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

Best Practice and Research: Clinical Haematology

Volumn 21, Issue 1, 2008, Pages 43-52

  Nimer, Stephen D ^a  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

AML; BAALC; C EBP ; cytogenetics; ERG; FLT3 ITD; histone deacetylase; methyltransferase; MLL PTD; NPM; stem cell

Indexed keywords

BCG VACCINE; BRAIN AND ACUTE LEUKEMIA CYTOPLASMIC PROTEIN; CCAAT ENHANCER BINDING PROTEIN ALPHA; CD135 ANTIGEN; DNA METHYLTRANSFERASE INHIBITOR; FLUOROURACIL; GENE PRODUCT; GRANULOCYTE COLONY STIMULATING FACTOR; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; HISTONE DEACETYLASE INHIBITOR; HISTONE METHYLTRANSFERASE; NUCLEOPHOSMIN; TRANSCRIPTION FACTOR ELF 1; UNCLASSIFIED DRUG;

ACUTE GRANULOCYTIC LEUKEMIA; ADJUVANT THERAPY; CANCER ADJUVANT THERAPY; CANCER IMMUNOTHERAPY; CANCER RESISTANCE; CANCER SURVIVAL; CHROMOSOME TRANSLOCATION; CLINICAL TRIAL; CYTOGENETICS; DOSE RESPONSE; DRUG EFFICACY; DRUG MEGADOSE; DRUG TREATMENT FAILURE; ENZYME ACTIVITY; ENZYME INHIBITION; GENE EXPRESSION; GENE MUTATION; GENE SILENCING; GENETIC HETEROGENEITY; HEMATOPOIETIC STEM CELL; HUMAN; KARYOTYPE; LEUKEMIA REMISSION; MOLECULAR MECHANICS; NEUTROPENIA; NONHUMAN; OVERALL SURVIVAL; PRIORITY JOURNAL; PROGNOSIS; REVIEW;

CHROMOSOME ABERRATIONS; DRUG RESISTANCE, NEOPLASM; HEMATOPOIETIC STEM CELLS; HUMANS; KARYOTYPING; LEUKEMIA, MYELOID, ACUTE; MUTATION; NEOPLASM, RESIDUAL; TANDEM REPEAT SEQUENCES;

EID: 40749159082     PISSN: 15216926     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.beha.2007.11.010     Document Type: Review

References (76)

1. Nowell P.C., and Hungerford D.A. Chromosome studies on normal and leukemic human leukocytes. Journal of the National Cancer Institute 25 (1960) 85-109
2. Rowley J.D. Identification of the constant chromosome regions involved in human hematologic malignant disease. Science 216 (1982) 749-751
3. Lazzio C.B., and Lozzio B.B. Human chronic myelogenous leukemia cell-line with positive Philadelphia chromosome. Blood 45 (1975) 321-334
4. Koeffler H.P., and Golde D.W. Acute myelogenous leukemia: a human cell line responsive to colony-stimulating activity. Science 200 (1978) 1153-1154
5. Baltimore D. RNA-dependent DNA polymerase in virions of RNA tumour viruses. Nature 226 (1970) 1209-1211
6. Dulbecco R. Oncogenic viruses: the last twelve years. Cold Spring Harbor Symposia on Quantitative Biology 1 39 Pt (1975) 1-7
7. Temin H.M., and Mizutani S. RNA-dependent DNA polymerase in virions of Rous sarcoma virus. Nature 226 (1970) 1211-1213
8. Maxam A.M., and Gilbert W. A new method for sequencing DNA. Proceedings of the National Academy of Sciences of the United States of America 74 (1977) 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 1 51 Pt (1986) 263-273
10. Pinkel D., Straume T., and Gray J.W. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proceedings of the National Academy of Sciences of the United States of America 83 (1986) 2934-2938
11. Bennett J.M., Catovsky D., Daniel M.T., et al. Proposals for the classification of the acute leukaemias. French-American-British (FAB) co-operative group. British Journal of Haematology 33 (1976) 451-458
12. Arthur D.C., Berger R., Golomb H.M., et al. The clinical significance of karyotype in acute myelogenous leukemia. Cancer Genetics and Cytogenetics 40 (1989) 203-216
13. Machnicki J.L., and Bloomfield C.D. Chromosomal abnormalities in myelodysplastic syndromes and acute myeloid leukemia. Clinics in Laboratory Medicine 10 (1990) 755-767
14. Marcucci G., Mrozek K., and Bloomfield C.D. Molecular heterogeneity and prognostic biomarkers in adults with acute myeloid leukemia and normal cytogenetics. Current Opinion in Hematology 12 (2005) 68-75
15. Mrozek K., Heinonen K., de la C.A., et al. Clinical significance of cytogenetics in acute myeloid leukemia. Seminars in oncology 24 (1997) 17-31
16. Swansbury G.J., Lawler S.D., 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 73 (1994) 1-7
17. Reddy E.S., Rao V.N., and Papas T.S. The erg gene: a human gene related to the ets oncogene. Proceedings of the National Academy of Sciences of the United States of America 84 (1987) 6131-6135
18. Hart A.H., Corrick C.M., Tymms M.J., et al. Human ERG is a proto-oncogene with mitogenic and transforming activity. Oncogene 10 (1995) 1423-1430
19. Petrovics G., Liu A., Shaheduzzaman S., et al. Frequent overexpression of ETS-related gene-1 (ERG1) in prostate cancer transcriptome. Oncogene 24 (2005) 3847-3852
20. Tomlins S.A., Rhodes D.R., Perner S., et al. Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer. Science 310 (2005) 644-648
21. Rajput A.B., Miller M.A., De L.A., 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 26 (2007) 4596-4599
23. Drabkin H.A., and Erickson P. Down syndrome and leukemia, an update. Progress in Clinical and Biological Research 393 (1995) 169-176
24. Papas T.S., Watson D.K., Sacchi N., et al. ETS family of genes in leukemia and Down syndrome. American Journal of Medical Genetics. Supplement 7 (1990) 251-261
25. Sorensen P.H., Lessnick S.L., 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 6 (1994) 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 12 (1993) 4481-4487
27. Giovannini M., Biegel J.A., 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 94 (1994) 489-496
28. Marcucci G., Baldus C.D., Ruppert A.S., 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 23 (2005) 9234-9242
29. Bloomfield C.D., Lawrence D., Byrd J.C., et al. Frequency of prolonged remission duration after high-dose cytarabine intensification in acute myeloid leukemia varies by cytogenetic subtype. Cancer Research 58 (1998) 4173-4179
30. Steel G. Growth kinetics of tumors (1977), Clarendon Press, Oxford
31. Guo W., Lasky III J.L., and Wu H. Cancer stem cells. Pediatr Research 59 (2006) 59R-64R
32. Chang H., Salma F., Yi Q.L., et al. Prognostic relevance of immunophenotyping in 379 patients with acute myeloid leukemia. Leukemia Research 28 (2004) 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 15 (2001) 1161-1164
34. Mann K.P., DeCastro C.M., Liu J., et al. Neural cell adhesion molecule (CD56)-positive acute myelogenous leukemia and myelodysplastic and myeloproliferative syndromes. American Journal of Clinical Pathology 107 (1997) 653-660
35. Mao S., Frank R.C., 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 19 (1999) 3635-3644
36. Moore S.D., Offor O., Ferry J.A., et al. ELF4 is fused to ERG in a case of acute myeloid leukemia with a t(X;21) (q25-26;q22). Leukemia Research 30 (2006) 1037-1042
37. Lacorazza H.D., Yamada T., Liu Y., et al. The transcription factor MEF/ELF4 regulates the quiescence of primitive hematopoietic cells. Cancer Cell 9 (2006) 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 4 (2003) 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 100 (2002) 2717-2723
40. Frohling S., Schlenk R.F., 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 22 (2004) 624-633
41. Bienz M., Ludwig M., Leibundgut E.O., et al. Risk assessment in patients with acute myeloid leukemia and a normal karyotype. Cliniacl Cancer Research 11 (2005) 1416-1424 Erratum in: Clin Cancer Res. 2005; 11(15):5659)
42. Zheng R., Friedman A.D., Levis M., et al. Internal tandem duplication mutation of FLT3 blocks myeloid differentiation through suppression of C/EBPalpha expression. Blood 103 (2004) 1883-1890
43. Radomska H.S., Basseres D.S., 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 203 (2006) 371-381
44. Kottaridis P.D., Gale R.E., Frew M.E., 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 98 (2001) 1752-1759
45. Meshinchi S., Woods W.G., Stirewalt D.L., et al. Prevalence and prognostic significance of Flt3 internal tandem duplication in pediatric acute myeloid leukemia. Blood 97 (2001) 89-94
46. Abu-Duhier F.M., Goodeve A.C., Wilson G.A., et al. FLT3 internal tandem duplication mutations in adult acute myeloid leukaemia define a high-risk group. British Journal of Haematology 111 (2000) 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 37 (2003) 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 134 (2006) 616-619
49. Kuchenbauer F., Kern W., Schoch C., et al. Detailed analysis of FLT3 expression levels in acute myeloid leukemia. Haematologica 90 (2005) 1617-1625
50. Zhang D.E., Zhang P., Wang N.D., 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 94 (1997) 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 352 (2005) 254-266
52. Baldus C.D., 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 24 (2006) 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 20 (2002) 3254-3261
54. Basecke J., Whelan J.T., Griesinger F., et al. The MLL partial tandem duplication in acute myeloid leukaemia. British Journal of Haematology 135 (2006) 438-449
55. Whitman S.P., Ruppert A.S., 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 109 (2007) 5164-5167
56. Whitman S.P., 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 106 (2005) 345-352
57. Gore S.D., Baylin S., Sugar E., et al. Combined DNA methyltransferase and histone deacetylase inhibition in the treatment of myeloid neoplasms. Cancer Res 66 (2006) 6361-6369
58. Maslak P., Chanel S., Camacho L.H., 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 20 (2006) 212-217
59. Lee M.G., Wynder C., Bochar D.A., et al. Functional interplay between histone demethylase and deacetylase enzymes. Molecular Cellular Biology 26 (2006) 6395-6402
60. Tse K.F., Novelli E., Civin C.I., et al. Inhibition of FLT3-mediated transformation by use of a tyrosine kinase inhibitor. Leukemia 15 (2001) 1001-1010
61. Zeng Z., Sarbassov D.D., Samudio I.J., et al. Rapamycin derivatives reduce mTORC2 signaling and inhibit AKT activation in AML. Blood 109 (2007) 3509-3512
62. Zeng Z., Samudio I.J., 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 66 (2006) 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 106 (2005) 3958-3961
64. Mesa R.A., Loegering D., Powell H.L., et al. Heat shock protein 90 inhibition sensitizes acute myelogenous leukemia cells to cytarabine. Blood 106 (2005) 318-327
65. Zhang W.H., Srihari R., Day R.N., et al. CCAAT/enhancer-binding protein alpha alters histone H3 acetylation at large subnuclear domains. The Journal of Biological Chemistry 276 (2001) 40373-40376
66. Desilets A., Gheorghiu I., Yu S.J., 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 276 (2000) 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 332 (1995) 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 349 (2003) 743-752
69. Rowe J.M., 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 103 (2004) 479-485
70. Powles R.L., Russell J., Lister T.A., 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 35 (1977) 265-272
71. Foon K.A., Smalley R.V., Riggs C.W., et al. The role of immunotherapy in acute myelogenous leukemia. Archives of Internal Medicine 143 (1983) 1726-1731
72. Greiner J., Dohner H., and Schmitt M. Cancer vaccines for patients with acute myeloid leukemia-definition of leukemia-associated antigens and current clinical protocols targeting these antigens. Haematologica 91 (2006) 1653-1661
73. Stripecke R., Levine A.M., Pullarkat V., et al. Immunotherapy with acute leukemia cells modified into antigen-presenting cells: ex vivo culture and gene transfer methods. Leukemia 16 (2002) 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 51 (2002) 299-310
75. Enninga J., Levy D.E., Blobel G., et al. Role of nucleoporin induction in releasing an mRNA nuclear export block. Science 295 (2002) 1523-1525
76. Rosenblum J.S., and Blobel G. Autoproteolysis in nucleoporin biogenesis. Proceedings of the National Academy of Sciences of the United States of America 96 (1999) 11370-11375