A novel type of p53 pathway dysfunction in chronic lymphocytic leukemia resulting from two interacting single nucleotide polymorphisms within the p21 gene

Cancer Research

Volumn 69, Issue 12, 2009, Pages 5210-5217

  Johnson, Gillian G ^a,b   Sherrington, Paul D ^a,b   Carter, Anthony ^a   Lin, Ke ^a,b   Liloglou, Triantafillos ^a   Field, John K ^a   Pettitt, Andrew R ^a,b  

^a UNIVERSITY OF LIVERPOOL   (United Kingdom)

^b ROYAL LIVERPOOL UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROTEIN MDM2; PROTEIN P21; PROTEIN P53;

3' UNTRANSLATED REGION; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CANCER RESISTANCE; CELL KILLING; CHRONIC LYMPHATIC LEUKEMIA; CODON; CONTROLLED STUDY; FEMALE; GENE EXPRESSION REGULATION; GENE FREQUENCY; HUMAN; HUMAN CELL; IMMUNOGLOBULIN HEAVY CHAIN GENE; IONIZING RADIATION; LEUKEMIA CELL; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR SUPPRESSOR GENE; UPREGULATION;

BASE SEQUENCE; CYCLIN-DEPENDENT KINASE INHIBITOR P21; DNA PRIMERS; HUMANS; LEUKEMIA, LYMPHOCYTIC, CHRONIC, B-CELL; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA, MESSENGER; TUMOR SUPPRESSOR PROTEIN P53;

EID: 67449149945     PISSN: 00085472     EISSN: 15387445     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-09-0627     Document Type: Article

References (57)

1. Chiorazzi N, Rai K, Ferrarini M. Chronic lymphocytic leukemia. N Engl J Med 2005;352:804-815 (Pubitemid 40271175)
2. Damle RN, Wasil T, Fais F, et al. Ig V gene mutation status and CD38 expression as novel prognostic indicators in chronic lymphocytic leukemia. Blood 1999;94:1840-1847 (Pubitemid 29430399)
3. Hamblin TJ, Davis Z, Gardiner A, Oscier DG, Stevenson FK. Unmutated Ig V(H) genes are associated with a more aggressive form of chronic lymphocytic leukemia. Blood 1999;94:1848-1854.
4. Crespo M, Bosch F, Villamor N, et al. ZAP-70 expression as a surrogate for immunoglobulin-variable-region mutations in chronic lymphocytic leukemia. N Engl J Med 2003;348:1764-1775 (Pubitemid 36514707)
5. Dürig J, Nückel H, Cremer M, et al. ZAP-70 expression is a prognostic factor in chronic lymphocytic leukemia. Leukemia 2003;17:2426-2434 (Pubitemid 38072581)
6. Orchard JA, Ibbotson RE, Davis Z, et al. ZAP-70 expression and prognosis in chronic lymphocytic leukaemia. Lancet 2004;363:105-111 (Pubitemid 38068326)
7. Dohner H, Stilgenbauer S, Benner A, et al. Genomic aberrations and survival in chronic lymphocytic leukemia. N Engl J Med 2000;343:1910-1916 (Pubitemid 32064784)
8. el Rouby S, Thomas A, Costin D, et al. p53 gene mutation in B-cell chronic lymphocytic leukemia is associated with drug resistance and is independent of MDR1/MDR3 gene expression. Blood 1993;82:3452-3459 (Pubitemid 23356719)
9. Wattel E, Preudhomme C, Hecquet B, et al. p53 mutations are associated with resistance to chemotherapy and short survival in hematologic malignancies. Blood 1994;84:3148-3157 (Pubitemid 2153854)
10. Döhner H, Fischer K, Bentz M, et al. p53 gene deletion predicts for poor survival and non-response to therapy with purine analogs in chronic B-cell leukemias. Blood 1995;85:1580-1589
11. Kröber A, Seiler T, Benner A, et al. V(H) mutation status, CD38 expression level, genomic aberrations, and survival in chronic lymphocytic leukemia. Blood 2002;100:1410-1416
12. Oscier DG, Gardiner AC, Mould SJ, et al. Multivariate analysis of prognostic factors in CLL: clinical stage, IgVH gene mutational status, and loss or mutation of the p53 gene are independent prognostic factors. Blood 2002;100:1177-1184
13. Eichhorst BF, Busch R, Hopfinger G, et al. Fludarabine plus cyclophosphamide versus fludarabine alone in first-line therapy of younger patients with chronic lymphocytic leukemia. Blood 2006;107:885-891 (Pubitemid 43156283)
14. Catovsky D, Richards S, Matutes E, et al. Assessment of fludarabine plus cyclophosphamide for patients with chronic lymphocytic leukaemia (the LRF CLL4 Trial): a randomised controlled trial. Lancet 2007;370:230-239 (Pubitemid 47069536)
15. Grever MR, Lucas DM, Dewald GW, et al. Comprehensive assessment of genetic and molecular features predicting outcome in patients with chronic lymphocytic leukemia: results from the US Intergroup Phase III Trial E2997. J Clin Oncol 2007;25:799-804. (Pubitemid 350010635)
16. Bosch F, Ferrer A, Villamor N, et al. Fludarabine, cyclophosphamide, and mitoxantrone as initial therapy of chronic lymphocytic leukemia: high response rate and disease eradication. Clin Cancer Res 2008;14:155-161
17. Vogelstein B, Lane D, Levine AJ. Surfing the p53 network. Nature 2000;408:307-310
18. Lane DP. Cancer. p53, guardian of the genome. Nature 1992;358:15-16
19. Clarke AR, Purdie CA, Harrison DJ, et al. Thymocyte apoptosis induced by p53-dependent and independent pathways. Nature 1993;362:849-852 (Pubitemid 23132162)
20. Lotem J, Sachs L. Hematopoietic cells from mice deficient in wild-type p53 are more resistant to induction of apoptosis by some agents. Blood 1993;82:1092-1096 (Pubitemid 23253980)
21. Lowe SW, Ruley HE, Jacks T, Housman DE. p53-dependent apoptosis modulates the cytotoxicity of anticancer agents. Cell 1993;74:957-967 (Pubitemid 23289454)
22. Peller S. Clinical implications of p53: effect on prognosis, tumor progression and chemotherapy response. Semin Cancer Biol 1998;8:379-387 (Pubitemid 29131359)
23. Peller S, Rotter V. TP53 in hematological cancer: low incidence of mutations with significant clinical relevance. Hum Mutat 2003;21:277-284 (Pubitemid 36292969)
24. Dotto GP. p21(WAF1/Cip1): more than a break to the cell cycle? Biochim Biophys Acta 2000;1471:M43-56.
25. el-Deiry WS, Tokino T, Velculescu VE, et al. WAF1, a potential mediator of p53 tumor suppression. Cell 1993;75:817-825
26. Harper JW, Adami GR, Wei N, Keyomarsi K, Elledge SJ. The p21 Cdk-interacting protein Cip1 is a potent inhibitor of G1 cyclin-dependent kinases. Cell 1993;75:805-816 (Pubitemid 23346377)
27. Suzuki A, Tsutomi Y, Akahane K, Araki T, Miura M. Resistance to Fas-mediated apoptosis: activation of caspase 3 is regulated by cell cycle regulator p21WAF1 and IAP gene family ILP. Oncogene 1998;17:931-939 (Pubitemid 28425403)
28. Lincet H, Poulain L, Remy JS, et al. The p21(cip1/waf1) cyclin-dependent kinase inhibitor enhances the cytotoxic effect of cisplatin in human ovarian carcinoma cells. Cancer Lett 2000;161:17-26. (Pubitemid 30811134)
29. Pettitt AR, Sherrington PD, Stewart G, et al. p53 dysfunction in B-cell chronic lymphocytic leukemia: inactivation of ATM as an alternative to TP53 mutation. Blood 2001;98:814-822
30. Carter A, Lin K, Sherrington PD, Pettitt AR. Detection of p53 dysfunction by flow cytometry in chronic lymphocytic leukaemia. Br J Haematol 2004;127:425-428 (Pubitemid 39536594)
31. Lin K, Sherrington PD, Dennis M, et al. Relationship between p53 dysfunction, CD38 expression, and IgV(H) mutation in chronic lymphocytic leukemia. Blood 2002;100:1404-1409
32. Lin K, Manocha S, Harris RJ, Matrai Z, Sherrington PD, Pettitt AR. High frequency of p53 dysfunction and low level of VH mutation in chronic lymphocytic leukemia patients using the VH3-21 gene segment. Blood 2003;102:1145-1146 (Pubitemid 36917821)
33. Carter A, Lin K, Sherrington PD, et al. Imperfect correlation between p53 dysfunction and deletion of TP53 and ATM in chronic lymphocytic leukaemia. Leukemia 2006;20:737-740
34. Brookes AJ. The essence of SNPs. Gene 1999;234:177-186 (Pubitemid 29298180)
35. Roh JW, Kim JW, Park NH, et al. p53 and p21 genetic polymorphisms and susceptibility to endometrial cancer. Gynecol Oncol 2004;93:499-505. (Pubitemid 38507625)
36. Suh Y, Vijg J. SNP discovery in associating genetic variation with human disease phenotypes. Mutat Res 2005;573:41-53. (Pubitemid 40501971)
37. Beckman G, Birgander R, Själander A, et al. Is p53 polymorphism maintained by natural selection? Hum Hered 1994;44:266-270
38. Weston A, Pan CF, Ksieski HB, et al. p53 haplotype determination in breast cancer. Cancer Epidemiol Biomarkers Prev 1997;6:105-112 (Pubitemid 27069203)
39. Thomas M, Kalita A, Labrecque S, Pim D, Banks L, Matlashewski G. Two polymorphic variants of wild-type p53 differ biochemically and biologically. Mol Cell Biol 1999;19:1092-1100 (Pubitemid 29046852)
40. Dumont P, Leu JI, Della Pietra AC III, George DL, Murphy M. The codon 72 polymorphic variants of p53 have markedly different apoptotic potential. Nat Genet 2003;33:357-365 (Pubitemid 36278852)
41. Li X, Dumont P, Della Pietra A, Shetler C, Murphy ME. The codon 47 polymorphism in p53 is functionally significant. J Biol Chem 2005;280:24245-24251 (Pubitemid 40884914)
42. Pietsch EC, Humbey O, Murphy ME. Polymorphisms in the p53 pathway. Oncogene 2006;25:1602-1611
43. Rodrigues FC, Kawasaki-Oyama RS, Fo JF, et al. Analysis of CDKN1A polymorphisms: markers of cancer susceptibility? Cancer Genet Cytogenet 2003;142:92-98
44. Su L, Sai Y, Fan R, et al. p53 (codon 72) and p21 (codon 31) polymorphisms alter in vivo mRNA expression of p21. Lung Cancer 2003;40:259-266
45. Mousses S, Ozçelik H, Lee PD, Malkin D, Bull SB, Andrulis IL. Two variants of the CIP1/WAF1 gene occur together and are associated with human cancer. Hum Mol Genet 1995;4:1089-1092
46. Grzybowska EA, Wilczynska A, Siedlecki JA. Regulatory functions of 3′UTRs. Biochem Biophys Res Commun 2001;288:291-295
47. Kuersten S, Goodwin EB. The power of the 3′ UTR: translational control and development. Nat Rev Genet 2003;4:626-637
48. Bahl R, Arora S, Nath N, Mathur M, Shukla NK, Ralhan R. Novel polymorphism in p21(waf1/cip1) cyclin dependent kinase inhibitor gene: association with human esophageal cancer. Oncogene 2000;19:323-328 (Pubitemid 30077331)
49. Kim HS, Yeo EJ, Park SH, et al. p21WAF/CIP1/SDI1 is upregulated due to increased mRNA stability during hydroxyurea-induced senescence of human fibroblasts. Mech Ageing Dev 2005;126:1255-1261 (Pubitemid 41572242)
50. Duan J, Wainwright MS, Comeron JM, et al. Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum Mol Genet 2003;12:205-216 (Pubitemid 36204418)
51. Liu S, Bishop WR, Liu M. Differential effects of cell cycle regulatory protein p21(WAF1/Cip1) on apoptosis and sensitivity to cancer chemotherapy. Drug Resist Updat 2003;6:183-195 (Pubitemid 37129918)
52. Gartel AL. The conflicting roles of the cdk inhibitor p21(CIP1/WAF1) in apoptosis. Leuk Res 2005;29:1237-1238 (Pubitemid 41297632)
53. Diaz M, Lawrence C. An update on the role of translesion synthesis DNA polymerases in Ig hypermutation. Trends Immunol 2005;26:215-220 (Pubitemid 41556859)
54. Avkin S, Sevilya Z, Toube L, et al. p53 and p21 regulate error-prone DNA repair to yield a lower mutation load. Mol Cell 2006;22:407-413
55. Langerak P, Nygren AO, Krijger PH, van den Berk PC, Jacobs H. A/T mutagenesis in hypermutated immunoglobulin genes strongly depends on PCNAK164 modification. J Exp Med 2007;204:1989-1998 (Pubitemid 47236332)
56. Diaz M, Lawrence C. An update on the role of translesion synthesis DNA polymerases in Ig hypermutation. Trends Immunol 2005;26:215-220 (Pubitemid 41556859)
57. Iakova P, Wang GL, Timchenko L, et al. Competition of CUGBP1 and calreticulin for the regulation of p21 translation determines cell fate. EMBO J 2004;23:406-417 (Pubitemid 38294505)