Mouse models of myelodysplastic syndromes

Hematology/Oncology Clinics of North America

Volumn 24, Issue 2, 2010, Pages 361-375

  Beachy, Sarah H ^a   Aplan, Peter D ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

Author keywords

Genetically engineered mice; Hoxa; Mouse model; Myelodysplastic syndrome; Xenotransplant

Indexed keywords

BETA 2 MICROGLOBULIN; DNA DIRECTED DNA POLYMERASE GAMMA; NUCLEOPHOSMIN; NUCLEOPORIN 98; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN BCL 2; PROTEIN TYROSINE KINASE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR HOXD13; TRANSCRIPTION FACTOR RUNX1; TRANSCRIPTION FACTOR SALL4; UNCLASSIFIED DRUG;

ACUTE LYMPHOCYTIC LEUKEMIA; CD34 SELECTION; CYTOPENIA; ENGRAFTMENT; ERYTHROBLAST; GENE OVEREXPRESSION; GENETIC ENGINEERING; GRANULOPOIESIS; MEGAKARYOCYTE; MEGALOBLASTIC ANEMIA; MYELODYSPLASTIC SYNDROME; NEUTROPENIA; NONHUMAN; NONOBESE DIABETIC MOUSE; PRIORITY JOURNAL; REVIEW; SPLENOMEGALY; THROMBOCYTOPENIA; XENOTRANSPLANTATION;

ANIMALS; CARCINOGENS; DISEASE MODELS, ANIMAL; DNA-BINDING PROTEINS; GENE EXPRESSION REGULATION; GENE KNOCK-IN TECHNIQUES; GENES, HOMEOBOX; GENES, TUMOR SUPPRESSOR; HEMATOPOIESIS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; MICE; MICE, INBRED NOD; MICE, KNOCKOUT; MICE, SCID; MICE, TRANSGENIC; MUTAGENS; MYELODYSPLASTIC SYNDROMES; MYELOID CELLS; PROTO-ONCOGENES; SPECIES SPECIFICITY; TRANSPLANTATION, HETEROLOGOUS;

EID: 77950536672     PISSN: 08898588     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hoc.2010.02.002     Document Type: Review

References (71)

1. Funk R.K., Maxwell T.J., Izumi M., et al. Quantitative trait loci associated with susceptibility to therapy-related acute murine promyelocytic leukemia in hCG-PML/RARA transgenic mice. Blood 2008, 112:1434.
2. Fenske T.S., McMahon C., Edwin D., et al. Identification of candidate alkylator-induced cancer susceptibility genes by whole genome scanning in mice. Cancer Res 2006, 66:5029.
3. Suzuki T., Shen H., Akagi K., et al. New genes involved in cancer identified by retroviral tagging. Nat Genet 2002, 32:166.
4. Naka T., Sugamura K., Hylander B.L., et al. Effects of tumor necrosis factor-related apoptosis-inducing ligand alone and in combination with chemotherapeutic agents on patients' colon tumors grown in SCID mice. Cancer Res 2002, 62:5800.
5. Lin Y.W., Slape C., Zhang Z., et al. NUP98-HOXD13 transgenic mice develop a highly penetrant, severe myelodysplastic syndrome that progresses to acute leukemia. Blood 2005, 106:287.
6. Xu Y., Silver D.F., Yang N.P., et al. Characterization of human ovarian carcinomas in a SCID mouse model. Gynecol Oncol 1999, 72:161.
7. Sakakibara T., Xu Y., Bumpers H.L., et al. Growth and metastasis of surgical specimens of human breast carcinomas in SCID mice. Cancer J Sci Am 1996, 2:291.
8. Bonnet D., Dick J.E. Human acute myeloid leukemia is organized as a hierarchy that originates from a primitive hematopoietic cell. Nat Med 1997, 3:730.
9. Wang J.C., Lapidot T., Cashman J.D., et al. High level engraftment of NOD/SCID mice by primitive normal and leukemic hematopoietic cells from patients with chronic myeloid leukemia in chronic phase. Blood 1998, 91:2406.
10. Lapidot T., Sirard C., Vormoor J., et al. A cell initiating human acute myeloid leukaemia after transplantation into SCID mice. Nature 1994, 367:645.
11. Taussig D.C., Miraki-Moud F., Anjos-Afonso F., et al. Anti-CD38 antibody-mediated clearance of human repopulating cells masks the heterogeneity of leukemia-initiating cells. Blood 2008, 112:568.
12. Steube K.G., Gignac S.M., Hu Z.B., et al. In vitro culture studies of childhood myelodysplastic syndrome: establishment of the cell line MUTZ-1. Leuk Lymphoma 1997, 25:345.
13. Kim D.K., Kojima M., Fukushima T., et al. Engraftment of human myelodysplastic syndrome derived cell line in transgenic severe combined immunodeficient (TG-SCID) mice expressing human GM-CSF and IL-3. Eur J Haematol 1998, 61:93.
14. Nilsson L., Astrand-Grundstrom I., Arvidsson I., et al. Isolation and characterization of hematopoietic progenitor/stem cells in 5q-deleted myelodysplastic syndromes: evidence for involvement at the hematopoietic stem cell level. Blood 2000, 96:2012.
15. Nilsson L., Astrand-Grundstrom I., Anderson K., et al. Involvement and functional impairment of the CD34(+)CD38(-)Thy-1(+) hematopoietic stem cell pool in myelodysplastic syndromes with trisomy 8. Blood 2002, 100:259.
16. Benito A.I., Bryant E., Loken M.R., et al. NOD/SCID mice transplanted with marrow from patients with myelodysplastic syndrome (MDS) show long-term propagation of normal but not clonal human precursors. Leuk Res 2003, 27:425.
17. Thanopoulou E., Cashman J., Kakagianne T., et al. Engraftment of NOD/SCID-beta2 microglobulin null mice with multilineage neoplastic cells from patients with myelodysplastic syndrome. Blood 2004, 103:4285.
18. Kerbauy D.M., Lesnikov V., Torok-Storb B., et al. Engraftment of distinct clonal MDS-derived hematopoietic precursors in NOD/SCID-beta2-microglobulin-deficient mice after intramedullary transplantation of hematopoietic and stromal cells. Blood 2004, 104:2202.
19. Helgason C.D., Damen J.E., Rosten P., et al. Targeted disruption of SHIP leads to hemopoietic perturbations, lung pathology, and a shortened life span. Genes Dev 1998, 12:1610.
20. Liu Q., Sasaki T., Kozieradzki I., et al. SHIP is a negative regulator of growth factor receptor-mediated PKB/Akt activation and myeloid cell survival. Genes Dev 1999, 13:786.
21. Moody J.L., Xu L., Helgason C.D., et al. Anemia, thrombocytopenia, leukocytosis, extramedullary hematopoiesis, and impaired progenitor function in Pten+/-SHIP-/- mice: a novel model of myelodysplasia. Blood 2004, 103:4503.
22. Futterer A., Campanero M.R., Leonardo E., et al. Dido gene expression alterations are implicated in the induction of hematological myeloid neoplasms. J Clin Invest 2005, 115:2351.
23. Louz D., van den Broek M., Verbakel S., et al. Erythroid defects and increased retrovirally-induced tumor formation in Evi1 transgenic mice. Leukemia 2000, 14:1876.
24. Buonamici S., Li D., Chi Y., et al. EVI1 induces myelodysplastic syndrome in mice. J Clin Invest 2004, 114:713.
25. Laricchia-Robbio L., Fazzina R., Li D., et al. Point mutations in two EVI1 Zn fingers abolish EVI1-GATA1 interaction and allow erythroid differentiation of murine bone marrow cells. Mol Cell Biol 2006, 26:7658.
26. Laricchia-Robbio L., Premanand K., Rinaldi C.R., et al. EVI1 Impairs myelopoiesis by deregulation of PU.1 function. Cancer Res 2009, 69:1633.
27. Grisendi S., Bernardi R., Rossi M., et al. Role of nucleophosmin in embryonic development and tumorigenesis. Nature 2005, 437:147.
28. Sportoletti P., Grisendi S., Majid S.M., et al. Npm1 is a haploinsufficient suppressor of myeloid and lymphoid malignancies in the mouse. Blood 2008, 111:3859.
29. Tosic N., Stojiljkovic M., Colovic N., et al. Acute myeloid leukemia with NUP98-HOXC13 fusion and FLT3 internal tandem duplication mutation: case report and literature review. Cancer Genet Cytogenet 2009, 193:98.
30. Moore M.A., Chung K.Y., Plasilova M., et al. NUP98 dysregulation in myeloid leukemogenesis. Ann N Y Acad Sci 2007, 1106:114.
31. Slape C., Aplan P.D. The role of NUP98 gene fusions in hematologic malignancy. Leuk Lymphoma 2004, 45:1341.
32. Pineault N., Buske C., Feuring-Buske M., et al. Induction of acute myeloid leukemia in mice by the human leukemia-specific fusion gene NUP98-HOXD13 in concert with Meis1. Blood 2003, 101:4529.
33. Raza-Egilmez S.Z., Jani-Sait S.N., Grossi M., et al. NUP98-HOXD13 gene fusion in therapy-related acute myelogenous leukemia. Cancer Res 1998, 58:4269.
34. Slape C., Lin Y.W., Hartung H., et al. NUP98-HOX translocations lead to myelodysplastic syndrome in mice and men. J Natl Cancer Inst Monographs 2008, 64.
35. Yang J., Chai L., Fowles T.C., et al. Genome-wide analysis reveals Sall4 to be a major regulator of pluripotency in murine-embryonic stem cells. Proc Natl Acad Sci U S A 2008, 105:19756.
36. Ma Y., Cui W., Yang J., et al. SALL4, a novel oncogene, is constitutively expressed in human acute myeloid leukemia (AML) and induces AML in transgenic mice. Blood 2006, 108:2726.
37. Omidvar N., Kogan S., Beurlet S., et al. BCL-2 and mutant NRAS interact physically and functionally in a mouse model of progressive myelodysplasia. Cancer Res 2007, 67:11657.
38. Watanabe-Okochi N., Kitaura J., Ono R., et al. AML1 mutations induced MDS and MDS/AML in a mouse BMT model. Blood 2008, 111:4297.
39. Lai A., Kennedy B.K., Barbie D.A., et al. RBP1 recruits the mSIN3-histone deacetylase complex to the pocket of retinoblastoma tumor suppressor family proteins found in limited discrete regions of the nucleus at growth arrest. Mol Cell Biol 2001, 21:2918.
40. Wu M.Y., Tsai T.F., Beaudet A.L. Deficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain. Genes Dev 2006, 20:2859.
41. Wu M.Y., Eldin K.W., Beaudet A.L. Identification of chromatin remodeling genes Arid4a and Arid4b as leukemia suppressor genes. J Natl Cancer Inst 2008, 100:1247.
42. Shin M.G., Kajigaya S., Levin B.C., et al. Mitochondrial DNA mutations in patients with myelodysplastic syndromes. Blood 2003, 101:3118.
43. Shin M.G., Kajigaya S., McCoy J.P., et al. Marked mitochondrial DNA sequence heterogeneity in single CD34+ cell clones from normal adult bone marrow. Blood 2004, 103:553.
44. Gattermann N., Wulfert M., Junge B., et al. Ineffective hematopoiesis linked with a mitochondrial tRNA mutation (G3242A) in a patient with myelodysplastic syndrome. Blood 2004, 103:1499.
45. Wulfert M., Kupper A.C., Tapprich C., et al. Analysis of mitochondrial DNA in 104 patients with myelodysplastic syndromes. Exp Hematol 2008, 36:577.
46. Yao Y.G., Ogasawara Y., Kajigaya S., et al. Mitochondrial DNA sequence variation in single cells from leukemia patients. Blood 2007, 109:756.
47. Kujoth G.C., Hiona A., Pugh T.D., et al. Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging. Science 2005, 309:481.
48. Chen M.L., Logan T.D., Hochberg M.L., et al. Erythroid dysplasia, megaloblastic anemia, and impaired lymphopoiesis arising from mitochondrial dysfunction. Blood 2009, 114:4045.
49. Choi C.W., Chung Y.J., Slape C., et al. A NUP98-HOXD13 fusion gene impairs differentiation of B and T lymphocytes and leads to expansion of thymocytes with partial TCRB gene rearrangement. J Immunol 2009, 183:6227.
50. Choi C.W., Chung Y.J., Slape C., et al. Impaired differentiation and apoptosis of hematopoietic precursors in a mouse model of myelodysplastic syndrome. Haematologica 2008, 93:1394.
51. Chung Y.J., Choi C.W., Slape C., et al. Transplantation of a myelodysplastic syndrome by a long-term repopulating hematopoietic cell. Proc Natl Acad Sci U S A 2008, 105:14088.
52. Slape C., Chung Y.J., Soloway P.D., et al. Mouse embryonic stem cells that express a NUP98-HOXD13 fusion protein are impaired in their ability to differentiate and can be complemented by BCR-ABL. Leukemia 2007, 21:1239.
53. Slape C., Hartung H., Lin Y.W., et al. Retroviral insertional mutagenesis identifies genes that collaborate with NUP98-HOXD13 during leukemic transformation. Cancer Res 2007, 67:5148.
54. Slape C., Liu L.Y., Beachy S., et al. Leukemic transformation in mice expressing a NUP98-HOXD13 transgene is accompanied by spontaneous mutations in Nras, Kras, and Cbl. Blood 2008, 112:2017.
55. Ahuja H.G., Felix C.A., Aplan P.D. The t(11;20)(p15;q11) chromosomal translocation associated with therapy-related myelodysplastic syndrome results in an NUP98-TOP1 fusion. Blood 1999, 94:3258.
56. Brown J., Jawad M., Twigg S.R., et al. A cryptic t(5;11)(q35;p15.5) in 2 children with acute myeloid leukemia with apparently normal karyotypes, identified by a multiplex fluorescence in situ hybridization telomere assay. Blood 2002, 99:2526.
57. Ikeda T., Ikeda K., Sasaki K., et al. The inv(11)(p15q22) chromosome translocation of therapy-related myelodysplasia with NUP98-DDX10 and DDX10-NUP98 fusion transcripts. Int J Hematol 1999, 69:160.
58. Jaju R.J., Fidler C., Haas O.A., et al. A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia. Blood 2001, 98:1264.
59. Romana S.P., Radford-Weiss I., Ben Abdelali R., et al. NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogenetique Hematologique. Leukemia 2006, 20:696.
60. Palmqvist L., Pineault N., Wasslavik C., et al. Candidate genes for expansion and transformation of hematopoietic stem cells by NUP98-HOX fusion genes. PLoS one 2007, 2:e768.
61. Chen G., Zeng W., Miyazato A., et al. Distinctive gene expression profiles of CD34 cells from patients with myelodysplastic syndrome characterized by specific chromosomal abnormalities. Blood 2004, 104:4210.
62. Disperati P., Ichim C.V., Tkachuk D., et al. Progression of myelodysplasia to acute lymphoblastic leukaemia: implications for disease biology. Leuk Res 2006, 30:233.
63. Sato N., Nakazato T., Kizaki M., et al. Transformation of myelodysplastic syndrome to acute lymphoblastic leukemia: a case report and review of the literature. Int J Hematol 2004, 79:147.
64. San Miguel J.F., Hernandez J.M., Gonzalez-Sarmiento R., et al. Acute leukemia after a primary myelodysplastic syndrome: immunophenotypic, genotypic, and clinical characteristics. Blood 1991, 78:768.
65. Bonati A., Delia D., Starcich R. Progression of a myelodysplastic syndrome to pre-B acute lymphoblastic leukaemia with unusual phenotype. Br J Haematol 1986, 64:487.
66. Gilliland D.G., Tallman M.S. Focus on acute leukemias. Cancer Cell 2002, 1:417.
67. Dash A.B., Williams I.R., Kutok J.L., et al. A murine model of CML blast crisis induced by cooperation between BCR/ABL and NUP98/HOXA9. Proc Natl Acad Sci U S A 2002, 99:7622.
68. Touw I.P., Erkeland S.J. Retroviral insertion mutagenesis in mice as a comparative oncogenomics tool to identify disease genes in human leukemia. Mol Ther 2007, 15:13.
69. Broliden P.A., Dahl I.M., Hast R., et al. Antithymocyte globulin and cyclosporine A as combination therapy for low-risk non-sideroblastic myelodysplastic syndromes. Haematologica 2006, 91:667.
70. Yazji S., Giles F.J., Tsimberidou A.M., et al. Antithymocyte globulin (ATG)-based therapy in patients with myelodysplastic syndromes. Leukemia 2003, 17:2101.
71. Kochenderfer J.N., Kobayashi S., Wieder E.D., et al. Loss of T-lymphocyte clonal dominance in patients with myelodysplastic syndrome responsive to immunosuppression. Blood 2002, 100:3639.