart disease and diabetes mellitus. J Clin Endocrinol Metab. 2001;86:2270-4.
44. Wust S, Van Rossum EF, Federenko IS, et al. Common polymorphisms in the glucocorticoid receptor gene are associated with adrenocortical responses to psychosocial stress. J Clin Endocrinol Metab. 2004;89:565-73.
45. Majnik J, Patocs A, Balogh K, et al. Overrepresentation of the N363S variant of the glucocorticoid receptor gene in patients with bilateral adrenal incidentalomas. J Clin Endocrinol Metab. 2006;91:2796-9.
46. Whitworth JA, Gordon D, Andrews J, et al. The hypertensive effect of synthetic glucocorticoids in man: role of sodium and volume. J Hypertens. 1989;7:537-49.
47. Kelly JJ, Martin A, Whitworth JA. Role of erythropoietin in cortisol-induced hypertension. J Hum Hypertens. 2000;14:195-8.
48. Klett C, Hellmann W, Suzuki F. Induction of angiotensinogen mRNA in hepatocytes by angiotensin II and glucocorticoids. Clin Exp Hypertens A. 1988;10:1009-22.
49. Pirpiris M, Sudhir K, Yeung S, et al. Pressor responsiveness in corticosteroid-induced hypertension in humans. Hypertension. 1992;19:567-74.
50. Felder-Puig R, Scherzer C, Baumgartner M, et al. Glucocorticoids in the treatment of children with acute lymphoblastic leukemia and Hodgkin's disease: A pilot study on the adverse psychological reactions and possible associations with neurobiological, endocrine, and genetic markers. Clin Cancer Res. 2007;13:7093-100.
51. Kumsta R, Entringer S, Koper JW, et al. Sex specific associations between common glucocorticoid receptor gene variants and hypothalamus-pituitary-adrenal axis responses to psychosocial stress. Biol Psychiatry. 2007;62:863-9.
52. van Rossum EF, Binder EB, Majer M, et al. Polymorphisms of the glucocorticoid receptor gene and major depression. Biol Psychiatry. 2006;59:681-8.
53. De Rijk R, de Kloet ER. Corticosteroid receptor genetic polymorphisms and stress responsivity. Endocrine. 2005;28:263-70.