New mechanisms of AML1 gene alteration in hematological malignancies

Leukemia

Volumn 17, Issue 1, 2003, Pages 9-16

  Roumier, C ^a,b   Fenaux, P ^a,b   Lafage, M ^c   Imbert, M ^d   Eclache, V ^e   Preudhomme, C ^a,b  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b Institut de Recherche sur le Cancer de Lille   (France)

^c INSTITUT PAOLI CALMETTES   (France)

^d HENRI MONDOR HOSPITAL   (France)

^e AVICENNE HOSPITAL   (France)

Author keywords

AML1; Amplification; Mutation; Undifferentiated acute myeloid leukemia

Indexed keywords

AMINO ACID; CORE BINDING FACTOR; DNA; HYBRID PROTEIN; ONCOPROTEIN; TRANSCRIPTION FACTOR;

ACUTE GRANULOCYTIC LEUKEMIA; ACUTE LYMPHOBLASTIC LEUKEMIA; ADOLESCENT; ADULT; AGED; BETA CHAIN; BONE MARROW CELL; CANCER CLASSIFICATION; CELL DIFFERENTIATION; CELL LINEAGE; CHILD; CHILDHOOD LEUKEMIA; CHROMOSOME 21Q; CHROMOSOME BAND; CONTROLLED STUDY; DIMERIZATION; DNA BINDING; GENE AMPLIFICATION; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENE LOCATION; GENE MUTATION; GENE TRANSLOCATION; GENETIC CODE; GENETIC CONSERVATION; GENETIC REGULATION; HEMATOLOGIC MALIGNANCY; HEMATOPOIESIS; HEMATOPOIETIC CELL; HUMAN; HUMAN CELL; LEUKEMOGENESIS; MAJOR CLINICAL STUDY; MYELODYSPLASTIC SYNDROME; MYELOPROLIFERATIVE DISORDER; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; REVIEW;

EID: 0037265726     PISSN: 08876924     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.leu.2402766     Document Type: Review

References (41)

1. Miyoshi H, Shimizu K, Kozu T, Maseki N, Kaneko Y, Ohki M. t(8;21) breakpoints on chromosome 21 in acute myeloid leukemia are clustered within a limited region of a single gene, AML1. Proc Natl Acad Sci USA 1991; 88: 10431-1034.
2. Levanon D, Negreanu V, Bernstein Y, Bar-Am I, Avivi L, Groner Y. AML1, AML2, and AML3, the human members of the runt domain gene-family: cDNA structure, expression, and chromosomal localization. Genomics 1994; 23: 425-432.
3. Speck NA, Stacy T, Wang Q, North T, Gu TL, Miller J, Binder M, Marin-Padilla M. Core-binding factor: a central player in hematopoiesis and leukemia. Cancer Res 1999; 59: 1789s-1793s.
4. Ogawa E, Maruyama M, Kagoshima H, Inuzuka M, Lu J, Satake M, Shigesada K, Ito Y. PEBP2/PEA2 represents a family of transcription factors homologous to the products of the Drosophila runt gene and the human AML1 gene. Proc Natl Acad Sci USA 1993; 90: 6859-6863.
5. Downing JR. AML1/CBFbeta transcription complex: its role in normal hematopoiesis and leukemia. Leukemia 2001; 15: 664-665.
6. Wang Q, Stacy T, Miller JD, Lewis AF, Gu TL, Huang X, Bushweller JH, Bories JC, Alt FW, Ryan G, Liu PP, Wynshaw-Boris A, Binder M, Marin-Padilla M, Sharpe AH, Speck NA. The CBFbeta subunit is essential for CBFalpha2 (AML1) function in vivo. Cell 1996; 87: 697-708.
7. Tanaka T, Tanaka K, Ogawa S, Kurokawa M, Mitani K, Nishida J, Shibata Y, Yazaki Y, Hirai H. An acute myeloid leukemia gene, AML1, regulates hemopoietic myeloid cell differentiation and transcriptional activation antagonistically by two alternative spliced forms. EMBO J 1995; 14: 341-350.
8. Lutterbach B, Hiebert SW. Role of the transcription factor AML-1 in acute leukemia and hematopoietic differentiation. Gene 2000; 245: 223-235.
9. Rhoades KL, Hetherington CJ, Rowley JD, Hiebert SW, Nucifora G, Tenen DG, Zhang DE. Synergistic up-regulation 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.
10. Uchida H, Zhang J, Nimer SD. AML1A and AML1B can transactivate the human IL-3 promoter. J Immunol 1997; 158: 2251-2258.
11. Wang Q, Stacy T, Binder M, Marin-Padilla M, Sharpe AH, Speck NA. Disruption of the Cbfa2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hemapoiesis. Proc Natl Acad Sci USA 1996; 93: 3444-3449.
12. Sasaki K, Yagi H, Bronson RT, Tominaga K, Matsunashi T, Deguchi K, Tani Y, Kishimoto T, Komori T. Absence of fetal liver hematopoiesis in mice deficient in transcriptional coactivator core binding factor beta. Proc Natl Acad Sci USA 1996; 93: 12359-12363.
13. 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.
14. Nucifora G, Rowley JD. AML1 and the 8;21 and 3;21 translocations in acute and chronic myeloid leukemia. Blood 1995; 86: 1-14.
15. Romana SP, Poirel H, Leconiat M, Flexor MA, Mauchauffe M, Jonveaux P, Macintyre EA, Berger R, Bernard OA. High frequency of t(12;21) in childhood B-lineage acute lymphoblastic leukemia. Blood 1995; 86: 4263-4269.
16. Okuda T, Takeda K, Fujita Y, Nishimura M, Yagyu S, Yoshida M, Akira S, Downing JR, Abe T. Biological characteristics of the leukemia-associated transcriptional factor AML1 disclosed by hematopoietic rescue of AML1-deficient embryonic stem cells by using a knock-in strategy. Mol Cell Biol 2000; 20: 319-328.
17. Westendorf JJ, Yamamoto CM, Lenny N, Downing JR, Selsted ME, Hiebert SW. The t(8;21) fusion product, AML-1-ETO, associates with C/EBP-alpha, inhibits C/EBP-alpha-dependent transcription, and blocks granulocytic differentiation. Mol Cell Biol 1998;18: 322-333.
18. Tanaka K, Tanaka T, Kurokawa M, Imai Y, Ogawa S, Mitani K, Yazaki Y, Hirai H. The AML1/ETO(MTG8) and AML1/Evi-1 leukemia-associated chimeric oncoproteins accumulate PEBP2beta(CBFbeta) in the nucleus more efficiently than wild-type AML1. Blood 1998; 91: 1688-1699.
19. Osato M, Asou N, Abdalla E, Hoshino K, Yamasaki H, Okubo T, Suzushima H, Takatsuki K, Kanno T, Shigesada K, Ito Y. Biallelic and heterozygous point mutations in the runt domain of the AML1/PEBP2alphaB gene associated with myeloblastic leukemias. Blood 1999; 93: 1817-1824.
20. Preudhomme C, Warot-Loze D, Roumier C, Grardel-Duflos N, Garand R, Lai JL, Dastugue N, Macintyre E, Denis C, Bauters F, Kerckaert JP, Cosson A, Fenaux P. High incidence of biallelic point mutations in the Runt domain of the AML1/PEBP2 alpha B gene in Mo acute myeloid leukemia and in myeloid malignancies with acquired trisomy 21. Blood 2000; 96: 2862-2869.
21. Imai Y, Kurokawa M, Izutsu K, Hangaishi A, Takeuchi k, Maki K, Ogawa S, Chiba S, Mitani K, Hirai H. Mutations of the AML1 gene in myelodysplastic syndrome and their functional implications in leukemogenesis. Blood 2000; 96: 3154-3160.
22. Steer EJ, Goldman JM, Cross NC. Mutations of the transcription factor AML1/CBFA2 are uncommon in blastic transformation of chronic myeloid leukaemia. Leukemia 2001; 15: 476-477.
23. Langabeer SE, Gale RE, Rollinson SJ, Morgan GJ, Linch DC. Mutations of the AML1 gene in acute myeloid leukaemia of FAB types M0 and M7. Genes Chromosomes Cancer 2002; 34: 24-32.
24. Yeoh A, Williams K, Behm F, Lenny N, Shih L, Harada Y, Gilliland G, Downing J. Somatic mutations of the AML1 gene are frequent in acute myeloid leukemia with FAB M0 morphology. Blood 2000; 96: (Abstr. 389).
25. Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, Ratajczak J, Resende IC, Haworth C, Hock R, Loh M, Felix C, Roy DC, Busque L, Kurnit D, Willman C, Gewirtz AM, Speck NA, Bushweller JH, Li FP, Gardiner K, Poncz M, Maris JM, Gilliland DG. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999; 23: 166-175.
26. Niini T, Kanerva J, Vettenranta K, Saarinen-Pihkala UM, Knuutila S. AML1 gene amplification: a novel finding in childhood acute lymphoblastic leukemia. Haematologica 2000; 85: 362-366.
27. Dal Cin P, Atkins L, Ford C, Ariyanayagam S, Armstrong SA, George R, Cleary A, Morton CC. Amplification of AML1 in childhood acute lymphoblastic leukemias. Genes Chromosomes Cancer 2001; 30: 407-409.
28. Streubel B, Valent P, Lechner K, Fonatsch C. Amplification of the AML1(CBFA2) gene on ring chromosomes in a patient with acute myeloid leukemia and a constitutional ring chromosome 21. Cancer Genet Cytogenet 2001; 124: 42-46.
29. Kakazu N, Taniwaki M, Horiike S, Nishida K, Tatekawa T, Nagai M, Takahashi T, Akaogi T, Inazawa J, Ohki M, Abe T. Combined spectral karyotyping and DAPI banding analysis of chromosome abnormalities in myelodysplastic syndrome. Genes Chromosomes Cancer 1999; 26: 336-345.
30. Mathew S, Rao PH, Dalton J, Downing JR, Raimondi SC. Multicolor spectral karyotyping identifies novel translocations in childhood acute lymphoblastic leukemia. Leukemia 2001; 15: 468-472.
31. Busson-Le Coniat M, Khac FN, Daniel MT, Bernard OA, Berger R. Chromosome 21 abnormalities with AML1 amplification in acute lymphoblastic leukemia. Genes Chromosomes Cancer 2001; 32: 244-249.
32. Ma SK, Wan TS, Cheuk AT, Fung LF, Chan GC, Chan SY, Ha SY, Chan LC. Characterization of additional genetic events in childhood acute lymphoblastic leukemia with TEL/AML1 gene fusion: a molecular cytogenetics study. Leukemia 2001; 15: 1442-1447.
33. Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR, Sultan C. Proposals for the classification of the acute leukaemias. French-American-British (FAB) co-operative group. Br J Haematol 1976; 33: 451-458.
34. Penther D, Preudhomme C, Talmant P, Roumier C, Godon A, Méchinaud F, Milpied N, Bataille R, Avet-Loiseau H. Amplification of aml1 gene is present in chilhood acute lymphoblastic leukemia but not in adult, and is not associated with aml1 gene mutation. Leukemia 2002; 16: 1131-1134.
35. Bravo J, Li Z, Speck NA, Warren AJ. The leukemia-associated AML1 (Runx1) - CBF beta complex functions as a DNA-induced molecular clamp. Nat Struct Biol 2001; 8: 371-378.
36. Imai Y, Kurokawa M, Tanaka K, Friedman AD, Ogawa S, Mitani K, Yazaki Y, Hirai H. TLE, the human homolog of groucho, interacts with AML1 and acts as a repressor of AML1-induced transactivation. Biochem Biophys Res Commun 1998; 252: 582-589.
37. Mukouyama Y, Chiba N, Hara T, Okada H, Ito Y, Kanamaru R, Miyajima A, Satake M, Watanabe T. The AML1 transcription factor functions to develop and maintain hematogenic precursor cells in the embryonic aorta-gonad-mesonephros region. Dev Biol 2000; 220: 27-36.
38. Lutterbach B, Westendorf JJ, Linggi B, Isaac S, Seto E, Hiebert SW. A mechanism of repression by acute myeloid leukemia-1, the target of multiple chromosomal translocations in acute leukemia. J Biol Chem 2000; 275: 651-656.
39. Bruckert P, Kappler R, Scherthan H, Link H, Hagmann F, Zankl H. Double minutes and c-MYC amplification in acute myelogenous leukemia: Are they prognostic factors? Cancer Genet Cytogenet 2000; 120: 73-79.
40. Andersen MK, Christiansen DH, Kirchhoff M, Pedersen-Bjergaard J. Duplication or amplification of chromosome band 11q23, including the unrearranged MLL gene, is a recurrent abnormality in therapy-related MDS and AML, and is closely related to mutation of the TP53 gene and to previous therapy with alkylating agents. Genes Chromosomes Cancer 2001; 31: 33-41.
41. Kurokawa M, Tanaka T, Tanaka K, Ogawa S, Mitani K, Yazaki Y, Hirai H. Overexpression of the AML1 proto-oncoprotein in NIH3T3 cells leads to neoplastic transformation depending on the DNA-binding and transactivational potencies. Oncogene 1996; 12: 883-892.