Best Practice & Research Clinical Haematology
Volume 21, Issue 1 , Pages 43-52 , March 2008

Is it important to decipher the heterogeneity of “normal karyotype AML”?

References 

  1. Nowell PC, Hungerford DA. Chromosome studies on normal and leukemic human leukocytes. Journal of the National Cancer Institute. 1960;25:85–109
  2. Rowley JD. Identification of the constant chromosome regions involved in human hematologic malignant disease. Science. 1982;216:749–751
  3. Lazzio CB, Lozzio BB. Human chronic myelogenous leukemia cell-line with positive Philadelphia chromosome. Blood. 1975;45:321–334
  4. Koeffler HP, Golde DW. Acute myelogenous leukemia: a human cell line responsive to colony-stimulating activity. Science. 1978;200:1153–1154
  5. Baltimore D. RNA-dependent DNA polymerase in virions of RNA tumour viruses. Nature. 1970;226:1209–1211
  6. Dulbecco R. Oncogenic viruses: the last twelve years. Cold Spring Harbor Symposia on Quantitative Biology. 1975;1(39 Pt):1–7
  7. Temin HM, Mizutani S. RNA-dependent DNA polymerase in virions of Rous sarcoma virus. Nature. 1970;226:1211–1213
  8. Maxam AM, Gilbert W. A new method for sequencing DNA. Proceedings of the National Academy of Sciences of the United States of America. 1977;74:560–564
  9. Mullis K, Faloona F, Scharf S, et al. Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction. Cold Spring Harbor Symposia on Quantitative Biology. 1986;1(51 Pt):263–273
  10. Pinkel D, Straume T, Gray JW. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proceedings of the National Academy of Sciences of the United States of America. 1986;83:2934–2938
  11. Bennett JM, Catovsky D, Daniel MT, et al. Proposals for the classification of the acute leukaemias. French-American-British (FAB) co-operative group. British Journal of Haematology. 1976;33:451–458
  12. Arthur DC, Berger R, Golomb HM, et al. The clinical significance of karyotype in acute myelogenous leukemia. Cancer Genetics and Cytogenetics. 1989;40:203–216
  13. Machnicki JL, Bloomfield CD. Chromosomal abnormalities in myelodysplastic syndromes and acute myeloid leukemia. Clinics in Laboratory Medicine. 1990;10:755–767
  14. Marcucci G, Mrozek K, Bloomfield CD. Molecular heterogeneity and prognostic biomarkers in adults with acute myeloid leukemia and normal cytogenetics. Current Opinion in Hematology. 2005;12:68–75
  15. Mrozek K, Heinonen K, de la CA, et al. Clinical significance of cytogenetics in acute myeloid leukemia. Seminars in oncology. 1997;24:17–31
  16. Swansbury GJ, Lawler SD, Alimena G, et al. Long-term survival in acute myelogenous leukemia: a second follow-up of the Fourth International Workshop on Chromosomes in Leukemia. Cancer Genetics and Cytogenetics. 1994;73:1–7
  17. Reddy ES, Rao VN, Papas TS. The erg gene: a human gene related to the ets oncogene. Proceedings of the National Academy of Sciences of the United States of America. 1987;84:6131–6135
  18. Hart AH, Corrick CM, Tymms MJ, et al. Human ERG is a proto-oncogene with mitogenic and transforming activity. Oncogene. 1995;10:1423–1430
  19. Petrovics G, Liu A, Shaheduzzaman S, et al. Frequent overexpression of ETS-related gene-1 (ERG1) in prostate cancer transcriptome. Oncogene. 2005;24:3847–3852
  20. Tomlins SA, Rhodes DR, Perner S, et al. Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer. Science. 2005;310:644–648
  21. Rajput AB, Miller MA, De LA, et al. Frequency of the TMPRSS2:ERG gene fusion is increased in moderate to poorly differentiated prostate cancers. Journal of Clinical Pathology. 2007;
  22. Demichelis F, Fall K, Perner S, et al. TMPRSS2:ERG gene fusion associated with lethal prostate cancer in a watchful waiting cohort. Oncogene. 2007;26:4596–4599
  23. Drabkin HA, Erickson P. Down syndrome and leukemia, an update. Progress in Clinical and Biological Research. 1995;393:169–176
  24. Papas TS, Watson DK, Sacchi N, et al. ETS family of genes in leukemia and Down syndrome. American Journal of Medical Genetics. Supplement. 1990;7:251–261
  25. Sorensen PH, Lessnick SL, Lopez-Terrada D, et al. A second Ewing's sarcoma translocation, t(21;22), fuses the EWS gene to another ETS-family transcription factor, ERG. Nature Genetics. 1994;6:146–151
  26. Zucman J, Melot T, Desmaze C, et al. Combinatorial generation of variable fusion proteins in the Ewing family of tumours. The EMBO Journal. 1993;12:4481–4487
  27. Giovannini M, Biegel JA, Serra M, et al. EWS-erg and EWS-Fli1 fusion transcripts in Ewing's sarcoma and primitive neuroectodermal tumors with variant translocations. The Journal of Clinical Investigation. 1994;94:489–496
  28. Marcucci G, Baldus CD, Ruppert AS, et al. Overexpression of the ETS-related gene, ERG, predicts a worse outcome in acute myeloid leukemia with normal karyotype: a Cancer and Leukemia Group B study. Journal of Clinical Oncology. 2005;23:9234–9242
  29. Bloomfield CD, Lawrence D, Byrd JC, et al. Frequency of prolonged remission duration after high-dose cytarabine intensification in acute myeloid leukemia varies by cytogenetic subtype. Cancer Research. 1998;58:4173–4179
  30. Steel G. Growth kinetics of tumors. Oxford: Clarendon Press; 1977;
  31. Guo W, Lasky JL, Wu H. Cancer stem cells. Pediatr Research. 2006;59:59R–64R
  32. Chang H, Salma F, Yi QL, et al. Prognostic relevance of immunophenotyping in 379 patients with acute myeloid leukemia. Leukemia Research. 2004;28:43–48
  33. Raspadori D, Damiani D, Lenoci M, et al. CD56 antigenic expression in acute myeloid leukemia identifies patients with poor clinical prognosis. Leukemia. 2001;15:1161–1164
  34. Mann KP, DeCastro CM, Liu J, et al. Neural cell adhesion molecule (CD56)-positive acute myelogenous leukemia and myelodysplastic and myeloproliferative syndromes. American Journal of Clinical Pathology. 1997;107:653–660
  35. Mao S, Frank RC, Zhang J, et al. Functional and physical interactions between AML1 proteins and an ETS protein, MEF: implications for the pathogenesis of t(8;21)-positive leukemias. Molecula and Cellular Biology. 1999;19:3635–3644
  36. Moore SD, Offor O, Ferry JA, et al. ELF4 is fused to ERG in a case of acute myeloid leukemia with a t(X;21) (q25-26;q22). Leukemia Research. 2006;30:1037–1042
  37. Lacorazza HD, Yamada T, Liu Y, et al. The transcription factor MEF/ELF4 regulates the quiescence of primitive hematopoietic cells. Cancer Cell. 2006;9:175–187
  38. Barjesteh van Waalwijk van Doorn-Khosrovani S, Erpelinck C, Meijer J, et al. Biallelic mutations in the CEBPA gene and low CEBPA expression levels as prognostic markers in intermediate-risk AML. The Hematology Journal. 2003;4:31–40
  39. 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
  40. Frohling S, Schlenk RF, Stolze I, et al. CEBPA mutations in younger adults with acute myeloid leukemia and normal cytogenetics: prognostic relevance and analysis of cooperating mutations. Journal of Clinical Oncology. 2004;22:624–633
  41. Bienz M, Ludwig M, Leibundgut EO, et al. Risk assessment in patients with acute myeloid leukemia and a normal karyotype. Cliniacl Cancer Research. 2005;11:1416–1424Erratum in: Clin Cancer Res. 2005; 11(15):5659)
  42. Zheng R, Friedman AD, Levis M, et al. Internal tandem duplication mutation of FLT3 blocks myeloid differentiation through suppression of C/EBPalpha expression. Blood. 2004;103:1883–1890
  43. Radomska HS, Basseres DS, Zheng R, et al. Block of C/EBP alpha function by phosphorylation in acute myeloid leukemia with FLT3 activating mutations. The Journal of Experimental Medicine. 2006;203:371–381
  44. Kottaridis PD, Gale RE, Frew ME, et al. The presence of a FLT3 internal tandem duplication in patients with acute myeloid leukemia (AML) adds important prognostic information to cytogenetic risk group and response to the first cycle of chemotherapy: analysis of 854 patients from the United Kingdom Medical Research Council AML 10 and 12 trials. Blood. 2001;98:1752–1759
  45. Meshinchi S, Woods WG, Stirewalt DL, et al. Prevalence and prognostic significance of Flt3 internal tandem duplication in pediatric acute myeloid leukemia. Blood. 2001;97:89–94
  46. Abu-Duhier FM, Goodeve AC, Wilson GA, et al. FLT3 internal tandem duplication mutations in adult acute myeloid leukaemia define a high-risk group. British Journal of Haematology. 2000;111:190–195
  47. Steudel C, Wermke M, Schaich M, et al. Comparative analysis of MLL partial tandem duplication and FLT3 internal tandem duplication mutations in 956 adult patients with acute myeloid leukemia. Genes Chromosomes Cancer. 2003;37:237–251
  48. Kuchenbauer F, Schnittger S, Look T, et al. Identification of additional cytogenetic and molecular genetic abnormalities in acute myeloid leukaemia with t(8;21)/AML1-ETO. British Journal of Haematology. 2006;134:616–619
  49. Kuchenbauer F, Kern W, Schoch C, et al. Detailed analysis of FLT3 expression levels in acute myeloid leukemia. Haematologica. 2005;90:1617–1625
  50. Zhang DE, Zhang P, Wang ND, et al. Absence of granulocyte colony-stimulating factor signaling and neutrophil development in CCAAT enhancer binding protein alpha-deficient mice. Proceedings of the National Academy of Sciences of the United States of America. 1997;94:569–574
  51. Falini B, Mecucci C, Tiacci E, et al. Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. The New England Journal of Medicine. 2005;352:254–266
  52. Baldus CD, Thiede C, Soucek S, et al. BAALC expression and FLT3 internal tandem duplication mutations in acute myeloid leukemia patients with normal cytogenetics: prognostic implications. Journal of Clinical Oncology. 2006;24:790–797
  53. Dohner K, Tobis K, Ulrich R, et al. Prognostic significance of partial tandem duplications of the MLL gene in adult patients 16 to 60 years old with acute myeloid leukemia and normal cytogenetics: a study of the Acute Myeloid Leukemia Study Group Ulm. Journal of Clinical Oncology. 2002;20:3254–3261
  54. Basecke J, Whelan JT, Griesinger F, et al. The MLL partial tandem duplication in acute myeloid leukaemia. British Journal of Haematology. 2006;135:438–449
  55. Whitman SP, Ruppert AS, Marcucci G, et al. Long-term disease-free survivors with cytogenetically normal acute myeloid leukemia and MLL partial tandem duplication: a Cancer and Leukemia Group B study. Blood. 2007;109:5164–5167
  56. Whitman SP, Liu S, Vukosavljevic T, et al. The MLL partial tandem duplication: evidence for recessive gain-of-function in acute myeloid leukemia identifies a novel patient subgroup for molecular-targeted therapy. Blood. 2005;106:345–352
  57. Gore SD, Baylin S, Sugar E, et al. Combined DNA methyltransferase and histone deacetylase inhibition in the treatment of myeloid neoplasms. Cancer Res. 2006;66:6361–6369
  58. Maslak P, Chanel S, Camacho LH, et al. Pilot study of combination transcriptional modulation therapy with sodium phenylbutyrate and 5-azacytidine in patients with acute myeloid leukemia or myelodysplastic syndrome. Leukemia. 2006;20:212–217
  59. Lee MG, Wynder C, Bochar DA, et al. Functional interplay between histone demethylase and deacetylase enzymes. Molecular Cellular Biology. 2006;26:6395–6402
  60. Tse KF, Novelli E, Civin CI, et al. Inhibition of FLT3-mediated transformation by use of a tyrosine kinase inhibitor. Leukemia. 2001;15:1001–1010
  61. Zeng Z, Sarbassov DD, Samudio IJ, et al. Rapamycin derivatives reduce mTORC2 signaling and inhibit AKT activation in AML. Blood. 2007;109:3509–3512
  62. Zeng Z, Samudio IJ, Zhang W, et al. Simultaneous inhibition of PDK1/AKT and Fms-like tyrosine kinase 3 signaling by a small-molecule KP372-1 induces mitochondrial dysfunction and apoptosis in acute myelogenous leukemia. Cancer Research. 2006;66:3737–3746
  63. Cammenga J, Horn S, Bergholz U, et al. Extracellular KIT receptor mutants, commonly found in core binding factor AML, are constitutively active and respond to imatinib mesylate. Blood. 2005;106:3958–3961
  64. Mesa RA, Loegering D, Powell HL, et al. Heat shock protein 90 inhibition sensitizes acute myelogenous leukemia cells to cytarabine. Blood. 2005;106:318–327
  65. Zhang WH, Srihari R, Day RN, et al. CCAAT/enhancer-binding protein alpha alters histone H3 acetylation at large subnuclear domains. The Journal of Biological Chemistry. 2001;276:40373–40376
  66. Desilets A, Gheorghiu I, Yu SJ, et al. Inhibition by deacetylase inhibitors of IL-1-dependent induction of haptoglobin involves CCAAT/Enhancer-binding protein isoforms in intestinal epithelial cells. Biochemical and Biophysical Research Communications. 2000;276:673–679
  67. Dombret H, Chastang C, Fenaux P, et al. A controlled study of recombinant human granulocyte colony-stimulating factor in elderly patients after treatment for acute myelogenous leukemia. AML Cooperative Study Group. The New England Journal of Medicine. 1995;332:1678–1683
  68. Lowenberg B, van Putten W, Theobald M, et al. Effect of priming with granulocyte colony-stumulating factor on the outcome of chemotherapy for acute myeloid leukemia. The New England Journal of Medicine. 2003;349:743–752
  69. Rowe JM, Neuberg D, Friedenberg W, et al. A phase 3 study of three induction regimens and of priming with GM-CSF in older adults with acute myeloid leukemia: a trial by the Eastern Cooperative Oncology Group. Blood. 2004;103:479–485
  70. Powles RL, Russell J, Lister TA, et al. Immunotherapy for acute myelogenous leukaemia: a controlled clinical study 2 1/2 years after entry of the last patient. British Journal of Cancer. 1977;35:265–272
  71. Foon KA, Smalley RV, Riggs CW, et al. The role of immunotherapy in acute myelogenous leukemia. Archives of Internal Medicine. 1983;143:1726–1731
  72. Greiner J, Dohner H, Schmitt M. Cancer vaccines for patients with acute myeloid leukemia–definition of leukemia-associated antigens and current clinical protocols targeting these antigens. Haematologica. 2006;91:1653–1661
  73. Stripecke R, Levine AM, Pullarkat V, et al. Immunotherapy with acute leukemia cells modified into antigen-presenting cells: ex vivo culture and gene transfer methods. Leukemia. 2002;16:1974–1983
  74. Galea-Lauri J, Darling D, Mufti G, et al. Eliciting cytotoxic T lymphocytes against acute myeloid leukemia-derived antigens: evaluation of dendritic cell-leukemia cell hybrids and other antigen-loading strategies for dendritic cell-based vaccination. Cancer Immunology, Immunotherapy. 2002;51:299–310
  75. Enninga J, Levy DE, Blobel G, et al. Role of nucleoporin induction in releasing an mRNA nuclear export block. Science. 2002;295:1523–1525
  76. Rosenblum JS, Blobel G. Autoproteolysis in nucleoporin biogenesis. Proceedings of the National Academy of Sciences of the United States of America. 1999;96:11370–11375

PII: S1521-6926(07)00100-4

doi: 10.1016/j.beha.2007.11.010

Best Practice & Research Clinical Haematology
Volume 21, Issue 1 , Pages 43-52 , March 2008