Gatekeeper function of the RUNX1 transcription factor in acute leukemia

Blood Cells, Molecules, and Diseases - Tập 40 - Trang 211-218 - 2008
Birte Niebuhr1, Meike Fischer1, Maike Täger1, Jörg Cammenga2, Carol Stocking1
1Heinrich-Pette-Institut, Martinistr. 52, D-20251 Hamburg, Germany
2Lund Strategic Center for Stem Cell Biology and Cell Therapy, Lund University SE-221 Lund, Sweden

Tài liệu tham khảo

Vogelstein, 2004, Cancer genes and the pathways they control, Nat. Med., 10, 789, 10.1038/nm1087 Kinzler, 1997, Cancer-susceptibility genes. Gatekeepers and caretakers, Nature, 386, 761, 10.1038/386761a0 Cammenga, 2005, Gatekeeper pathways and cellular background in the pathogenesis and therapy of AML, Leukemia, 19, 1719, 10.1038/sj.leu.2403894 Rosenbauer, 2005, Effect of transcription-factor concentrations on leukemic stem cells, Blood, 106, 1519, 10.1182/blood-2005-02-0717 Tenen, 2003, Disruption of differentiation in human cancer: AML shows the way, Nat. Rev., Cancer, 3, 89, 10.1038/nrc989 Hamburger, 1977, Primary bioassay of human tumor stem cells, Science, 197, 461, 10.1126/science.560061 Huntly, 2005, Leukaemia stem cells and the evolution of cancer-stem-cell research, Nat. Rev., Cancer, 5, 311, 10.1038/nrc1592 Al-Hajj, 2003, Prospective identification of tumorigenic breast cancer cells, Proc. Natl. Acad. Sci. U. S. A., 100, 3983, 10.1073/pnas.0530291100 Hemmati, 2003, Cancerous stem cells aris from pediatric brain tumors, Proc. Natl. Acad. Sci. U. S. A., 100, 15178, 10.1073/pnas.2036535100 Singh, 2004, Identification of human brain tumour initiating cells, Nature, 432, 396, 10.1038/nature03128 Bonnet, 1997, Human acute myeloid leukemia is organized as a hierarchy that originates from a primitive hematopoietic cell, Nat. Med., 3, 730, 10.1038/nm0797-730 Warner, 2004, Concepts of human leukemic development, Oncogene, 23, 7164, 10.1038/sj.onc.1207933 Somervaille, 2006, Identification and characterization of leukemia stem cells in murine MLL-AF9 acute myeloid leukemia, Cancer Cell, 10, 257, 10.1016/j.ccr.2006.08.020 Vexcovi, 2006, Brain tumor stem cells, Nat. Rev., Cancer, 6, 425, 10.1038/nrc1889 Jaiswal, 2003, Expression of BCR/ABL and BCL-2 in myeloid progenitors leads to myeloid leukemias, Proc. Natl. Acad. Sci. U. S. A., 100, 100002, 10.1073/pnas.1633833100 Li, 2007, Beyond tumorigenesis: cancer stem cells in metastasis, Cell Res., 17, 3, 10.1038/sj.cr.7310118 Ogawa, 1993, 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. U. S. A., 90, 6859, 10.1073/pnas.90.14.6859 Wang, 1993, Cloning and characterization of subunits of the T-cell receptor and murine leukemia virus enhancer core-binding factor, Mol. Cell. Biol., 13, 3324, 10.1128/MCB.13.6.3324 Wang, 1996, The CBFbeta subunit is essential for CBFalpha2 (AML1) function in vivo, Cell, 87, 697, 10.1016/S0092-8674(00)81389-6 Miller, 2002, The core-binding factor beta subunit is required for bone formation and hematopoietic maturation, Nat. Genet., 32, 645, 10.1038/ng1049 Licht, 2001, AML1 and the AML1-ETO fusion protein in the pathogenesis of t(8;21) AML, Oncogene., 20, 5660, 10.1038/sj.onc.1204593 Durst, 2004, Role of RUNX family members in transcriptional repression and gene silencing, Oncogene, 23, 4220, 10.1038/sj.onc.1207122 Growney, 2005, Loss of Runx1 perturbs adult hematopoiesis and is associated with a myeloproliferative phenotype, Blood, 106, 494, 10.1182/blood-2004-08-3280 Putz, 2005, AML1 deletion in adult mice causes splenomegaly and lymphomas, Oncogene, 25, 929, 10.1038/sj.onc.1209136 Ichikawa, 2004, AML-1 is required for megakaryocytic maturation and lymphocytic differentiation, but not for maintenance of hematopoietic stem cell in adult hematopoiesis, Nat. Med., 10, 299, 10.1038/nm997 Sun, 2004, Haploinsufficiency of AML1 results in a decrease in the number of LTR-HSCs while simultaneously inducing an increase in more mature progenitors, Blood, 104, 3565, 10.1182/blood-2003-12-4349 Blyth, 2005, The Runx genes: gain or loss of function in cancer, Nat. Rev., Cancer, 5, 376, 10.1038/nrc1607 Speck, 2002, Core-binding factors in haematopoiesis and leukaemia, Nat. Rev., Cancer, 2, 502, 10.1038/nrc840 Hiebert, 2001, Role of co-repressors in transcriptional repression mediated by the t(8;21), t(16;21), t(12;21), and inv(16) fusion proteins, Curr. Opin. Hematol., 8, 197, 10.1097/00062752-200107000-00003 Peterson, 2004, The 8;21 translocation in leukemogenesis, Oncogene, 23, 4255, 10.1038/sj.onc.1207727 Zelent, 2004, Role of the TEL-AML1 fusion gene in the molecular pathogenesis of childhood acute lymphoblastic leukaemia, Oncogene, 23, 4275, 10.1038/sj.onc.1207672 Osato, 2004, Point mutations in the RUNX1/AML1 gene: another actor in RUNX1 leukemia, Oncogene, 23, 4284, 10.1038/sj.onc.1207779 Roumier, 2003, New mechanisms of AML1 gene alteration in hematological malignancies, Leukemia, 17, 9, 10.1038/sj.leu.2402766 Ford, 1998, Fetal origins of the TEL-AML1 fusion gene in identical twins with leukemia, Proc. Natl. Acad. Sci. U. S. A., 95, 4584, 10.1073/pnas.95.8.4584 Wiemels, 1999, Prenatal origin of acute lymphoblastic leukaemia in children, Lancet, 354, 1499, 10.1016/S0140-6736(99)09403-9 Song, 1999, Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukemia, Nat. Genet., 23, 166, 10.1038/13793 Mori, 2002, Chromosome translocations and covert leukemic clones are generated during normal fetal development, Proc. Natl. Acad. Sci. U. S. A., 99, 8242, 10.1073/pnas.112218799 McHale, 2003, Prenatal origin of childhood acute myeloid leukemias harboring chromosomal rearrangements t(15;17) and inv(16), Blood, 101, 4640, 10.1182/blood-2003-01-0313 de Guzman, 2002, Hematopoietic stem cell expansion and distinct myeloid developmental abnormalities in a murine model of the AML1-ETO translocation, Mol. Cell. Biol., 22, 5506, 10.1128/MCB.22.15.5506-5517.2002 Schwieger, 2002, AML1-ETO inhibits maturation of multiple lymphohematopoietic lineages in induces myeloblast transformation in synergy with ICSBP deficiency, J. Exp. Med., 196, 1227, 10.1084/jem.20020824 Mulloy, 2003, Maintaining the self-renewal and differentiation potential of human CD34+ hematopoietic cells using a single genetic element, Blood, 102, 4369, 10.1182/blood-2003-05-1762 Basecke, 2005, AML1/ETO promotes the maintenance of early hematopoietic progenitors in NOD/SCID mice but does not abrogate their lineage specific differentiation, Leuk. Lymphoma, 46, 265, 10.1080/10428190400010767 Castilla, 1999, The fusion gene Cbfb-MYH11 blocks myeloid differentiation and predisposes mice to acute myelomonocytic leukaemia, Nat. Genet., 23, 144, 10.1038/13776 Okuda, 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, 10.1182/blood.V91.9.3134 Higuchi, 2000, Expression of AML1-ETO immortalizes myleloid progenitors and cooperates with secondary mutations to induce granulocytic sarcoma / acute myeloid leukemia, Blood, 1, 63 Kuo, 2006, Cbfβ-SMMHC induces distinct abnormal myeloid progenitors able to develop acute myeloid leukemia, Cancer Cell, 9, 57, 10.1016/j.ccr.2005.12.014 Higuchi, 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, 10.1016/S1535-6108(02)00016-8 Tonks, 2003, The AML1-ETO fusion gene promotes extensive self-renewal of human primary erythroid cells, Blood, 101, 624, 10.1182/blood-2002-06-1732 Wunderlich, 2006, Human CD34+ cells expressing the inv(16) fusion protein exhibit a myelomonocytic phenotype with greatly enhanced proliferative ability, Blood, 108, 1690, 10.1182/blood-2005-12-012773 Shigesada, 2004, Mechanism of leukemogenesis by the inv(16) chimeric gene CBFB/PEBP2B-MHY11, Oncogene, 23, 4297, 10.1038/sj.onc.1207748 Cammenga, 2007, RUNX1 DNA-binding mutants, associated with minimally differentiated acute myelogenous leukemia, disrupt myeloid differentiation, Cancer Res., 67, 537, 10.1158/0008-5472.CAN-06-1903 Mulloy, 2005, AML1-ETO fusion protein up-regulates TRKA mRNA expression in human CD34+ cells, allowing nerve growth factor-induced expansion, Proc. Natl. Acad. Sci. U. S. A., 102, 4016, 10.1073/pnas.0404701102 Wang, 2005, AML1-ETO and C-KIT mutation/overexpression in t(8;21) leukemia: implication in stepwise leukemogenesis and response to Gleevec, Proc. Natl. Acad. Sci. U. S. A., 102, 1104, 10.1073/pnas.0408831102 Tsuzuki, 2004, Modeling first-hit functions of the t(12;21) TEL-AML1 translocation in mice, Proc. Natl. Acad. Sci. U. S. A., 101, 8443, 10.1073/pnas.0402063101 Fischer, 2005, Defining the oncogenic function of the TEL/AML1 (ETV6/RUNX1) fusion protein in a mouse model, Oncogene, 24, 7579, 10.1038/sj.onc.1208931 Morrow, 2004, TEL-AML1 promotes development of specific hematopoietic lineages consistent with pre-leukemic activity, Blood, 103, 3890, 10.1182/blood-2003-10-3695 Miyamoto, 2000, AML1/ETO-expressing nonleukemic stem cells in acute myelogenous leukemia with 8;21 chromosomal translocation, Proc. Natl. Acad. Sci. U. S. A., 97, 7521, 10.1073/pnas.97.13.7521 Castor, 2005, Distinct patterns of hematopoietic stem cell involvement in acute lymphoblastic leukemia, Nat. Med., 11, 630, 10.1038/nm1253 Cammenga, 2005, Extracellular KIT receptor mutants, commonly found in core binding factor AML, are constitutively active and respond to imatinib mesylate, Blood, 106, 3958, 10.1182/blood-2005-02-0583 Care, 2003, Incidence and prognosis of c-KIT and FLT3 mutations in core binding factor (CBF) acute myeloid leukaemias, Br. J. Haematol., 121, 775, 10.1046/j.1365-2141.2003.04362.x Beghini, 2004, KIT activating mutations: incidence in adult and pediatric acute myeloid leukemia, and identification of an internal tandem duplication, Haematologica, 89, 920 Lo-Coco, 2006, The biology of acute promyelocytic leukemia and its impact on diagnosis and treatment, Hematol. Am. Soc. Hematol. Educ. Prog., 29006, 162 Roumier, 2003, M0 AML, clinical and biologic features of the disease, including AML1 gene mutations: a report of 59 cases b the Groupe Francais d'Hématologie Cellulaire (GFHC) and the Groupe Francais de Cytogénétique Hématologique (GFCH), Blood, 101, 1277, 10.1182/blood-2002-05-1474 Matsuno, 2003, Dual mutations in the AML1 and FLT3 genes are associated with leukemogenesis in acute myeloblastic leukemia of the M0 subtype, Leukemia, 17, 2492, 10.1038/sj.leu.2403160 Boissel, 2006, Incidence and prognostic impact of c-Kit, FLT3, and Ras gene mutations in core binding factor acute myeloid leukemia (CBF-AML), Leukemia, 20, 965, 10.1038/sj.leu.2404188 Goemans, 2005, Mutations in KIT and RAS are frequent events in pediatric core-binding factor acute myeloid leukemia, Leukemia, 19, 1536, 10.1038/sj.leu.2403870 Martelli, 2006, Phosphoinositide 3-kinase/Akt signaling pathway and its therapeutical implications for human acute myeloid leukemia, Leukemia, 20, 911, 10.1038/sj.leu.2404245 Raynaud, 1996, The 12;21 translocation involving TEL and deletion of the other TEL allele: two frequently associated alterations found in childhood acute lymphoblastic leukemia, Blood, 87, 2891, 10.1182/blood.V87.7.2891.bloodjournal8772891 Armstrong, 2005, Molecular genetics of acute lymphoblastic leukemia, J. Clin. Oncol., 23, 6306, 10.1200/JCO.2005.05.047 Valk, 2004, Prognostically useful gene-expression profiles in acute myeloid leukemia, N. Engl. J. Med., 350, 1617, 10.1056/NEJMoa040465 Yeoh, 2002, Classification, subtype discovery, and prediction of outcome in pediatric acute lamphoblastic leukemia by gene expression profiling, Cancer Cell, 1, 133, 10.1016/S1535-6108(02)00032-6 Mullighan, 2007, Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia, Nature, 446, 758, 10.1038/nature05690 Schessl, 2005, The AML1-ETO fusion gene and the FLT3 length mutation collaborate in inducing acute leukemia in mice, J. Clin. Invest., 115, 2159, 10.1172/JCI24225 Grisolano, 2003, An activated receptor tyrosine kinase, TEL/PDGFbetaR, cooperates with AML1/ETO to induce acute myeloid leukemia in mice, Proc. Natl. Acad. Sci. U. S. A., 100, 9506, 10.1073/pnas.1531730100 Castilla, 2004, Identification of genes that synergize with Cbfb-MYH11 in the pathogenesis of acute myeloid leukemia, Proc. Natl. Acad. Sci. U. S. A., 101, 4924, 10.1073/pnas.0400930101 Landrette, 2005, Plag1 and Plagl2 are oncogenes that induce acute myeloid leukemia in cooperation with Cbfb-MYH11, Blood, 105, 2900, 10.1182/blood-2004-09-3630 Yan, 2006, A previously unidentified alternatively spliced isoform of t(8;21) transcript promotes leukemogenesis, Nat. Med., 12, 945, 10.1038/nm1443 Thiede, 2002, Analysis of FLT3-activating mutations in 979 patients with acute myelogenous leukemia: association with FAB subtypes and identification of subgroups with poor prognosis, Blood, 99, 4326, 10.1182/blood.V99.12.4326 Felsher, 2003, Cancer revoked: oncogenes as therapeutic targets, Nat. Rev., Cancer, 3, 375, 10.1038/nrc1070 Huettner, 2000, Reversibility of acute B-cell leukaemia induced by BCR-ABL1, Nat. Genet., 24, 57, 10.1038/71691 Greaves, 2003, Leukemia in twins: lessons in natural history, Blood, 102, 2321, 10.1182/blood-2002-12-3817