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Original Article

Molecular and Clinical Advances in Core Binding Factor Primary Acute Myeloid Leukemia: A Paradigm for Translational Research in Malignant Hematology

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Pages 768-780 | Published online: 11 Jun 2009

References

  • Bloomfleld C D, Goldman A, Hossfeld D., et al. Fourth International Workshop on Chromosomes in Leukemia 1982: clinical significance of chromosomal abnormalities in acute nonlymphoblastic leukemia. Cancer Genet Cytogenet 1984; 11: 332–350
  • Mrózek K, Bloomfield C D. Chromosome aberrations in de novo acute myeloid leukemia in adults: clinical implications. Rev Clin Exp Hematol 1998; 5: 44–67
  • Look A. Oncogenic transcription factors in human acute leukemia. Science 1997; 278: 1059–1064
  • Caligiuri M A, Strout M P, Gilliland D G. Molecular biology of acute myeloid leukemia. Semin Oncol 1997; 24: 32–44
  • Mrözek K, Heinonen K, de la Chapelle A., et al. Clinical significance of cytogenetics in acute myeloid leukemia. Semin Oncol 1997; 24: 17–31
  • Ito Y. Structural alterations in the transcription factor PEBP2/ CBF linked to four different types of leukemia. J Cancer Res Clin Oncol 1996; 122: 266–274
  • van der Reijden B A, van Ommen G J, Hagemeijer A, et al. Acute myelogenous leukemia: a disorder of gene splicing?. Leukemia 1996; 10: 204–206
  • van der Reijden B A, Bloomfield C D, Touw I P, et al. Acute leukemias with structurally altered core binding factor subunits (t(8;21), inv(16), t(12;21)), 27–28 June 1997, Rotterdam, The Netherlands. Leukemia 1997; 11: 2217–2219
  • Erickson P, Gao J, Chang K S, et al. Identification of breakpoints in t(8;21) acute myelogenous leukemia and isolation of a fusion transcript, AML1/ETO, with similarity to Drosophila segmentation gene, runt. Blood 1992; 80: 1825–1831
  • Nucifora G, Birn D J, Erickson P, et al. Detection of DNA rearrangements in the AML1 and ETO loci and of an AML1/ETO fusion mRNA in patients with t(8;21) acute myeloid leukemia. Blood 1993; 81: 883–888
  • Tenen D, Hromas R, Licht J, et al. Transcription factors, normal myeloid development, and leukemia. Blood 1997; 90: 489–519
  • Kitabayashi I, Yokoyama A, Schimizu K, et al. Interaction and functional cooperation of the leukemia-associated factors AML1 and p300 in myeloid cell differentiation. EMBO J 1998; 17: 2994–3004
  • Sakakura C, Yamaguchi-Iwai Y, Satake M, et al. Growth inhibition and induction of differentiation of t(8;21) acute myeloid leukemia cells by the DNA-binding domain of PEBP2 and the AML1/MTG8(ETO) specific antisense oligonucleotide. Proc Natl Acad Sci USA 1994; 91: 11723–11727
  • Le X F, Claxton D, Kornblau S, et al. Characterization of the ETO and AML1-ETO proteins involved in acute myelogenous leukemia. Eur J Hematol 1998; 60: 217–225
  • Miyoshi H, Kozu T, Shimizu K, et al. The t(8;21) translocation in acute myeloid leukemia results in production of an AML1-MTG8 fusion transcript. EMBO J 1993; 12: 2712–2715
  • Erickson P F, Dessev G, Lasher R S, et al. ETO and AML1 phosphoproteins are expressed in CD34+ hematopoietic progenitors: implications for t(8;21) leukemogenesis and monitoring residual disease. Blood 1996; 88: 1813–1823
  • Wang J. HT, Redner R L, Kajigaya S, et al. ETO, fusion partner in t(8;21) acute myeloid leukemia, represses transcription by interaction with the human N-CoR/mSin3/HDAC1 complex. Proc Natl Acad Sci USA 1998; 95: 10860–10865
  • Rhoades K L, Hetherington J C, Rowley J D, et al. Synergistic upregulation of the myeloid-specific promoter for the macrophage colony-stimulating factor receptor by AML1 and the t(8; 21) fusion protein may contribute to leukemogenesis. Proc Natl Acad Sci USA 1996; 93: 11895–11900
  • Okuda T, van Deursen J, Hiebert S W, et al. AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal f et al liver hematopoiesis. Cell 1996; 84: 321–330
  • Yergeau D A, Hetherington C. J, Wang Q, et al. Embryonic lethality and impairment of haematopoiesis in mice heterozygous for an AML1-ETO fusion gene. Nat Genet 1997; 15: 303–306
  • Okuda T, Cai Z, Yang S, et al. Expression of a knocked-in AML1/ ETO leukemia gene inhibits the establishment of normal definitive hematopoiesis and directly generates dysplastic hematopoietic progenitors. Blood 1998; 91: 3134–3143
  • Hetherington C J, Yergeau D A, Tenen D G, et al. Inducible AML1 ETO expression in transgenic mice. Blood 1997; 90(Suppl 1)59a, (abstr)
  • Liu P, Tarle S A, Hajra A, et al. Fusion between transcription factor CBFb/PEBP2b and a myosin heavy chain in acute myeloid leukemia. Science 1993; 261: 1041–1044
  • van der Reijden B A, Dauwerse J G, Wessels J W, et al. A gene for a myosin peptide is disrupted by the inv(16)(p13q22) in acute nonlymphocytic leukemia M4Eo. Blood 1993; 82: 2948–2952
  • Claxton D F, Liu P, Hsu H B, et al. Detection of fusion transcripts generated by the inversion 16 chromosome in acute myelogenous leukemia. Blood 1994; 83: 1750–1756
  • Hebert J, Cayuela J, Daniel M T, et al. Detection of minimal residual disease in acute myelomonocytic leukemia with abnormal marrow eosinophils by nested polymerase chain reaction with allele specific amplification. Blood 1994; 84: 2291–2296
  • Liu P P, Hajra A, Wijmenga C, et al. Molecular pathogenesis of the chromosome 16 inversion in the M4Eo subtype of acute myeloid leukemia. Blood 1995; 85: 2289–2302
  • Dissing M, Le Beau M, Pedersen-Bjergaard J. Inversion of chromosome 16 and uncommon rearrangements of the CBFB and MYH11 genes in therapy-related acute myeloid leukemia: rare events related to DNA-topoisomerase II inhibitors?. J Clin Oncol 1998; 16: 1890–1896
  • Adya N, Stacy T, Speck N A, et al. The leukemic protein core binding factor beta (CBFbeta)-smooth-muscle myosin heavy chain sequesters CBFalpha2 into cytoskel et al filaments and aggregates. Mol Cell Biol 1998; 18: 7432–7443
  • Castilla L H, Wijmenga C, Wang Q, et al. Failure of embryonic hematopoiesis and lethal hemorrhages in mouse embryos heterozygous for a knocked-in leukemia gene CBFB-MYH11. Cell 1996; 87: 687–696
  • Wang Q, Stacy T, Miller J D, et al. The CBFb subunit is essential for CBFa2 (AML1) function in vivo. Cell 1996; 87: 697–708
  • Castilla L, Liu P. Analysis of a conditional Cbfb-MYH11 knockin for inv(16) acute myeloid leukemia. Blood 1997; 90(Suppl 1)58a, (abstr)
  • Castilla L H, Bodine D M, Garrett L, et al. Leukemia development by the induction of a second “hit” in chimeric mice containing Cbfb/MYH11 ES cells. Blood 1998; 92(Suppl 1)214a, (abstr)
  • Dohner H, Stilgenbauer S, Fischer K, et al. Diagnosis and monitoring of chromosome aberrations in hematological malignancies by fluorescence in situ hybridization. Stem Cells 1995; 13: 76–82
  • Fischer K, Scholl C, Salat J, et al. Design and validation of DNA probe sets for a comprehensive interphase cytogenetic analysis of acute myeloid leukemia. Blood 1996; 88: 3962–3971
  • Andrieu V, Radford-Weiss I, Troussard X, et al. Molecular detection of t(8;21)/AML1-ETO in AML M1/M2: Correlation with cytogenetics, morphology and immunophenotype. Br J Haematol 1996; 92: 855–865
  • Langabeer S E, Walker H, Rogers J R, et al. Incidence of AML1/ ETO fusion transcripts in patients entered into the MRC AML trials. Br J Haematol 1997; 99: 925–928
  • Langabeer S E, Walker H, Gale R E, et al. Frequency of CBFb/ MYH11 fusion transcripts in patients entered into the UK MRC AML trials. Br J Haematol 1997; 96: 736–739
  • Langabeer S E, Grimwade D, Walker H., et al. A study to determine whether trisomy 8, deleted 9q and trisomy 22 are markers of cryptic rearrangements of PML/RARa, AML1/ETO. CBFB/ MYH11 respectively in acute myeloid leukemia. Br J Haematol 1998; 101: 338–340
  • Mrözek K, Prior T, Edwards C, et al. A comparison of cytogenetic and molecular genetic detection of t(8;21)(q22;q22) and inv(16)(p13q22) in adult de novo acute myeloid leukemia (AML): a Cancer and Leukemia Group B study. Blood 1998; 92(Suppl 1)77a, (abstr)
  • Mitelman F. Catalog of Chromosome Aberration in Cancer, 5th ed. Wiley-Liss, New York 1994
  • Fourth International Workshop on Chromosomes in Leukemia, 1982 Overview of association between chromosome pattern and cell morphology, age, sex, and race. Cancer Genet Cytogenet 1984; 11: 265–274
  • Nakamura H, Kuriyama K, Sadamori N, et al. Morphological subtyping of acute myeloid leukemia with maturation (AML-M2): homogeneous pink-colored cytoplasm of mature neutrophils is most characteristic of AML-M2 with t(8;21). Leukemia 1997; 11: 651–655
  • Le Beau M M, Larson R A, Bitter M A, et al. Association of an inversion of chromosome 16 with abnormal marrow eosinophils in acute myelomonocytic leukemia: a unique cytogenetic-clinicopathological association. N Engl J Med 1983; 309: 630–636
  • Grois N., Nowotny H., Tyl E, et al. Is trisomy 22 in acute myeloid leukemia a primary abnormality or only a secondary change associated with inversion 16?. Cancer Genet Cytogenet 1989; 43: 119–129
  • Costello R, Sainty D, Lecine P., et al. Detection of CBFb/MYH 11 fusion transcripts in acute myeloid leukemia: heterogeneity of cytological and molecular characteristics. Leukemia 1997; 11: 644–650
  • Dastugue N, Payen C, Lafage-Pochitaloff M, et al. Prognostic significance of karyotype in de novo adult acute myeloid leukemia. The BGMT group. Leukemia 1995; 9: 1491–1498
  • Groupe Francais de Cytogeneique Hematologique. Acute myeloid leukemia with an 8: 21 translocation. A report of 148 cases from the Groupe Francais de Cytogenetique Hematologique. Cancer Genet Cytogenet 1990; 44: 169–179
  • Schoch C, Haase D, Haferlach T, et al. Fifty-one patients with acute myeloid leukemia and translocation t(8:21)(q22;q22): an additional deletion in 9q is an adverse prognostic factor. Leukemia 1996; 10: 1288–1295
  • Mertens F, Johansson B., Mitelman F. Age- and gender-related heterogeneity of cancer chromosome aberrations. Cancer Genet Cytogenet 1993; 70: 6–11
  • Haferlach T, Bennett J M, Loffler H, et al. Acute myeloid leukemia with translocation (8;21). Cytomorphology, dysplasia and prognostic factors in 41 cases. AML Cooperative Group and ECOG. Leuk Lymph 1996; 23: 227–234
  • Byrd J C, Weiss R B, Arthur D C, et al. Extramedullary leukemia adversely affects hematologic complete remission rate and overall survival in patients with t(8;21)(q22;q22): Results from Cancer and Leukemia Group B 8461. J Clin Oncol 1997; 15: 466–475
  • O'Brien S, Kantarjian H M, Keating M, et al. Association of granulocytosis with poor prognosis in patients with acute myelogenous leukemia and translocation of chromosomes 8 and 21. J Clin Oncol 1989; 7: 1081–1086
  • Schoch C, Haase D, Haferlach T, et al. Secondary chromosome aberrations in acute myeloid leukemia with t(8;21)(q22; q22), inv(16)(p13q22) or t(15;17)(q22;q21). Blood 1995; 86: 43a, (abstr)
  • Baer M R, Stewart C C, Lawrence D, et al. Expression of the neural cell adhesion molecule CD56 is associated with short remission duration and survival in acute myeloid leukemia with t(8;21)(q22;q22). Blood 1997; 90: 1643–1650
  • Marlton P, Keating M, Kantarjian H, et al. Cytogenetic and clinical correlates in AML patients with abnormalities of chromosome 16. Leukemia 1995; 9: 965–971
  • Campbell L J, Challis J, Fok T., et al. Chromosome 16 abnormalities associated with myeloid malignancies. Genes Chromosomes Cancer 1991; 3: 55–61
  • Adriaansen H J, Boekhorst P AW, Hagemeijer A M, et al. Acute myeloid leukemia M4 with bone marrow eosinophilia (M4E0) and inv(16)(p13q22) exhibits a specific immunophenotype with CD2 expression. Blood 1993; 81: 3043–3051
  • Tosi P, Visani G, Ottaviani E, et al. Inv(16) acute myeloid leukemia cells show an increased sensitivity to cytosine arabinoside in vitro. Eur J Haematol 1998; 60: 161–165
  • Kuss B J, Deeley R, Cole S P, et al. The biological significance of the multidrug resistance gene MRP in inversion 16 leukemias. Leuk Lymph 1996; 20: 357–364
  • Banker D E, Radich J, Becker A., et al. The t(8;21) translocation is not consistently associated with high Bcl-2 expression in de novo acute myeloid leukemias of adults. Clin Cancer Res 1998; 4: 3051–3062
  • Skipper H E, Schaebel F, Wilcox W S. Experimental evaluation of potential anticancer agents. XIII. On the criteria and kinetics associated with “curability” of experimental leukemia. Cancer Chemother Rep 1964; 35: 1–11
  • Wolff S N, Herzig R. H., Fay J W, et al. High-dose cytarabine and daunorubicin as consolidation therapy for acute myeloid leukemia in first remission: long term follow-up and results. J Clin Oncol 1989; 7: 1260–1267
  • Bloomfield C D, Herzig G P, Peterson B A, et al. Long-term survival of patients with acute myeloid leukemia. Updated results from two trials evaluating postinduction chemotherapy. Cancer 1997; 80(11 Suppl)2186–2190
  • Mayer R J, Davis R, Schiffer B. CA., et al. Intensive postremission chemotherapy in adults with acute myeloid leukemia. N Engl J Med 1994; 331: 896–903
  • Bloomfield C D, Lawrence D, Byrd J C, et al. Frequency of prolonged remission duration following high-dose cytarabine intensification in acute myeloid leukemia varies by cytogenetic subtype. Cancer Res 1998; 58: 4173–4179
  • Bloomfield C D, Shuma C, Regal L, et al. Long-term survival of patients with acute myeloid leukemia. A third follow-up of the Fourth International Workshop on Chromosomes in Leukemia. Cancer 1997; 80(II Suppl)2191–2198
  • Byrd J C, Dodge R, Carroll A, et al. Adult acute myeloid leukemia (AML) patients (pts) with t(8;21)(q22;q22) have a superior outcome when repetitive cycles of high-dose cytarabine (HiDAC) are administered. Blood 1998; 92(Suppl 1)312a
  • Gale P R, Horowitz M M, Weiner R S, et al. Impact of cytogenetic abnormalities on outcome of bone marrow transplants in acute myelogenous leukemia in first remission. Bone Marrow Transplant 1995; 16: 203–208
  • Ferrant A, Labopin M, Frassoni F, et al. Karyotype in acute myeloblastic leukemia: Prognostic significance for bone marrow transplantation in first remission. A European Group for Blood and Marrow Transplantation study. Blood 1997; 90: 2921–2938
  • 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 AML 10 trial. Blood 1998; 92: 2322–2333
  • Burnett A K, Wheatly K, Langabeer S., et al. Outcome of acute myeloid leukemias affecting core binding factor subunits: The UK MRC experience. Blood 1997; 90(Suppl 1)390a, (abstr)
  • Radich J P, Gehly G, Gooley T, et al. Polymerase chain reaction detection of the BCR-ABL fusion transcript after allogeneic marrow transplantation for chronic myeloid leukemia: Results and implications in 346 patients. Blood 1995; 85: 2632–2638
  • Lo Coco F, Diverio D, Avvisati G, et al. Prospective RT-PCR monitoring of minimal residual disease in acute promyelocytic leukemia (APL) patients enrolled in the multicentric GIMEMA-AIEOP “AIDA” trial. Blood 1997; 90(Suppl 1)390a, (abstr)
  • Slack J. Recent Advances in the Biology and Treatment of Acute Promyelocytic Leukemia. ASCO Educational Book. American Society of Clinical Oncology, Spring, Alexandria, VA 1998; 54–65
  • Nucifora G, Larson R A, Rowley J D. Persistence of the 8;21 translocation in patients with acute myeloid leukemia type M2 in longterm remission. Blood 1993; 82: 712–715
  • Kusec R, Laczika K, Knobl P, et al. AML1/ETO fusion mRNA can be detected in remission blood samples of all patients with t(8;21) acute myeloid leukemia after chemotherapy or autologous bone marrow transplantation. Leukemia 1994; 8: 735–739
  • Saunders M J, Tobal K, Yin J A. Detection of t(8;21) by reverse transcriptase polymerase chain reaction in patients in remission of acute myeloid leukaemia type M2 after chemotherapy or bone marrow transplantation. Leuk Res 1994; 18: 891–895
  • Jurlander J, Caligiuri M A, Ruutu T, et al. Persistence of the AML1/ETO fusion transcript in patients treated with allogeneic bone marrow transplantation for t(8;21) leukemia. Blood 1996; 88: 2183–2191
  • Muto A, Mori S, Matsushita H, et al. Serial quantification of minimal residual disease of t(8;21) acute myelogenous leukaemia with RT-competitive PCR assay. Br J Haematol 1996; 95: 85–94
  • Tobal K, Yin J A. Monitoring of minimal residual disease by quantitative reverse transcriptase-polymerase chain reaction for AML1-MTG8 transcripts in AML-M2 with t(8;21). Blood 1996; 88: 3704–3709
  • Marcucci G, Caligiuri M A, Bloomfield C D. Defining the “absence” of the CBFb/MYH11 fusion transcript in patients with acute myeloid leukemia and inversion of chromosome 16 to predict long-term complete remission: a call for definitions [letter]. Blood 1997; 90: 5022–5024
  • Costello R, Sainty D, Blaise D, et al. Prognosis value of residual disease monitoring by polymerase chain reaction in patients with CBF beta/MYH11-positive acute myeloblastic leukemia [letter]. Blood 1997; 89: 2222–2223
  • Evans P A, Short M A, Jack A S, et al. Detection and quantitation of the CBFbeta/MYH11 transcripts associated with the inv(16) in presentation and follow-up samples from patients with AML. Leukemia 1997; 11: 364–369
  • Laczika K, Novak M, Hilgarth B, et al. Competitive CBFbeta/ MYH11 reverse-transcription polymerase chain reaction for quantitative assessment of minimal residual disease during postremission therapy in acute myeloid leukemia with inversion(16): a pilot study. J Clin Oncol 1998; 16: 1519–1525
  • Marcucci G, Livak K J, Bi W L, et al. Detection of the AML1/ETO fusion transcript in patients with t(8;21)-associated AML using a novel “real time” quantitative RT-PCR assay. Leukemia 1998; 12: 1482–1489
  • Schiffer C A, Lee E J, Tomiyasu T, et al. Prognostic impact of cytogenetic abnormalities in patients with de novo acute non-lymphocytic leukemia. Blood 1989; 73: 263–270
  • Fenaux P, Lai J L, Preudhomme C, et al. Is translocation (8;21) a “favorable” cytogenetic rearrangement in acute myeloid leukemia?. Nouv Rev Fr Hematol 1990; 32: 179–182
  • Tien H F, Wang C H, Lin M T, et al. Correlation of cytogenetic results with immunophenotype, genotype, clinical features, and ras mutation in acute myeloid leukemia. A study of 235 Chinese patients in Taiwan. Cancer Genet Cytogenet 1995; 84: 60–68
  • Marosi C, Koller U, Koller-Weber E, et al. Prognostic impact of karyotype and immunologic phenotype in 125 adult patients with de novo AML. Cancer Genet Cytogenet 1992; 61: 14–25
  • Joventino L P, Stock W, Lane N J, et al. Certain HLA antigens are associated with specific morphologic and cytogenetic subsets of acute myeloid leukemia. Leukemia 1995; 9: 433–439
  • Bloomfield CD for the Cancer and Leukemia Group B (CALGB). Clinical outcome of acute myeloid leukemia (AML) involving CBF. Leukemia 1997; 11: 2224, (abstr)
  • Billstrom R, Johansson B, Fioretos T, et al. Poor survival in t(8; 21)(q22;q22)-associated acute myeloid leukaemia with leukocytosis. Eur J Haematol 1997; 59: 47–52
  • Berger R, Bernheim A, Ochoa-Noguera M E, et al. Prognostic significance of chromosomal abnormalities in acute nonlymphocytic leukemia: a study of 343 patients. Cancer Genet Cytogenet 1987; 28: 293–299
  • Keating M J, Smith T C, Kantarjian H, et al. Cytogenetic pattern in acute myelogenous leukemia: a major reproducible determinant of outcome. Leukemia 1988; 2: 403–412
  • Plantier I, Lai J L, Wattel E, et al. lnv(16) may be one of the only “favorable” factors in acute myeloid leukemia: a report on 19 cases with prolonged follow-up. Leuk Res 1994; 18: 885–888

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