Variations of the ataxia telangiectasia mutated gene in patients with chronic lymphocytic leukemia lack substantial impact on progression-free survival and overall survival: A Cancer and Leukemia Group B study

Leukemia and Lymphoma

Volumn 53, Issue 9, 2012, Pages 1743-1748

  Lozanski, Gerard ^a   Ruppert, Amy S ^a   Heerema, Nyla A ^a   Lozanski, Arletta ^a   Lucas, David M ^a   Gordon, Amber ^a   Gribben, John G ^b   Morrison, Vicki A ^c   Rai, Kanti M ^d   Marcucci, Guido ^a   Larson, Richard A ^e   Byrd, John C ^a  

^a OHIO STATE UNIVERSITY   (United States)

^b QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^c UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^d LONG ISLAND JEWISH MEDICAL CENTER   (United States)

^e UNIVERSITY OF CHICAGO   (United States)

Author keywords

ATM mutation; chemoimmunotherapy; Chronic lymphocytic leukemia; prognosis

Indexed keywords

ATM PROTEIN; FLUDARABINE; RITUXIMAB;

ADULT; AGED; ARTICLE; CANCER CHEMOTHERAPY; CANCER PATIENT; CANCER SURVIVAL; CAPILLARY ELECTROPHORESIS; CHRONIC LYMPHATIC LEUKEMIA; CONFIDENCE INTERVAL; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOGLOBULIN HEAVY CHAIN GENE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MULTIVARIATE ANALYSIS; MUTATIONAL ANALYSIS; OVERALL SURVIVAL; PRIORITY JOURNAL; PROGRESSION FREE SURVIVAL; PROPORTIONAL HAZARDS MODEL; STATISTICAL SIGNIFICANCE; TREATMENT OUTCOME;

ADULT; AGED; AGED, 80 AND OVER; ANTIBODIES, MONOCLONAL, MURINE-DERIVED; ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; CELL CYCLE PROTEINS; DISEASE-FREE SURVIVAL; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; HUMANS; IMMUNOGLOBULIN HEAVY CHAINS; IMMUNOGLOBULIN VARIABLE REGION; KAPLAN-MEIER ESTIMATE; LEUKEMIA, LYMPHOCYTIC, CHRONIC, B-CELL; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; OUTCOME ASSESSMENT (HEALTH CARE); POLYMORPHISM, SINGLE NUCLEOTIDE; PROPORTIONAL HAZARDS MODELS; PROTEIN-SERINE-THREONINE KINASES; TUMOR SUPPRESSOR PROTEINS; VIDARABINE;

EID: 84865031613     PISSN: 10428194     EISSN: 10292403     Source Type: Journal    
DOI: 10.3109/10428194.2012.668683     Document Type: Article

References (51)

1. Hamblin, Davis Z, Gardiner A, et al. Unmutated Ig V(H) genes are associated with a more aggressive form of chronic lymphocytic leukemia. Blood 1999;94:1848-1854.
2. M aloum K, Davi F, Merle-Beral H, et a l. Expression of unmutated VH genes is a detrimental prognostic factor in chronic lymphocytic leukemia. Blood 2000;96:377-379.
3. D amle 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.
4. B yrd JC, Gribben JG, Peterson BL, et a l. Select high-risk genetic features predict earlier progression following chemoimmunotherapy with fl udarabine and rituximab in chronic lymphocytic leukemia: justifi cation for risk-adapted therapy. J Clin Oncol 2006;24:437-443.
5. D ohner H, Stilgenbauer S, Benner A, et al. Genomic aberrations and survival in chronic lymphocytic leukemia. N Engl J Med 2000;343: 1910-1916.
6. D ohner H, Stilgenbauer S, James MR, et al. 11q deletions identify a new subset of B-cell chronic lymphocytic leukemia characterized by extensive nodal involvement and inferior prognosis. Blood 1997;89: 2516-2522.
7. F egan C, Robinson H, Th ompson P, et al. Karyotypic evolution in CLL: Identifi cation of a new sub-group of patients with deletions of 11q and advanced or progressive disease. Leukemia 1995;9:2003-2008.
8. N eilson JR, Auer R, White D, et a l. Deletions at 11q identify a subset of patients with typical CLL who show consistent disease progression and reduced survival. Leukemia 1997;11:1929-1932.
9. H allek M, Cheson BD, Catovsky D, et al. Guidelines for the diagnosis and treatment of chronic lymphocytic leukemia: A report from the International Workshop on Chronic Lymphocytic Leukemia updating the National Cancer Institute-Working Group 1996 guidelines. Blood 2008;111:5446-5456.
10. G ribben JG, O'Brien S. Update on therapy of chronic lymphocytic leukemia. J Clin Oncol 2011;29:544-550.
11. C atovsky D, Richards S, Matutes E, et al. Assessment of fl udarabine plus cyclophosphamide for patients with chronic lymphocytic leukaemia (the LRF CLL4 Trial): A randomised controlled trial. Lancet 2007;370:230-239.
12. W oyach JA, Ruppert AS, Heerema NA, et al. Chemoimmunotherapy with fl udarabine and rituximab produces extended overall survival and progression-free survival in chronic lymphocytic leukemia: long-term follow-up of CALGB study 9712. J Clin Oncol 2011;29:1349-1355.
13. D ohner H, Fischer K, Bentz M, et a l. 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.
14. e l Rouby S, Th omas A, Costin D, et a l. 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.
15. M alcikova J, Smardova J, Rocnova L, et a l. Monoallelic and biallelic inactivation of TP53 gene in chronic lymphocytic leukemia: Selection, impact on survival, and response to DNA damage. Blood 2009;114:5307-5314.
16. R ossi D, Cerri M, Deambrogi C, et a l. Th e prognostic value of TP53 mutations in chronic lymphocytic leukemia is independent of del17p13: Implications for overall survival and chemorefractoriness. Clin Cancer Res 2009;15:995-1004.
17. Z enz T, Krober A, Scherer K, et al. Monoallelic TP53 inactivation is associated with poor prognosis in chronic lymphocytic leukemia: Results from a detailed genetic characterization with long-term follow-up. Blood 2008;112:3322-3329.
18. Gonzalez D, Martinez P, Wade R, et a l. Mutational status of the TP53 gene as a predictor of response and survival in patients with chronic lymphocytic leukemia: Results from the LRF CLL4 trial. J Clin Oncol 2011;29:2223-2229.
19. Z enz T, Eichhorst B, Busch R, et al. TP53 mutation and survival in chronic lymphocytic leukemia. J Clin Oncol 2010;28:4473-4479.
20. 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.
21. T simberidou AM, Tam C, Abruzzo LV, et al. Chemoimmunotherapy may overcome the adverse prognostic signifi cance of 11q deletion in previously untreated patients with chronic lymphocytic leukemia. Cancer 2009;115:373-380.
22. Boultwood J. Ataxia telangiectasia gene mutations in leukaemia and lymphoma. J Clin Pathol 2001;54:512-516.
23. Schaff ner C, Stilgenbauer S, Rappold GA, et al. Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia. Blood 1999;94:748-753.
24. Stankovic T, Weber P, Stewart G, et al. Inactivation of ataxia telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia. Lancet 1999;353:26-29.
25. B ullrich F, Rasio D, Kitada S, et al. ATM mutations in B-cell chronic lymphocytic leukemia. Cancer Res 1999;59:24-27.
26. Ishibe N, Goldin LR, Caporaso NE, et al. ATM mutations and protein expression are not associated with familial B-CLL cases. Leuk Res 2003;27:973-975.
27. Stankovic T, Stewart GS, Byrd P, et al. ATM mutations in sporadic lymphoid tumours. Leuk Lymphoma 2002;43:1563-1571.
28. Yuille MR, Condie A, Hudson CD, et a l. ATM mutations are rare in familial chronic lymphocytic leukemia. Blood 2002;100:603-609.
29. Stankovic T, Stewart GS, Fegan C, et al. Ataxia telangiectasia mutated-defi cient B-cell chronic lymphocytic leukemia occurs in pregerminal center cells and results in defective damage response and unrepaired chromosome damage. Blood 2002;99:300-309.
30. A usten B, Skowronska A, Baker C, et a l. Mutation status of the residual ATM allele is an important determinant of the cellular response to chemotherapy and survival in patients with chronic lymphocytic leukemia containing an 11q deletion. J Clin Oncol 2007;25: 5448-5457.
31. A usten B, Powell JE, Alvi A, et a l. Mutations in the ATM gene lead to impaired overall and treatment-free survival that is independent of IGVH mutation status in patients with B-CLL. Blood 2005;106: 3175-3182.
32. Skowronska A, Austen B, Powell JE, et al. ATM germline heterozygosity does not play a role in CLL initiation but infl uences rapid disease progression through loss of the remaining ATM allele. Haematologica 2012;97:142-146.
33. B yrd JC, Peterson BL, Morrison VA, et a l. Randomized phase 2 study of fl udarabine with concurrent versus sequential treatment with rituximab in symptomatic, untreated patients with B-cell chronic lymphocytic leukemia: Results from Cancer and Leukemia Group B 9712 (CALGB 9712). Blood 2003;101:6-14.
34. Cheson BD, Horning SJ, Coiffi er B, et al. Report of an international workshop to standardize response criteria for non-Hodgkin lymphomas. NCI Sponsored International Working Group. J Clin Oncol 1999;17:1244.
35. Bernstein JL, Teraoka S, Southey MC, et a l. Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T- G and c.1066 - 6T- G (IVS10 - 6T- G) from the Breast Cancer Family Registry. Hum Mutat 2006;27:1122-1128.
36. Dork T, Bendix R, Bremer M, et a l. Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients. Cancer Res 2001;61:7608-7615.
37. F letcher O, Johnson N, dos Santos Silva I, et al. Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls. Cancer Epidemiol Biomarkers Prev 2010;19:2143-2151.
38. Gonzalez-Hormazabal P, Bravo T, Blanco R, et al. Association of common ATM variants with familial breast cancer in a South American population. BMC Cancer 2008;8:117.
39. Gumy-Pause F, Wacker P, Sappino AP. ATM gene and lymphoid malignancies. Leukemia 2004;18:238-242.
40. S cott SP, Bendix R, Chen P, et al. Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. Proc Natl Acad Sci USA 2002;99: 925-930.
41. B retsky P, Haiman CA, Gilad S, et a l. Th e relationship between twenty missense ATM variants and breast cancer risk: The Multiethnic Cohort. Cancer Epidemiol Biomarkers Prev 2003;12:733-738.
42. B roeks A, Braaf LM, Huseinovic A, et al. Th e spectrum of ATM missense variants and their contribution to contralateral breast cancer. Breast Cancer Res Treat 2008;107:243-248.
43. E inarsdottir K, Rosenberg LU, Humphreys K, et a l. Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival: A population-based case-control and follow-up study. Breast Cancer Res 2006;8:R67.
44. S chneider J, Illig T, Rosenberger A, et a l. Detection of ATM gene mutations in young lung cancer patients: A population-based control study. Arch Med Res 2008;39:226-231.
45. S ipahimalani P, Spinelli JJ, MacArthur AC, et a l. A systematic evaluation of the ataxia telangiectasia mutated gene does not show an association with non-Hodgkin lymphoma. Int J Cancer 2007;121: 1967-1975
46. Concannon P, Haile RW, Borresen-Dale AL, et a l. Variants in the ATM gene associated with a reduced risk of contralateral breast cancer. Cancer Res 2008;68:6486-6491.
47. Schrauder M, Frank S, Strissel PL, et a l. Single nucleotide polymorphism D1853N of the ATM gene may alter the risk for breast cancer. J Cancer Res Clin Oncol 2008;134:873-882.
48. Rudd MF, Williams RD, Webb EL, et al. Th e predicted impact of coding single nucleotide polymorphisms database. Cancer Epidemiol Biomarkers Prev 2005;14:2598-2604.
49. 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.
50. Lahdesmaki A, Kimby E, Duke V, et a l. ATM mutations in B-cell chronic lymphocytic leukemia. Haematologica 2004;89:109-110.
51. Bevan S, Catovsky D, Marossy A, et al. Linkage analysis for ATM in familial B cell chronic lymphocytic leukaemia. Leukemia 1999;13:1497-1500.