Bim polymorphisms: Influence on function and response to treatment in children with acute lymphoblastic leukemia

Clinical Cancer Research

Volumn 19, Issue 18, 2013, Pages 5240-5249

  Gagné, Vincent ^a   Rousseau, Julie ^a   Labuda, Malgorzata ^a   Sharif Askari, Bahram ^a   Brukner, Ivan ^d   Laverdière, Caroline ^a,b   Ceppi, Francesco ^a   Sallan, Stephen E ^b,f   Silverman, Lewis B ^b,f   Neuberg, Donna ^e   Kutok, Jeffery L ^g   Sinnett, Daniel ^a,b   Krajinovic, Maja ^a,b,c  

^a UNIVERSITY OF MONTREAL   (Canada)

^b Department of Pediatrics ^*  (United States)

^c UNIVERSITÉ DE MONTRÉAL   (Canada)

^d MCGILL UNIVERSITY   (Canada)

^e DANA FARBER CANCER INSTITUTE   (United States)

^f BOSTON CHILDREN S HOSPITAL   (United States)

^g BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BH3 PROTEIN; BIM PROTEIN; DEXAMETHASONE; MESSENGER RNA; PREDNISONE;

ACUTE LYMPHOBLASTIC LEUKEMIA; APOPTOSIS; ARTICLE; BIM GENE; CANCER PROGNOSIS; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; EVENT FREE SURVIVAL; FEMALE; GENE; GENE EXPRESSION; GENE LOCATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; HIGH RISK PATIENT; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MCL GENE; NUCLEOTIDE SEQUENCE; OVERALL SURVIVAL; PRIORITY JOURNAL; RNA ANALYSIS; SCHOOL CHILD; TREATMENT RESPONSE;

ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; APOPTOSIS; APOPTOSIS REGULATORY PROTEINS; BLOTTING, WESTERN; CELL PROLIFERATION; CHILD; COHORT STUDIES; DEXAMETHASONE; DRUG RESISTANCE, NEOPLASM; FEMALE; FOLLOW-UP STUDIES; HUMANS; MALE; MEMBRANE PROTEINS; NEOPLASM STAGING; POLYMORPHISM, GENETIC; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; PREDNISONE; PROGNOSIS; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-BCL-2; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SURVIVAL RATE;

EID: 84884552124     PISSN: 10780432     EISSN: 15573265     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-13-1215     Document Type: Article

References (54)

1. Pui CH, Relling MV, Downing JR. Acute lymphoblastic leukemia. N Engl J Med 2004;350:1535-48.
2. Silverman LB, Stevenson KE, O'Brien JE, Asselin BL, Barr RD, Clavell L, et al. Long-term results of Dana-Farber Cancer Institute ALL Consortium protocols for children with newly diagnosed acute lymphoblastic leukemia (1985-2000). Leukemia 2010;24:320-34.
3. Pui CH, Robison LL, Look AT. Acute lymphoblastic leukaemia. Lancet 2008;371:1030-43.
4. Geley S, Fiegl M, Hartmann BL, Kofler R. Genes mediating glucocorticoid effects and mechanisms of their regulation. Rev Physiol Biochem Pharmacol 1996;128:1-97.
5. Schlossmacher G, Stevens A, White A. Glucocorticoid receptor-mediated apoptosis: mechanisms of resistance in cancer cells. J Endocrinol 2011;211:17-25.
6. Gaynon PS, Carrel AL. Glucocorticosteroid therapy in childhood acute lymphoblastic leukemia. Adv Exp Med Biol 1999;457:593-605.
7. Kofler R. The molecular basis of glucocorticoid-induced apoptosis of lymphoblastic leukemia cells. Histochem Cell Biol 2000;114:1-7.
8. Tissing WJ, Meijerink JP, den Boer ML, Pieters R. Molecular determinants of glucocorticoid sensitivity and resistance in acute lymphoblastic leukemia. Leukemia 2003;17:17-25.
9. Labuda M, Gahier A, Gagne V, Moghrabi A, Sinnett D, Krajinovic M. Polymorphisms in glucocorticoid receptor gene and the outcome of childhood acute lymphoblastic leukemia (ALL). Leuk Res 2010;34:492-7.
10. Kay P, Schlossmacher G, Matthews L, Sommer P, Singh D, White A, et al. Loss of glucocorticoid receptor expression by DNA methylation prevents glucocorticoid induced apoptosis in human small cell lung cancer cells. PLoS One 2011;6:e24839.
11. Gautier C, Negrerie M, Wang ZQ, Lambry JC, Stuehr DJ, Collin F, et al. Dynamic regulation of the inducible nitric-oxide synthase by NO: comparison with the endothelial isoform. J Biol Chem 2004;279:4358-65.
12. Thompson EB, Johnson BH. Regulation of a distinctive set of genes in glucocorticoid-evoked apoptosis in CEM human lymphoid cells. Recent Prog Horm Res 2003;58:175-97.
13. Schmidt S, Rainer J, Riml S, Ploner C, Jesacher S, Achmuller C, et al. Identification of glucocorticoid-response genes in children with acute lymphoblastic leukemia. Blood 2006;107:2061-9.
14. Miller AL, Komak S, Webb MS, Leiter EH, Thompson EB. Gene expression profiling of leukemic cells and primary thymocytes predicts a signature for apoptotic sensitivity to glucocorticoids. Cancer Cell Int 2007;7:18.
15. Abrams MT, Robertson NM, Yoon K, Wickstrom E. Inhibition of glucocorticoid-induced apoptosis by targeting the major splice variants of BIM mRNA with small interfering RNA and short hairpin RNA. J Biol Chem 2004;279:55809-17.
16. Wang Z, Malone MH, He H, McColl KS, Distelhorst CW. Microarray analysis uncovers the induction of the proapoptotic BH3-only protein Bim in multiple models of glucocorticoid-induced apoptosis. J Biol Chem 2003;278:23861-7.
17. Youle RJ, Strasser A. The BCL-2 protein family: opposing activities that mediate cell death. Nat Rev Mol Cell Biol 2008;9:47-59.
18. Huang DC, Strasser A. BH3-Only proteins-essential initiators of apoptotic cell death. Cell 2000;103:839-42.
19. Bachmann PS, Gorman R, Mackenzie KL, Lutze-Mann L, Lock RB. Dexamethasone resistance in B-cell precursor childhood acute lymphoblastic leukemia occurs downstream of ligand-induced nuclear translocation of the glucocorticoid receptor. Blood 2005;105:2519-26.
20. Bachmann PS, Gorman R, Papa RA, Bardell JE, Ford J, Kees UR, et al. Divergent mechanisms of glucocorticoid resistance in experimental models of pediatric acute lymphoblastic leukemia. Cancer Res 2007;67:4482-90.
21. Ploner C, Rainer J, Niederegger H, Eduardoff M, Villunger A, Geley S, et al. The BCL2 rheostat in glucocorticoid-induced apoptosis of acute lymphoblastic leukemia. Leukemia 2008;22:370-7.
22. Moghrabi A, Levy DE, Asselin B, Barr R, Clavell L, Hurwitz C, et al. Results of the Dana-Farber Cancer Institute ALL Consortium Protocol 95-01 for children with acute lymphoblastic leukemia. Blood 2007;109:896-904.
23. Vrooman LM, Stevenson KE, Supko JG, O'Brien J, Dahlberg SE, Asselin BL, et al. Postinduction dexamethasone and individualized dosing of Escherichia coli L-asparaginase each improve outcome of children and adolescents with newly diagnosed acute lymphoblastic leukemia: results from a randomized study-Dana-Farber Cancer Institute ALL Consortium Protocol 00-01. J Clin Oncol 2013;31:1202-10.
24. Dulucq S, St-Onge G, Gagne V, Ansari M, Sinnett D, Labuda D, et al. DNA variants in the dihydrofolate reductase gene and outcome in childhood ALL. Blood 2008;111:3692-700.
25. Rousseau J, Gagne V, Labuda M, Beaubois C, Sinnett D, Laverdiere C, et al. ATF5 polymorphisms influence ATF function and response to treatment in children with childhood acute lymphoblastic leukemia. Blood 2011;118:5883-90.
26. Labuda D, Krajinovic M, Richer C, Skoll A, Sinnett H, Yotova V, et al. Rapid detection of CYP1A1, CYP2D6, and NAT variants by multiplex polymerase chain reaction and allele-specific oligonucleotide assay. Anal Biochem 1999;275:84-92.
27. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001;68:978-89.
28. Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2 (-ΔΔC (T)) method. Methods 2001;25:402-8.
29. Anczukow O, Rosenberg AZ, Akerman M, Das S, Zhan L, Karni R, et al. The splicing factor SRSF1 regulates apoptosis and proliferation to promote mammary epithelial cell transformation. Nat Struct Mol Biol 2012;19:220-8.
30. Kelly JL, Novak AJ, Fredericksen ZS, Liebow M, Ansell SM, Dogan A, et al. Germline variation in apoptosis pathway genes and risk of non-Hodgkin's lymphoma. Cancer Epidemiol Biomarkers Prev 2010;19:2847-58.
31. Miao J, Chen GG, Yun JP, Chun SY, Zheng ZZ, Ho RL, et al. Identification and characterization of BH3 domain protein Bim and its isoforms in human hepatocellular carcinomas. Apoptosis 2007;12:1691-701.
32. Lee PH, Shatkay H. F-SNP: computationally predicted functional SNPs for disease association studies. Nucleic Acids Res 2008;36:D820-4.
33. Ng KP, Hillmer AM, Chuah CT, Juan WC, Ko TK, Teo AS, et al. A common BIM deletion polymorphism mediates intrinsic resistance and inferior responses to tyrosine kinase inhibitors in cancer. Nat Med 2012;18:521-8.
34. Paterson A, Mockridge CI, Adams JE, Krysov S, Potter KN, Duncombe AS, et al. Mechanisms and clinical significance of BIM phosphorylation in chronic lymphocytic leukemia. Blood 2012;119:1726-36.
35. Sanchez R, St-Cyr J, Lalonde ME, Healy J, Richer C, Gagné V, et al. Impact of promoter polymorphisms in key regulators of the intrinsic apoptosis pathway in childhood acute lymphoblastic leukemia outcome. Haematologica 2012.
36. Bouillet P, Metcalf D, Huang DC, Tarlinton DM, Kay TW, Kontgen F, et al. Proapoptotic Bcl-2 relative Bim required for certain apoptotic responses, leukocyte homeostasis, and to preclude autoimmunity. Science 1999;286:1735-8.
37. Egle A, Harris AW, Bouillet P, Cory S. Bim is a suppressor of Mycinduced mouse B cell leukemia. Proc Natl Acad Sci U S A 2004;101:6164-9.
38. Erlacher M, Michalak EM, Kelly PN, Labi V, Niederegger H, Coultas L, et al. BH3-only proteins Puma and Bim are rate-limiting for g-radiationand glucocorticoid-induced apoptosis of lymphoid cells in vivo. Blood 2005;106:4131-8.
39. Jiang N, Koh GS, Lim JY, Kham SK, Ariffin H, Chew FT, et al. BIM is a prognostic biomarker for early prednisolone response in pediatric acute lymphoblastic leukemia. Exp Hematol 2011;39:321-9, e1-3.
40. Hershko T, Ginsberg D. Up-regulation of Bcl-2 homology 3 (BH3)-only proteins by E2F1 mediates apoptosis. J Biol Chem 2004;279:8627-34.
41. Harada M, Pokrovskaja-Tamm K, Soderhall S, Heyman M, Grander D, Corcoran M. Involvement of miR17 pathway in glucocorticoid-induced cell death in pediatric acute lymphoblastic leukemia. Leuk Lymphoma 2012;53:2041-50.
42. Bachmann PS, Piazza RG, Janes ME, Wong NC, Davies C, Mogavero A, et al. Epigenetic silencing of BIM in glucocorticoid poor-responsive pediatric acute lymphoblastic leukemia, and its reversal by histone deacetylase inhibition. Blood 2010;116:3013-22.
43. Wang Z, Burge CB. Splicing regulation: from a parts list of regulatory elements to an integrated splicing code. RNA 2008;14:802-13.
44. Wang Z, Rolish ME, Yeo G, Tung V, Mawson M, Burge CB. Systematic identification and analysis of exonic splicing silencers. Cell 2004;119:831-45.
45. Jiang CC, Lai F, Tay KH, Croft A, Rizos H, Becker TM, et al. Apoptosis of human melanoma cells induced by inhibition of BRAFV600E involves preferential splicing of BimS. Cell Death Dis 2010;1:e69.
46. Jamil S, Wang SW, Bondy L, Mojtabavi S, Duronio V. Prevention of cytokine withdrawal-induced apoptosis by Mcl-1 requires interaction between Mcl-1 and Bim. Biochem Cell Biol 2010;88:809-18.
47. Roberts AW, Seymour JF, Brown JR, Wierda WG, Kipps TJ, Khaw SL, et al. Substantial susceptibility of chronic lymphocytic leukemia to BCL2 inhibition: results of a phase I study of navitoclax in patients with relapsed or refractory disease. J Clin Oncol 2012;30:488-96.
48. Jie HB, Sarvetnick N. The role of NK cells and NK cell receptors in autoimmune disease. Autoimmunity 2004;37:147-53.
49. Han J, Goldstein LA, Gastman BR, Rabinowich H. Interrelated roles for Mcl-1 and BIM in regulation of TRAIL-mediated mitochondrial apoptosis. J Biol Chem 2006;281:10153-63.
50. Bhojwani D, Kang H, Menezes RX, Yang W, Sather H, Moskowitz NP, et al. Gene expression signatures predictive of early response and outcome in high-risk childhood acute lymphoblastic leukemia: a Children's Oncology Group Study [corrected]. J Clin Oncol 2008;26:4376-84.
51. Morales AA, Kurtoglu M, Matulis SM, Liu J, Siefker D, Gutman DM, et al. Distribution of Bim determines Mcl-1 dependence or codependence with Bcl-xL/Bcl-2 in Mcl-1-expressing myeloma cells. Blood 2011;118:1329-39.
52. Kawedia JD, Kaste SC, Pei D, Panetta JC, Cai X, Cheng C, et al. Pharmacokinetic, pharmacodynamic, and pharmacogenetic determinants of osteonecrosis in children with acute lymphoblastic leukemia. Blood 2011;117:2340-7; quiz 556.
53. Pottier N, Yang W, Assem M, Panetta JC, Pei D, Paugh SW, et al. The SWI/SNF chromatin-remodeling complex and glucocorticoid resistance in acute lymphoblastic leukemia. J Natl Cancer Inst 2008;100:1792-803.
54. Bouillet P, Zhang LC, Huang DC, Webb GC, Bottema CD, Shore P, et al. Gene structure alternative splicing, and chromosomal localization of pro-apoptotic Bcl-2 relative Bim. Mamm Genome 2001;12:163-8.