Familial Mutations of the Transcription Factor RUNX1 (AML1, CBFA2) Predispose to Acute Myeloid Leukemia

References

• Goldgar, D.E., Easton, D.F., Cannon-Albright, L.A. and Skolnick, M.H. (1994) "Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands", Journal of the National Cancer Institute, 86, 1600–1608.
   Web of Science ®Google Scholar
• Wiemels, J.L., Cazzaniga, G., Daniotti, M., Eden, O.B., Addison, G.M., et al. (1999) "Prenatal origin of acute lymphoblastic leukaemia in children", Lancet, 354, 1499–1503.
   Google Scholar
• Horwitz, M. (1997) "The genetics of familial leukemia", Leukemia, 11, 1347 — 1359.
   PubMed Web of Science ®Google Scholar
• Rosenberg, P.S., Greene, M.H. and Alter, B.P. (2003) "Cancer incidence in persons with Fanconi anemia", Blood, 101, 822–826.
   Google Scholar
• Bellucci, S. (1997) "Megakaryocytes and inherited thrombocyto-penias", Baillieres Clinical Haematology, 10, 149 — 162.
   PubMed Web of Science ®Google Scholar
• Bennett, J.M., Catovsky, D., Daniel, M.T., Flandrin, G., Galton, D.A., Gralnick, H.R., et al. (1985) "Proposed revised criteria for the classification of acute myeloid leukemia. A report of the French-American-British Cooperative Group", Annals of Internal Medicine, 103, 620–625.
   PubMed Web of Science ®Google Scholar
• Huret, J. (1997) "t(8;21)(q22;q22)", Atlas of Genetics and Cytoge-netics in Oncology and Haematology, http://www.infobiogen.fr/ services/chromcancer/Anomalies/50821.html
   Google Scholar
• Miyoshi, H., Shimizu, K., Kozu, T., Maseki, N., Kaneko, Y. and Ohki, M. (1991) "t(8;21) breakpoints on chromosome 21 in acute myeloid leukemia are clustered within a limited region of a single gene, AML I", Proceedings of the National Academy of Sciences of the United States of America, 88, 10431–10434.
   PubMed Web of Science ®Google Scholar
• Erickson, P., Gao, J., Chang, K.S., Look, T., Whisenant, E., Raimondi, S., et al. (1992) "Identification of breakpoints in t(8;21) acute myelogenous leukemia and isolation of a fusion transcript, AMLI/ETO, with similarity to Drosophila segmentation gene, runt", Blood, 80, 1825–1831.
   PubMed Web of Science ®Google Scholar
• Perry, C., Eldor, A. and Soreq, H. (2002) "Run x 1/AML1 in leukemia: disrupted association with diverse protein partners", Leukemia Research, 26, 221 — 228.
   Google Scholar
• Golub, T.R., Barker, G.F., Bohlander, S.K., Hiebert, SM., Ward, D.C., Bray-Ward, P., et al. (1995) "Fusion of the TEL gene on 12pI3 to the AML 1 gene on 21q22 in acute lymphoblastic leukemia", Proceedings of the National Academy of Sciences of the United States of America, 92, 4917–4921.
   PubMed Web of Science ®Google Scholar
• Mitani, K., Ogawa, S., Tanaka, T., Miyoshi, H., Kurokawa, M., Mano, H., et al. (1994) "Generation of the AMLI-EVI-1 fusion gene in the t(3;21)(q26;q22) causes blastic crisis in chronic myelocytic leukemia", The EMBO Journal, 13, 504–510.
   PubMed Web of Science ®Google Scholar
• Nucifora, G., Begy, C.R., Kobayashi, H., Roulston, D., Claxton, D., Pedersen-Bjergaard, J., et al. (1994) "Consistent intergenic splicing and production of multiple transcripts between AML1 at 21q22 and unrelated genes at 3q26 in (3;21)(q26;q22) transloca-tions", Proceedings of the National Academy of Sciences of the United States of America, 91, 4004–4008.
   PubMed Web of Science ®Google Scholar
• Gamou, T., Kitamura, E., Hosoda, F., Shimizu, K., Shinohara, K., Hayashi, Y., et al. (1998) "The partner gene of AML1 in t(16;21) myeloid malignancies is a novel member of the MTG8(ETO) family", Blood, 91, 4028–4037.
   PubMed Web of Science ®Google Scholar
• Miyoshi, H., Ohira, M., Shimizu, K., Mitani, K., Hirai, H., Imai, T., et al. (1995) "Alternative splicing and genomic structure of the AML1 gene involved in acute myeloid leukemia", Nucleic Acids Research, 23, 2762–2769.
   PubMed Web of Science ®Google Scholar
• Levanon, D., Glusman, C., Bangsow, T., Ben-Asher, E., Male, D.A., Avidan, N., et al. (2001) "Architecture and anatomy of the genomic locus encoding the human leukemia-associated transcrip-tion factor RUNX1/AML1", Gene, 262, 23–33.
   Google Scholar
• Rebhan, M., Chalifa-Caspi, V., Prilusky, J. and Lancet, D. (1997) "GeneCard for RUNX1 [19 October 2002]". Weizmann Institute of Science, Bioinformatics Unit and Genome Center, Rehovot, Israel, http://www.rzpd.de/cgi-bin/cards/carddisp?RUNX1.
   Google Scholar
• Roulston, D., Espinosa, R., 3rd Nucifora, G., Larson, R.A., Le Beau, M.M. and Rowley, J.D. (1998) "CBFA2(AML1) transloca-tions with novel partner chromosomes in myeloid leukemias: association with prior therapy", Blood, 92, 2879–2885.
   Google Scholar
• Xiao, Z., Greaves, M.F., Buffler, P., Smith, MT., Segal, MR., Dicks, B.M., et al. (2001) "Molecular characterization of genomic AML1-ETO fusions in childhood leukemia", Leukemia, 15, 1906 — 1913.
   Web of Science ®Google Scholar
• Zhang, Y., Strissel, P., Strick, R., Chen, J., Nucifora, G., Le Beau, MM., et al. (2002) "Genomic DNA breakpoints in AML1/RUNX1 and ETO cluster with topoisomerase II DNA cleavage and DNase I hypersensitive sites in t(8;21) leukemia", Proceedings of the National Academy of Sciences of the United States of America, 99, 3070— 3075.
   Google Scholar
• Wiemels, J.L., Alexander, FE., Cazzaniga, G., Biondi, A., Mayer S.P. and Greaves, M. (2000) "Microclustering of TEL-AML1 translocation breakpoints in childhood acute lymphoblastic leuke-mia", Genes Chromosomes & Cancer, 29, 219–228.
   Web of Science ®Google Scholar
• Weiss, H.J., Chervenick, P.A., Zalusky, R. and Factor, A. (1969) "A familial defect in platelet function associated with impaired release of adenosine diphosphate", New England Journal of Medicine, 281, 1264–1270.
   Google Scholar
• Weiss, RI, Witte, L.D., Kaplan, K.L., Lages, RA., Chernoff, A., Nossel, H.L., etal. (1979) "Heterogeneity in storage pool deficiency: studies on granule-bound substances in 18 patients including variants deficient in alpha-granules, platelet factor 4, beta-throm-boglobulin, and platelet-derived growth factor", Blood, 54, 1296 — 1319.
   Google Scholar
• Lages, B., Shattil, S.J., Bainton, D.F. and Weiss, H.J. (1991) "Decreased content and surface expression of alpha-granule membrane protein GMP-140 in one of two types of platelet alpha delta storage pool deficiency", Journal of Clinical Investigation, 87, 919 —929.
   Google Scholar
• Dowton, S.B., Beardsley, D., Jamison, D., Blattner, S. and Li, F.P. (1985) "Studies of a familial platelet disorder", Blood, 65, 557 — 563.
   Google Scholar
• Ho, C.Y., Otterud, B., Legare, R.D., Varvil, T., Saxena, R., DeHart, D.B., et al. (1996) "Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human chromosome 21q22.1-22.2", Blood, 87, 5218 — 5224.
   Google Scholar
• Gerrard, J.M., Israels, ED., Bishop, A.J., Schroeder, ML., Beattie, L.L., McNicol, A., et al. (1991) "Inherited platelet-storage pool deficiency associated with a high incidence of acute myeloid leukemia", British Journal of Haematology, 79, 246–255.
   Google Scholar
• Arepally, G., Rebbeck, T.R., Song, W., Gilliland, G., Mans, J.M. and Poncz, M. (1998) "Evidence for genetic homogeneity in a familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML)", Blood, 92, 2600–2602.
   Google Scholar
• Legare, RD., Lu, D., Gallagher, M., Ho, C., Tan, X., Barker, G., et al. (1997) "CBFA2, frequently rearranged in leukemia, is not responsible for a familial leukemia syndrome", Leukemia, 11, 2111— 2119.
   PubMed Web of Science ®Google Scholar
• Song, W.J., Sullivan, M.G., Legare, RD., Hutchings, S., Tan, X., Kufrin, D., et al. (1999) "Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia", Nature Genetics, 23, 166 — 175.
   Google Scholar
• Buijs, A., Poddighe, P., van Wijk, R., van Solinge, W., Borst, E., Verdonck, L., et al. (2001) "A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignantices", Blood, 98, 2856–2858.
   PubMed Web of Science ®Google Scholar
• Michaud, J., Wu, F., Osato, M., Conies, G.M., Yanagida, M., Asou, N., et al. (2002) "In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis", Blood, 99, 1364— 1372.
   Google Scholar
• Walker, L.C., Stevens, J., Campbell, H., Corbett, R., Spearing, R., Heaton, D., et al. (2002) "A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia", British Journal of Haematology, 117, 878 — 881.
   Google Scholar
• Luddy, RE., Chamption, L.A. and Schwartz, A.D. (1978) "A fatal myeloproliferative syndrome in a family with thrombocytopenia and platelet dysfunction", Cancer, 41, 1959–1963.
   Web of Science ®Google Scholar
• Atlas of Genetics, and Cytogenetics in Oncology and Haematology, http://www.infobiogen.fr/services/chromcancer
   Google Scholar
• Slovak, ML., Kopecky, K.J., Cassileth, PA., Harrington, D.H., Theil, KS., Mohamed, A., et al. (2000) "Karyotypic analysis predicts outcome of preremission and postremission therapy in adult acute myeloid leukemia: a Southwest Oncology Group/Eastern Cooperative Oncology Group Study", Blood, 96, 4075 —4083.
   Google Scholar
• Osato, M., Asou, N., Abdalla, E., Hoshino, K., Yamasaki, H., Okubo, T., et al. (1999) "Biallelic and heterozygous point mutations in the runt domain of the AML1/PEBP2a1phaB gene associated with myeloblastic leukemias", Blood, 93, 1817 — 1824.
   Google Scholar
• Roumier, C., Fenawc, P., Lafage, M., Imbert, M., Eclache, V. and Preudhomme, C. (2003) "New mechanisms of AML1 gene alteration in hematological malignancies", Leukemia, 17, 9— 16.
   Google Scholar
• Imai, Y., Kurokawa, M., Izutsu, K., Hangaishi, A., Takeuchi, K., Maki, K., et al. (2000) "Mutations of the AML1 gene in myelodysplastic syndrome and their functional implications in leukemogenesis", Blood, 96, 3154 — 3160.
   Google Scholar
• Preudhomme, C., Warot-Loze, D., Roumier, C., Grardel-Duflos, N., Garand, R., Lai, J.L., et al. (2000) "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, 96, 2862–2869.
   PubMed Web of Science ®Google Scholar
• Steer, E.J., Goldman, J.M. and Cross, N.C. (2001) "Mutations of the transcription factor AML1/CBFA2 are uncommon in blastic transformation of chronic myeloid leukaemia", Leukemia, 15,476–477.
   Google Scholar
• Harada, H., Harada, Y., Tanaka, H., Kimura, A. and Inaba, T. (2003) "Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplasitc syndrome/ acute myeloid leukemia", Blood, 101, 673–680.
   PubMed Web of Science ®Google Scholar
• Yeoh, A.E.J., Williams, K., Behm, F., Lenny, N., Shih, L.Y., Harada, H., et al. (2000) "Somatic mutations of the AML-1 gene are frequent in acute myeloid leukemia with FAM MO morphology (abstract)", Blood, 96, 389.
   Google Scholar
• Langabeer, SE., Gale, R.E., Rollinson, S.J., Morgan, G.J. and Linch, D.C. (2002) "Mutations of the AML1 gene in acute myeloid leukemia of FAB types MO and M7", Genes Chromoses & Cancer, 34, 24 — 32.
   Google Scholar
• Roumier, C., Eclache, V., Imbert, M., Davi, F., MacIntyre, E., Garand, R., et al. (2003) "MO AML, clinical and biologic features of the disease, including AML1 gene mutations: a report of 59 cases by the Groupe Francais d'Hematologie Cellulaire (GFHC) and the Groupe Francais de Cytogenetique Hematologique (GFCH)", Blood, 101, 1277 — 1283.
   Google Scholar
• Leroy, H., Roumier, C., Grardel-Duflos, N., Macintyre, E., Lepelley, P., Fenaux, P. et al. (2002) "Unlike AML1, CBFbeta gene is not deregulated by point mutations in acute myeloid leukemia and in myelodysplastic syndromes", Blood, 99, 3848–3850.
   PubMed Web of Science ®Google Scholar
• Ferrari, T., Weber, B., Pils, S., Harbott, J. and Borkhardt, A. (2001) "Absence of point mutations within the AML-1 gene in patients with MDS/AML and loss of chromosome 5q or 7", Annals of Hematology, 80, 72–73.
   PubMed Web of Science ®Google Scholar
• Meyers, S., Downing J.R. and Hiebert, S.W. (1993) "Identification of AML-1 and the (8;21) translocation protein (AML-1/ETO) as sequence-specific DNA-binding proteins: the runt homology domain is required for DNA binding and protein-protein interactions", Molecular and Cellular Biology, 13, 6336–6345.
   PubMed Web of Science ®Google Scholar
• Ogawa, E., Inuzuka, M., Maruyama, M., Satake, M., Naito-Fujimoto, M., Ito, Y., et al. (1993) "Molecular cloning and characterization of PEBP2 beta, the heterodimeric partner of a novel Drosophila runt-related DNA binding protein PEBP2 alpha", Virology, 194, 314 — 331.
   Google Scholar
• Speck, N.A. and Stacy, T. (1995) A new transcription factor family associated with human leukemias. New York: Begell House, Inc.
   Google Scholar
• Okuda, T., van Deursen, J., Hiebert, S.W., Grosveld, G. and Downing, J.R. (1996) "AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis", Cell, 84, 321 — 330.
   Google Scholar
• Wang, Q., Stacey, T., Miller, JD., Lewis, A.F., Gu, T.L., Huang, X., et al. (1996) "The CBFbeta subunit is essential for CBFalpha2 (AML1) function in vivo", Cell, 87, 697–708.
   Google Scholar
• Kalev-Zylinska, ML., Horsfield, JA., Flores, M.V.C., Post-lethwait, J.H., Vitas, MR., Baas, AM., et al. (2002) "Rural is required for zebrafish blood and vessel development and expression of a human RUNXI-CBF2T1 transgene advances a model for studies of leukemogenesis", Development, 129, 2015–2030.
   PubMed Web of Science ®Google Scholar
• Simeone, A., Daga, A. and Calabi, F. (1995) "Expression of runt in the mouse embryo", Developmental Dynamics, 203, 61–70.
   PubMed Web of Science ®Google Scholar
• Duffy, J.B. and Gergen, J.P. (1994) "Sex, segments, and the central nervous system: common genetic mechanisms of cell fate determina-tion", Advances in Genetics, 31, 1 —28.
   Google Scholar
• North, T., Gu, T.L., Stacy, T., Wang, Q., Howard, L., Binder, M., et al. (1999) "Cbfa2 is required for the formation of intra-aortic hematopoietic clusters", Development, 126, 2563–2575.
   PubMed Web of Science ®Google Scholar
• Wang, Q., Stacy, T., Binder, M., Marin-Padilla, M., Sharpe, A.H. and Speck, N.A. (1996) "Disruption of the Cbfa2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis", Proceedings of the National Academy of Sciences of the United States of America, 93, 3444–3449.
   PubMed Web of Science ®Google Scholar
• Cai, Z., de Bruijn, M., Ma, X., Dortland, B., Luteijn, T., Downing, R.J., et al. (2000) "Haploinsufficiency of AML1 affects the temporal and spatial generation of hematopoietic stem cells in the mouse embryo", Immunity, 13, 423–431.
   PubMed Web of Science ®Google Scholar
• Sasaki, K., Yagi, H., Bronson, R.T., Tominagag, K., Matsunashi, T., Deguchi, K., et al. (1996) "Absence of fetal liver hematopoiesis in mice deficient in transcriptional coactivator core binding factor beta", Proceedings of the National Academy of Sciences of the United States of America, 93, 12359–12363.
   PubMed Web of Science ®Google Scholar
• Yergeau, D.A., Hetherington, CJ., Wang, Q., Zhang, P., Sharpe, A.H., Binder, M., et al. (1997) "Embryonic lethality and impairment of haematopoiesis in mice heterozygous for an AML1-ETO fusion gene", Nature Genetics, 15, 303–306.
   PubMed Web of Science ®Google Scholar
• Okuda, T., Cai, Z., Yang, S., Lenny, N., Lyu, CJ., van Deursen, J.M., et al. (1998) "Expression of a knocked-in AML1-ETO leukemia gene inhibits the establishment of normal definitive hematopoiesis and directly generates dysplastic hematopoietic progenitors", Blood, 91, 3134 — 3143.
   Google Scholar
• Castilla, L.H., Wijmenta, C., Wang, Q., Stacy, T., Speck, NA., Eckhaus, M., et al. (1996) "Failure of embryonic hematopoiesis and lethal hemorrhages in mouse embryos heterozygous for a knocked-in leukemia gene CBFB-MYH11", Cell, 87, 687–696.
   Google Scholar
• Higuchi, M., O'Brien, D., Kumaravelu, P., Lenny, N., Yeoh, E.J. and Downing, J.R. (2002) "Expression of a conditional AML1-ETO oncogene bypasses embryonic lethality and establishes a murine model of human t(8;21) acute myeloid leukemia", Cancer Cell, 1, 63–74.
   PubMed Web of Science ®Google Scholar
• Castilla, L.H., Garrett, L., Adya, N., Orlic, D., Dutra, A., Anderson, S., et al. (1999) "The fusion gene Cbfb-MYH11 blocks myeloid differentiation and predisposes mice to acute myelomono-cytic leukaemia", Nature Genetics, 23, 144–146.
   PubMed Web of Science ®Google Scholar
• Huant, G., Shigesada, K., Ito, K., Wee, Hi., Yokomizo, T. and Ito, Y. (2001) "Dimerization with PEBP2beta protects RUNXI/AMLI from ubiquitin-proteasome-mediated degradation", The EMBO Journal, 20, 723–733.
   PubMed Web of Science ®Google Scholar
• Nagata, T., Gupta, V., Sorce, D., Kim, WY., Sali, A., Chait, B.T., et al. (1999) "Immunoglobulin motif DNA recognition and heterodimerization of the PEBP2/CBF Runt domain", Nature Structural Biology, 6, 615–619.
   PubMedGoogle Scholar
• Tang, Y.Y., Shi, J., Zhang, L., Davis, A., Bravo, J., Warren, A.J., et al. (2000) "Energetic and functional contribution of residues in the core binding factor beta (CBFbeta) subunit to heterodimerization with CBFalpha", Journal of Biological Chemistry, 275, 39579 — 39588.
   Google Scholar
• Warren, A.J., Bravo, J., Williams, R.L. and Rabbitts, T.H. (2000) "Structural basis for the heterodimeric interaction between the acute leukaemia-associated transcription factors AML1 and CBF beta", The EMBO Journal, 19, 3004–3015.
   PubMed Web of Science ®Google Scholar
• Tahirov, T.H., Inoue-Bungo, T., Morii, H., Fujikawa, A., Sasaki, M., Kimura, K., et al. (2001) "Structural analyses of DNA recognition by the AMLI/Runx-1 Runt domain and its allosteric control by CBF beta", Cell, 104, 755–767.
   Google Scholar
• Yoshida, T., Kanegane, H., Osato, M., Yanagida, M., Miyawaki, T., Ito, Y., et al. (2002) "Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations", American Journal of Human Genetics, 71, 724–738.
   PubMed Web of Science ®Google Scholar
• Bravo, J., Li, Z., Speck, N.A. and Warren, A.J. (2001) "The leukemia-associated AML1 (Runx1)— CBF beta complex functions as a DNA-induced molecular clamp", Nature Structural Biology, 8, 371— 378.
   Google Scholar
• Nagata, T. and Werner, M.H. (2001) "Functional mutagenesis of AMLI/RUNXI and PEBP2 beta/CBF beta define distinct, non-overlapping sites for DNA recognition and heterodimerization by the Runt domain", Journal of Molecular Biology, 308, 191–203.
   PubMed Web of Science ®Google Scholar
• Kanno, T., Kanno, Y., Chen, L.F., Ogawa, E., Kim, W.Y. and Ito, Y. (1998) "Intrinsic transcriptional activation-inhibition domains of the polyomavirus enhancer binding protein 2/core binding factor alpha subunit revealed in the presence of the beta subunit", Molecular and Cellular Biology, 18, 2444–2454.
   PubMed Web of Science ®Google Scholar
• Olopade, O.I., Roulston, D., Baker, T., Narvid, S., Le Beau, MM., Freireich, E.J., et al. (1996) "Familial myeloid leukemia associated with loss of the long arm of chromosome 5", Leukemia, 10, 669 — 674.
   Google Scholar
• Horwitz, M., Benson, K.F., Li, F.Q., Wolff, J., Leppert, M.F., Hobson, L., et al. (1997) "Genetic heterogeneity in familial acute myelogenous leukemia: evidence for a second locus at chromosome 16q21-23.2", American Journal of Human Genetics, 61, 873–881.
   PubMed Web of Science ®Google Scholar
• Cook, W.D. and McCaw, B.J. (2000) "Accommodating haploin-sufficient tumor suppressor genes in Knudson's model", Oncogene, 19, 3434 — 3438.
   Google Scholar
• Speck, NA. and Gailliland, D.G. (2002) "Core-binding factors in haematopoiesis and leukaemia", Nature Reviews Cancer, 2, 502 — 513.
   PubMed Web of Science ®Google Scholar