Transcriptional repression of the RUNX3/AML2 gene by the t(8;21) and inv(16) fusion proteins in acute myeloid leukemia

Blood

Volumn 112, Issue 8, 2008, Pages 3391-3402

  Cheng, Chi Keung ^a   Li, Libby ^a   Cheng, Suk Hang ^a   Lau, Kin Mang ^a,b   Chan, Natalie P H ^a   Wong, Raymond S M ^a   Shing, Matthew M K ^a   Li, Chi Kong ^a   Ng, Margaret H L ^a,b  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

AMSACRINE; ASPARAGINASE; CORE BINDING FACTOR BETA; CYTARABINE; DAUNORUBICIN; ETOPOSIDE; MITOXANTRONE; MYOSIN HEAVY CHAIN; PROTEIN ETO; REPRESSOR PROTEIN; TRANSCRIPTION FACTOR RUNX1; TRANSCRIPTION FACTOR RUNX3; UNCLASSIFIED DRUG; RUNX3 PROTEIN, HUMAN;

ACUTE GRANULOCYTIC LEUKEMIA; ADULT; AGED; ARTICLE; BINDING SITE; CANCER SURVIVAL; CHILD; CHROMOSOME 16; CHROMOSOME INVERSION; CHROMOSOME TRANSLOCATION 21; CHROMOSOME TRANSLOCATION 8; CONTROLLED STUDY; FEMALE; GENE INACTIVATION; GENE REPRESSION; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROGNOSIS; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN METHYLATION; ADOLESCENT; BIOSYNTHESIS; CHROMOSOME 21; CHROMOSOME 8; GENE TRANSLOCATION; GENETIC TRANSCRIPTION; GENETICS; INFANT; MIDDLE AGED; MORTALITY; PRESCHOOL CHILD;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, PAIR 8; CORE BINDING FACTOR ALPHA 3 SUBUNIT; FEMALE; HUMANS; INFANT; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; TRANSCRIPTION, GENETIC; TRANSLOCATION, GENETIC;

EID: 54049106547     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2008-02-137083     Document Type: Article

References (59)

1. Ogawa E, Inuzuka M, Maruyama M, et al. Molecular cloning and characterization of PEBP2 beta, the heterodimeric partner of a novel Drosophila runt-related DNA binding protein PEBP2 alpha. Virology. 1993;194:314-331.
2. Okuda T, van Deursen J, Hiebert SW, Grosveld G, Downing JR. AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis. Cell. 1996;84:321-330.
3. Otto F, Thornell AP, Grompton T, et al. Cbfal, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. Cell. 1997;89:765-771.
4. Marmigere F, Montelius A, Wegner M, Groner Y, Reichardt LF, Ernfors P. The Runx1/AML1 transcription factor selectively regulates development and survival of TrkA nociceptive sensory neurons. Nat Neurosci. 2006;9:180-187.
5. Wang X, Blagden G, Fan J, et al. Runx1 prevents wasting, myofibrillar disorganization, and autophagy of skeletal muscle. Genes Dev. 2005; 19: 1715-1722.
6. Inoue K, Ozaki S, Shiga T, et al. Runx3 controls the axonal projection of proprioceptive dorsal root ganglion neurons. Nat Neurosci. 2002;5:946-954.
7. Taniuchi I, Osato M, Egawa T, et al. Differential requirements for Runx proteins in CD4 repression and epigenetic silencing during T lymphocyte development. Cell. 2002;111:621-633.
8. Li QL, Ito K, Sakakura C, et al. Gausal relationship between the loss of RUNX3 expression and gastric cancer. Cell. 2002;109:113-124.
9. Puig-Kroger A, Corbi A. RUNX3: a new player in myeloid gene expression and immune response. J Cell Biochem. 2006;98:744-756.
10. Le XF, GronerY, Kornblau SM.etal. Regulation of AML2/CBFA3 in hematopoietic cells through the retinoic acid receptor a-dependent signaling pathway. J Biol Chem. 1999;274:21651-21658.
11. Okumura AJ, Peterson LF, Lo MC, Zhang DE. Expression of AML/Runx and ETO/MTG family members during hematopoietic differentiation of embryonic stem cells. Exp Hematol. 2007;35: 978-988.
12. Goyama S, Yamaguchi Y, Imai Y, et al. The transcriptionally active form of AML1 is required for hematopoietic rescue of the AML1-deficient embryonic para-aortic splanchnopleural (P-Sp) region. Blood. 2004;104:3558-3564.
13. Fukushima-Nakase Y, Naoe Y, Taniuchi I, Hosoi H, Sugimoto T, Okuda T. Shared and distinct roles mediated through C-terminal subdomains of acute myeloid leukemia/Runt-related transcription factor molecules in murine development. Blood. 2005;105:4298-4307.
14. Kalev-Zylinska ML, Horsfield JA, Flores MV, et al. Runx3 is required for hematopoietic development in zebrafish. Dev Dyn. 2003;228:323-336.
15. Otto F, Stock M, Fliegauf M, Fenaux P, Preudhomme C, Lubbert M. Absence of somatic mutations within the Runt domain of AML2/RUNXS in acute myeloid leukemia. Leukemia. 2003;17:1677-1678.
16. Speck NA, Gilliland DG. Core-binding factors in haematopoiesis and leukaemia. Nat Rev Cancer. 2002:2:502-513.
17. Peterson LF, Zhang DE. The 8;21 translocation in leukemogenesis. Oncogene. 2004;23:4255-4262.
18. Lutterbach B, Westendorf JJ, Linggi B, et al. ETO, a target of t(8;21) in acute leukemia, interacts with the N-CoR and mSin3 corepressors. Mol Cell Biol. 1998;18:7176-7184.
19. Frank R, Zhang J, Uchida H, Meyers S, Hiebert SW, Nimer SD. The AML1/ETO fusion protein blocks transactivation of the GM-CSF promoter by AML1B. Oncogene. 1995;11:2667-2674.
20. Linggi B, Muller-Tidow C, van de Locht L, et al. The t(8;21) fusion protein, AML1-ETO, specifically represses the transcription of the p. 14 ARF tumor suppressor in acute myeloid leukemia. Nat Med. 2002;8:743-750.
21. Yang G, Khalaf W, van de Locht L, et al. Transcriptional repression of the neurofibromatosis-1 tumor suppressor by the t(8;21) fusion protein. Mol Cell Biol. 2005;25:5869-5879.
22. Zhang J, Kalkum M, Yamamura S, Chait BT, Roeder RG. E protein silencing by the leukemogenic AML1-ETO fusion protein. Science. 2004;305: 1286-1289.
23. Vangala RK, Heiss-Neumann MS, Rangatia JS, et al. The myeloid master regulator transcription factor PL). 1 is inactivated by AML1-ETO in t(8; 21) myeloid leukemia. Blood. 2003;101:270-277.
24. Liu P, Tarle SA, Hajra A, et al. Fusion between transcription factor CBF beta/P EBP2 beta and a myosin heavy chain in acute myeloid leukemia. Science. 1993;261:1041-1044.
25. Shigesada K, van de Sluis B, Liu PP. Mechanism of leukemogenesis by the inv(16) chimeric gene CBFB/PEBP2B-MHY11. Oncogene. 2004;23: 4297-4307.
26. Lutterbach B, Hou Y, Durst KL, Hiebert SW. The inv(16) encodes an acute myeloid leukemia 1 transcriptional corepressor. Proc Natl Acad Sci U S A. 1999;96:12822-12827.
27. Durst KL, Lutterbach B, KummalueT, Friedman AD, Hiebert SW. The inv(16) fusion protein associates with corepressors via a smooth muscle myosin heavy-chain domain. Mol Cell Biol. 2003; 23:607-619.
28. Bangsow C, Rubins N, Glusman G, et al. The RUNX3 gene-sequence, structure and regulated expression. Gene. 2001;279:221-232.
29. Spender LC, Whiteman HJ, Karstegl CE, Farrell PJ. Transcriptional cross-regulation of RUNX1 by RUNXS in human B cells. Oncogene. 2005;24: 1873-1881.
30. Drissi H, Luc Q, Shakoori R, et al. Transcriptional autoregulation of the bone related CBFA1/RUNX2 gene. J Cell Physiol. 2000;184:341-350.
31. Ng MH, Wong N, Tsang KS, Cheng SH, Chung YF, Lo KW. Recurrent chromosomal rearrangements involving breakpoints 3p21 and 19q13 in Chinese IgD multiple myeloma detected by G-banding and multicolor spectral karyotyping: a review of IgD karyotype literature. Hum Pathol. 2001;32:1016-1020.
32. Pallisgaard N, Hokland P, Riishoj DC, Pedersen B, Jorgensen P. Multiplex reverse transcriptionpolymerase chain reaction for simultaneous screening of 29 translocations and chromosomal aberrations in acute leukemia. Blood. 1998;92: 574-588.
33. Webb DK, Harrison G, Stevens RF, Gibson BG, Hann IM, Wheatley K; MRC Childhood Leukemia Working Party. Relationships between age at diagnosis, clinical features, and outcome of therapy in children treated in the Medical Research Gouncil AML 10 and 12 trials for acute myeloid leukemia. Blood. 2001;98:1714-1720.
34. Wheatley K, BurnettAK. Goldstone AH, et al. A simple, robust, validated and highly predictive index for the determination of risk-directed therapy in acute myeloid leukaemia derived from the MRC AML 10 trial. United Kingdom Medical Research Council's Adult and Childhood Leukaemia Working Parties. Br J Haematol. 1999;107: 69-79.
35. Gabert J, Beillard E, van der Velden VH, et al. Standardization and quality control studies of 'real-time" quantitative reverse transcriptase polymerase chain reaction of fusion gene transcripts for residual disease detection in leukemia-a Europe Against Cancer program. Leukemia. 2003;17:2318-2357.
36. Kiyoi H, Naoe T, Nakano Y, et al. Prognostic implication of FLT3 and N-RAS gene mutations in acute myeloid leukemia. Blood. 1999;93:3074-3080.
37. Yamamoto Y, Kiyoi H, Nakano Y, et al. Activating mutation of D835 within the activation loop of FLT3 in human hematologic malignancies. Blood. 2001;97:2434-2439.
38. Cheng CK, Yeung CM, Chow BK, Leung PC. Characterization of a new upstream GnRH receptor promoter in human ovarian granulosa-luteal cells. Mol Endocrinol. 2002;16:1552-1564.
39. Homma N, Tamura G, Honda T, et al. Spreading of methylation within RUNX3 CpG island in gastric cancer. Cancer Sci. 2006;97:51-56.
40. Cheng CK, Chow LW, Loo WT, Chan TK, Chan V. The cell cycle checkpoint gene Rad9 is a novel oncogene activated by 11 q 13 amplification and DNA methylation in breast cancer. Cancer Res. 2005;65:8646-8654.
41. 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. The Medical Research Council Adult and Children's Leukaemia Working Parties. Blood. 1998;92:2322-2333.
42. Lacayo NJ, Meshinchi S, Kinnunen P, et al. Gene expression profiles at diagnosis in de novo childhood AML patients identify FLT3 mutations with good clinical outcomes. Blood. 2004;104:2646-2654.
43. Liang DC, Shih LY, Hung IJ, et al. FLT3-TKD mutation in childhood acute myeloid leukemia. Leukemia. 2003;17:883-886.
44. Meshinchi S, AlonzoTA, Stirewalt DL, et al. Clinical implications of FLT3 mutations in pediatric AML. Blood. 2006;108:3654-3661.
45. Pabst T, Mueller BU, Harakawa N, et al. AML1-ETO downregulates the granulocytic differentiation factor C/EBPalpha in t(8;21) myeloid leukemia. Nat Med. 2001;7:444-451.
46. Bullinger L, Rucker FG, Kurz S, et al. Geneexpression profiling identifies distinct subclasses of core binding factor acute myeloid leukemia. Blood. 2007;110:1291-1300.
47. Marcucci G, Mrozek K, Ruppert AS, et al. Prognostic factors and outcome of core binding factor acute myeloid leukemia patients with t(8;21) differ from those of patients with inv(16): a Cancer and Leukemia Group B study. J Clin Oncol. 2005;23: 5705-5717.
48. Paschka P, Marcucci G, Ruppert AS, et al. Adverse prognostic significance of KIT mutations in adult acute myeloid leukemia with inv(16) and t(8;21): a Cancer and Leukemia Group B Study. J Clin Oncol. 2006;24:3904-3911.
49. Rethmeier A, Aggerholm A, Olesen LH, et al. Promoter hypermethylation of the retinoic acid receptor beta2 gene is frequent in acute myeloid leukaemia and associated with the presence of CBFbeta-MYH11 fusion transcripts. Br J Haematol. 2006;133:276-283.
50. Lasa A, Carnicer MJ, Aventin A, et al. MEIS 1 expression is downregulated through promoter hypermethylation in AML1-ETO acute myeloid leukemias. Leukemia. 2004;18:1231-1237.
51. Markus J, Garin MT Bies J, et al. Methylationindependent silencing of the tumor suppressor INK4b (p15) by CBFbeta-SMMHC in acute myelogenous leukemia with inv(16). Cancer Res. 2007;67:992-1000.
52. Wildonger J, Mann RS. The t(8;21) translocation converts AML1 into a constitutive transcriptional repressor. Development. 2005;132:2263-2272.
53. Dong M, Blobe GC. Role of transforming growth factor-beta in hematologic malignancies. Blood. 2006;107:4589-4596.
54. Imai Y, Kurokawa M, Izutsu K, et al. Mutations of the Smad4 gene in acute myelogeneous leukemia and theirfunctional implications in leukemogenesis. Oncogene. 2001;20:88-96.
55. Lin HK, Bergmann S, Pandolfi PP. Cytoplasmic PMLfunction in TGF-beta signalling. Nature. 2004;431:205-211.
56. Ito Y, Miyazono K. RUNX transcription factors as key targets of TGF-beta superfamily signaling. Curr Opin Genet Dev. 2003;13:43-47.
57. Steidl U, Rosenbauer F, Verhaak RG, et al. Essential role of Jun family transcription factors in PU. 1 knockdown-induced leukemic stem cells. Nat Genet. 2006;38:1269-1277.
58. Golub TR, Barker GF, Bohlander SK, et al. Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia. Proc Natl Acad Sci U S A. 1995;92:4917-4921.
59. Fenrick R, Amann JM, Lutterbach B, et al. Both TEL and AML-1 contribute repression domains to the t(12;21) fusion protein. Mol Cell Biol. 1999;19: 6566-6574.