Global approach to the diagnosis of leukemia using gene expression profiling

Blood

Volumn 106, Issue 4, 2005, Pages 1189-1198

  Haferlach, Torsten ^a   Kohlmann, Alexander ^b   Schnittger, Susanne ^b   Dugas, Martin ^b   Hiddemann, Wolfgang ^b   Kern, Wolfgang ^b   Schoch, Claudia ^b  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ACUTE GRANULOCYTIC LEUKEMIA; ACUTE LYMPHOBLASTIC LEUKEMIA; ARTICLE; B CELL LEUKEMIA; CANCER DIAGNOSIS; CHROMOSOME TRANSLOCATION 15; CHROMOSOME TRANSLOCATION 8; CHRONIC LYMPHATIC LEUKEMIA; CLUSTER ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DNA MICROARRAY; GENE EXPRESSION; HUMAN; HUMAN CELL; LEUKEMIA; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PRO B CELL ACUTE LYMPHOBLASTIC LEUKEMIA; VALIDATION PROCESS;

EID: 23644438883     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2004-12-4938     Document Type: Article

References (71)

1. Bennett JM, Catovsky D, Daniel MT, et al. Proposed revised criteria for the classification of acute myeloid leukemia: a report of the French-American-British Cooperative Group. Ann Intern Med. 1985;103:620-625.
2. Bennett JM, Catovsky D, Daniel MT, et al. Proposals for the classification of the acute leukaemias: French-American-British (FAB) Co-operative Group. Br J Haematol. 1976;33:451-458.
3. Jaffe ES, Harris NL, Stein H, Vardiman JW. World Health Organization Classification of Tumours: Pathology and Genetics of Tumours of Haematopoietic and Lymphoid Tissues. Lyon, France: IARC Press; 2001.
4. Tallman MS, Andersen JW, Schiffer CA, et al. All-trans-retinoic acid in acute promyelocytic leukemia [see comments] [published erratum appears in N Engl J Med 1997;337:1639], N Engl J Med. 1997;337:1021-1028.
5. Warrell RP Jr, de The H, Wang ZY, Degos L. Acute promyelocytic leukemia [see comments]. N Engl J Med. 1993;329:177-189.
6. Warrell RP Jr, Frankel SR, Miller WH Jr, et al. Differentiation therapy of acute promyelocytic leukemia with tretinoin (all-trans-retinoic acid). N Engl J Med. 1991;324:1385-1393.
7. Lowenberg B, Downing JR, Burnett A. Acute myeloid leukemia. N Engl J Med. 1999;341:1051-1062.
8. Schoch C, Haferlach T, Haase D, et al. Patients with de novo acute myeloid leukaemia and complex karyotype aberrations show a poor prognosis despite intensive treatment: a study of 90 patients. Br J Haematol. 2001;112:118-126.
9. Grimwade D, Walker H, Oliver F, et al. The importance of diagnostic cytogenetics on outcome in AML: analysis of 1,612 patients entered into the MRC AML10 trial: the Medical Research Council Adult and Children's Leukaemia Working Parties. Blood. 1998;92:2322-2333,
10. Grimwade D, Walker H, Harrison G, et al. The predictive value of hierarchical cytogenetic classification in older adults with acute myeloid leukemia (AML): analysis of 1065 patients entered into the United Kingdom Medical Research Council AML11 trial. Blood. 2001;98:1312-1320.
11. Pui CH, Relling MV, Downing JR. Acute lymphoblastic leukemia. N Engl J Med. 2004;350:1535-1548
12. Goldman JM, Melo JV. Chronic myeloid leukemia-advances in biology and new approaches to treatment. N Engl J Med. 2003;349:1451-1464.
13. Hughes TP, Kaeda J, Branford S, et al. Frequency of major molecular responses to imatinib or interferon alfa plus cytarabine in newly diagnosed chronic myeloid leukemia. N Engl J Med. 2003;349:1423-1432.
14. O'Brien SG, Guilhot F, Larson RA, et al. Imatinib compared with Interferon and low-dose cytarabine for newly diagnosed chronic-phase chronic myeloid leukemia. N Engl J Med. 2003;348:994-1004.
15. Druker BJ, Sawyers CL, Kantarjian H, et al. Activity of a specific inhibitor of the BCR-ABL tyrosine kinase in the blast crisis of chronic myeloid leukemia and acute lymphoblastic leukemia with the Philadelphia chromosome. N Engl J Med. 2001;344:1038-1042.
16. Kantarjian H, Sawyers C, Hochhaus A, et al. Hematologic and cytogenetic responses to imatinib mesylate in chronic myelogenous leukemia. N Engl J Med. 2002;346:645-652.
17. Scheuring UJ, Pfeifer H, Wassmann B, et al. Early minimal residual disease (MRD) analysis during treatment of Philadelphia chromosome/Bcr-Abl- positive acute lymphoblastic leukemia with the Abl-tyrosine kinase inhibitor imatinib (STI571). Blood. 2003;101:85-90.
18. Kern W, Voskova D, Schoch C, et al. Determination of relapse risk based on assessment of minimal residual disease during complete remission by multiparameterflow cytometry in unselected patients with acute myeloid leukemia. Blood. 2004;104:3078-3085.
19. Schnittger S, Weisser M, Schoch C, et al. New score predicting for prognosis in PML-RARA+, AML1-ETO+, or CBFBMYH11 + acute myeloid leukemia based on quantification of fusion transcripts. Blood. 2003;102:2746-2755.
20. Coustan-Smith E, Sancho J, Behm FG, et al. Prognostic importance of measuring early clearance of leukemic cells by flow cytometry in childhood acute lymphoblastic leukemia. Blood. 2002;100:52-58.
21. Campana D, Behm FG. Immunophenotyping of leukemia. J Immunol Methods. 2000;243:59-75.
22. Rawstron AC, Kennedy B, Moreton P, et al. Early prediction of outcome and response to alemtuzumab therapy in chronic lymphocytic leukemia. Blood. 2004;103:2027-2031.
23. Grimwade D, Haferlach T. Gene-expression profiling in acute myeloid leukemia. N Engl J Med. 2004;350:1676-1678.
24. Golub TR, Slonim DK, Tamayo P, et al. Molecular classification of cancer: class discovery and class prediction by gene expression monitoring. Science, 1999;286:531-537.
25. Dugas M, Merk S, Breit S, Dirschedl P. mdclust-exploratory microarray analysis by multidimensional clustering. Bioinformatics. 2004;20:931-936.
26. Yeoh EJ, Ross ME, Shurtletf SA, et al. Classification, subtype discovery, and prediction of outcome in pediatric acute lymphoblastic leukemia by gene expression profiling. Cancer Cell. 2002;1:133-143.
27. Ross ME, Zhou X, Song G, et al. Classification of pediatric acute lymphoblastic leukemia by gene expression profiling. Blood. 2003;102:2951-2959.
28. Ross ME, Mahfouz R, Onciu M, et al. Gene expression profiling of pediatric acute myelogenous leukemia. Blood. 2004;104:3679-3687.
29. Dugas M, Schoch C, Schnittger S, et al. A comprehensive leukemia database:integration of cytogenetics, molecular genetics and microarray data with clinical information, cytomorphology and immunophenotyping. Leukemia. 2001;15:1805-1810.
30. Haferlach T, Schoch C, Loffler H, et al. Morphologic dysplasia in de novo acute myeloid leukemia (AML) is related to unfavorable cytogenetics but has no independent prognostic relevance under the conditions of intensive induction therapy: results of a multiparameter analysis from the German AML Cooperative Group studies. J Clin Oncol. 2003;21:256-265.
31. Kern W, Voskova D, Schoch C, et al. Prognostic impact of early response to induction therapy as assessed by multiparameter flow cytometry in acute myeloid leukemia. Haematologica. 2004;89:528-540.
32. Schoch C, Schnittger S, Klaus M, et al. AML with 11q23/MLL abnormalities as defined by the WHO classification: incidence, partner chromosomes, FAB subtype, age distribution, and prognostic impact in an unselected series of 1897 cytogenetically analyzed AML cases. Blood. 2003;102:2395-2402.
33. Schnittger S, Schoch C, Dugas M, et al. Analysis of FLT3 length mutations in 1003 patients with acute myeloid leukemia: correlation to cytogenetics, FAB subtype, and prognosis in the AMLCG study and usefulness as a marker for the detection of minimal residual disease. Blood. 2002;100:59-66.
34. Schoch C, Schnittger S, Bursch S, et al. Comparison of chromosome banding analysis, interphase-and hypermetaphase-FISH, qualitative and quantitative PCR for diagnosis and for follow-up in chronic myeloid leukemia: a study on 350 cases. Leukemia. 2002;16:53-59.
35. Bacher U, Schnittger S, Kern W, et al. The incidence of submicroscopic deletions in reciprocal translocations is similar in acute myeloid leukemia, BCR-ABL positive acute lymphoblastic leukemia, and chronic myeloid leukemia. Haematologica. 2005;90:558-559.
36. Onciu M, Lai R, Vega F, Bueso-Ramos C, Medeiros LJ. Precursor T-cell acute lymphoblastic leukemia in adults: age-related immunophenotypic, cytogenetic, and molecular subsets. Am J Clin Pathol. 2002;117:252-258.
37. Buchner T, Hiddemann W, Berdel WE, et al. 6-Thioguanine, cytarabine, and daunorubicin (TAD) and high-dose cytarabine and mitoxantrone (HAM) for induction, TAD for consolidation, and either prolonged maintenance by reduced monthly TAD or TAD-HAM-TAD and one course of intensive consolidation by sequential HAM in adult patients at all ages with de novo acute myeloid leukemia (AML): a randomized trial of the German AML Cooperative Group. J Clin Oncol. 2003;21:4496-4504.
38. Kern W, Haferlach T, Schoch C, et al. Early blast clearance by remission induction therapy is a major independent prognostic factor for both achievement of complete remission and long-term outcome in acute myeloid leukemia: data from the German AML Cooperative Group (AMLCG) 1992 Trial. Blood. 2003;101:64-70.
39. Lucio P, Gaipa G, van Lochem EG, et al. BIOMED-1 concerted action report: flow cytometric immunophenotyping of precursor B-ALL with standardized triple-stainings: BIOMED-1 Concerted Action Investigation of Minimal Residual Disease in Acute Leukemia: International Standardization and Clinical Evaluation. Leukemia. 2001;15:1185-1192.
40. Gleissner B, Rieder H, Thiel E, et al. Prospective BCR-ABL analysis by polymerase chain reaction (RT-PCR) in adult acute B-lineage lymphoblastic leukemia: reliability of RT-nested-PCR and comparison to cytogenetic data. Leukemia. 2001;15:1834-1840.
41. Argyle JC, Benjamin DR, Lampkin B, Hammond D. Acute nonlymphocytic leukemias of childhood: inter-observer variability and problems in the use of the FAB classification. Cancer. 1989;63:295-301.
42. Bennett JM, Begg CB. Eastern Cooperative Oncology Group study of the cytochemistry of adult acute myeloid leukemia by correlation of subtypes with response and survival. Cancer Res. 1981;41:4833-4837.
43. Byrd JC, Mrozek K, Dodge RK, et al. Pretreatment cytogenetic abnormalities are predictive of induction success, cumulative incidence of relapse, and overall survival in adult patients with de novo acute myeloid leukemia: results from Cancer and Leukemia Group B (CALGB 8461). Blood. 2002;100:4325-4336.
44. Schoch C, Kern W, Schnittger S, Hiddemann W, Haferlach T. Karyotype is an independent prognostic parameter in therapy-related acute myeloid leukemia (t-AML): an analysis of 93 patients with t-AML in comparison to 1091 patients with de novo AML. Leukemia. 2004;18:120-125.
45. Hoelzer D, Ludwig WD, Thiel E, et al. Improved outcome in adult B-cell acute lymphoblastic leukemia. Blood. 1996;87:495-508.
46. Tenen DG. Disruption of differentiation in human cancer: AML shows the way. Nat Rev Cancer. 2003;3:89-101.
47. Mecucci C, Rosati R, Starza RL. Genetic profile of acute myeloid leukemia. Rev Clin Exp Hematol. 2002;6:3-25.
48. Alcalay M, Orleth A, Sebastian C, et al. Common themes in the pathogenesis of acute myeloid leukemia. Oncogene. 2001;20:5680-5694.
49. Kohlmann A, Schoch C, Schnittger S, et al. Molecular characterization of acute leukemias by use of microarray technology. Genes Chromosomes Cancer. 2003;37:396-405.
50. Schoch C, Kohlmann A, Schnittger S, et al. Acute myeloid leukemias with reciprocal rearrangements can be distinguished by specific gene expression profiles. Proc Natl Acad Sci USA. 2002;99:10008-10013.
51. Valk PJ, Verhaak RG, Beijen MA, et al. Prognostically useful gene-expression profiles in acute myeloid leukemia. N Engl J Med. 2004;350:1617-1628.
52. Bullinger L, Dohner K, Bair E, et al. Use of gene-expression profiling to identify prognostic subclasses in adult acute myeloid leukemia. N Engl J Med. 2004;350:1605-1616.
53. Gilliland DG, Griffin JD. The roles of FLT3 in hematopoiesis and leukemia. Blood. 2002;100:1532-1542.
54. Bene MC, Castoldi G, Knapp W, et al. Proposals for the immunological classification of acute leukemias: European Group for the Immunological Characterization of Leukemias (EGIL). Leukemia. 1995;9:1783-1786.
55. Johnstone RW, See RH, Sells SF, et al. A novel repressor, par-4, modulates transcription and growth suppression functions of the Wilms' tumor suppressor WT1 Mol Cell Biol. 1996;16:6945-6956.
56. Galon J, Franchimont D, Hiroi N, et al. Gene profiling reveals unknown enhancing and suppressive actions of glucocorticoids on immune cells. FASEB J. 2002;16:61-71.
57. Inohara N, Koseki T, del Peso L, et al. Nod1, an Apaf-1-like activator of caspase-9 and nuclear factor-κB. J Biol Chem. 1999;274:14560-14567.
58. Bertin J, Mir WJ, Fischer CM, et al. Human CARD4 protein is a novel CED-4/Apaf-1 cell death family member that activates NF-κB. J Biol Chem. 1999;274:12955-12958.
59. Whitney AR, Diehn M, Popper SJ, et al. Individuality and variation in gene expression patterns in human blood. Proc Natl Acad Sci U S A. 2003;100:1896-1901.
60. Jelinek DF, Tschumper RC, Stolovitzky GA, et al. Identification of a global gene expression signature of B-chronic lymphocytic leukemia. Mol Cancer Res. 2003;1:346-361.
61. + cells from normal and myelodysplastic bone marrow. Blood. 2002;100:3553-3560.
62. Repp R, Borkhardt A, Haupt E, et al. Detection of four different 11q23 chromosomal abnormalities by multiplex-PCR and fluorescence-based automatic DNA-fragment analysis. Leukemia. 1995;9:210-215.
63. Tallman MS. Relevance of pathologic classifications and diagnosis of acute myeloid leukemia to clinical trials and clinical practice. Cancer Treat Res. 2004;121:45-67.
64. Preudhomme C, Sagot C, Boissel N, et al. Favorable prognostic significance of CEBPA mutations in patients with de novo acute myeloid leukemia: a study from the Acute Leukemia French Association (ALFA). Blood. 2002;100:2717-2723.
65. Schnittger S, Kinkelin U, Schoch C, et al. Screening for MLL tandem duplication in 387 unselected patients with AML identifies a prognostically unfavorable subset of AML. Leukemia. 2000;14:796-804.
66. Virtaneva K, Wright FA, Tanner SM, et al. Expression profiling reveals fundamental biological differences in acute myeloid leukemia with isolated trisomy 8 and normal cytogenetics. Proc Natl Acad Sci USA. 2001;98:1124-1129.
67. Debernardi S, Lillington DM, Chaplin T, et al. Genome-wide analysis of acute myeloid leukemia with normal karyotype reveals a unique pattern of homeobox gene expression distinct from those with translocation-mediated fusion events. Genes Chromosomes Cancer. 2003;37:149-158.
68. Alizadeh AA, Ross DT, Perou CM, van de RM. Towards a novel classification of human malignancies based on gene expression patterns. J Pathol. 2001;195:41-52.
69. Staudt LM. Molecular diagnosis of the hematologic cancers. N Engl J Med. 2003;348:1777-1785.
70. Rosenwald A, Alizadeh AA, Widhopf G, et al. Relation of gene expression phenotypeto immunoglobulin mutation genotype in B cell chronic lymphocytic leukemia. J Exp Med. 2001;194:1639-1647.
71. Greiner TC. mRNA microarray analysis in lymphoma and leukemia. Cancer Treat Res. 2004;121:1-12.