Early Human Development
Volume 82, Issue 12 , Pages 767-773 , December 2006

Down myeloid disorders: A paradigm for childhood preleukaemia and leukaemia and insights into normal megakaryopoiesis

  • Paresh Vyas

      Affiliations

    • Corresponding Author InformationCorresponding authors. Vyas is to be contacted at Department of Haematology and MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford OX3 9DU, United Kingdom. Tel.: +44 1865 222309. Roberts, Department of Haematology, Hammersmith and St Mary's Hospitals, Imperial College, Commonwealth Building, Du Cane Road, London W14 0NN. Tel.: +44 208 383 2163.
  • ,
  • Irene Roberts

      Affiliations

    • Corresponding Author InformationCorresponding authors. Vyas is to be contacted at Department of Haematology and MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford OX3 9DU, United Kingdom. Tel.: +44 1865 222309. Roberts, Department of Haematology, Hammersmith and St Mary's Hospitals, Imperial College, Commonwealth Building, Du Cane Road, London W14 0NN. Tel.: +44 208 383 2163.

References 

  1. Patja K, Pukkala E, Sund R, Iivanainen M, Kaski M. Cancer incidence of persons with Down Syndrome in Finland: a population-based study. Int J Cancer. 2006;118:1769–1772
  2. Day SM, Strauss DJ, Shavelle RM, Reynolds RJ. Mortality and causes of death in persons with Down Syndrome in California. Dev Med Child Neurol. 2005;47:171–176
  3. Massey GV, Zipursky A, Chang MN, Doyle JJ, Nasim S, Taub JW, et al. A prospective study of the natural history of transient leukemia (TL) in neonates with Down Syndrome (DS): Children's Oncology Group (COG) study POG-9481. Blood. 2006;107:4606–4613
  4. Kivivuori SM, Rajantie J, Siimes MA. Peripheral blood cell counts in infants with Down's Syndrome. Clin Genet. 1996;49:15–19
  5. Webb DK. Optimizing therapy for myeloid disorders of Down Syndrome. Br J Haematol. 2005;131:3–7
  6. Taub JW, Ge Y. Down Syndrome, drug metabolism and chromosome 21. Pediatr Blood Cancer. 2005;44:33–39
  7. Wechsler J, Greene M, McDevitt MA, Anastasi J, Karp JE, Le Beau MM, et al. Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down Syndrome. Nat Genet. 2002;32:148–152
  8. Ahmed M, Sternberg A, Hall G, Thomas A, Smith O, O'Marcaigh A, et al. Natural history of GATA1 mutations in Down Syndrome. Blood. 2004;103:2480–2489
  9. Cantor AB. GATA transcription factors in hematologic disease. Int J Hematol. 2005;81:378–384
  10. Kuhl C, Atzberger A, Iborra F, Nieswandt B, Porcher C, Vyas P. GATA1-mediated megakaryocyte differentiation and growth control can be uncoupled and mapped to different domains in GATA1. Mol Cell Biol. 2005;25:8592–8606
  11. Vyas P, Norris FA, Joseph R, Majerus PW, Orkin SH. Inositol polyphosphate 4-phosphatase type I regulates cell growth downstream of transcription factor GATA-1. Proc Natl Acad Sci U S A. 2000;97:13696–13701
  12. Li Z, Godinho FJ, Klusmann JH, Garriga-Canut M, Yu C, Orkin SH. Developmental stage-selective effect of somatically mutated leukemogenic transcription factor GATA1. Nat Genet. 2005;37:613–619
  13. Muntean AG, Crispino JD. Differential requirements for the activation domain and FOG-interaction surface of GATA-1 in megakaryocyte gene expression and development. Blood. 2005;106:1223–1231
  14. Lightfoot J, Hitzler JK, Zipursky A, Albert M, Macgregor PF. Distinct gene signatures of transient and acute megakaryoblastic leukemia in Down Syndrome. Leukemia. 2004;18:1617–1623
  15. Bourquin JP, Subramanian A, Langebrake C, Reinhardt D, Bernard O, Bellerini P, et al. Identification of distinct molecular phenotypes in acute megakaryoblastic leukemia by gene expression profiling. Proc Natl Acad Sci U S A. 2006;103:3339–3344
  16. Rodriguez P, Bonte E, Krijgsveld J, Kolodziej K, Guyot B, Heck A, et al. GATA-1 forms distinct activating and repressive complexes in erythroid cells. EMBO J. 2005;24:2354–2366
  17. Hong W, Nakazawa M, Chen YY, Kori R, Vakoc CR, Rakowski C, et al. FOG-1 recruits the NuRD repressor complex to mediate transcriptional repression by GATA-1. EMBO J. 2005;24:2367–2378
  18. Greaves MF, Maia AT, Wiemels JL, Ford AM. Leukemia in twins: lessons in natural history. Blood. 2003;102:2321–2333
  19. Roper RJ, Reeves RH. Understanding the basis for Down Syndrome phenotypes PLoS. Genetics. 2006;2:e50
  20. O'Doherty A, Ruf S, Mulligan C, Hildreth V, Errington ML, Cooke S, et al. An aneuploid mouse strain carrying human chromosome 21 with Down Syndrome phenotypes. Science. 2005;309:2033–2037
  21. Hollanda LM, Lima CS, Cunha AF, Aluquerque DM, Vassallo J, Ozelo MC, et al. An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis. Nat Genet. 2006;38:807–812
  22. Walters DK, Mercher T, Gu TL, O'Hare T, Tyner JW, Loriaux M, et al. Activating alleles of JAK3 in acute megakaryoblastic leukemia. Cancer Cells. 2006;10:65–75
  23. Carpenter E, Valverde-Garduno V, Sternberg A, Mitcell C, Roberts I, Vyas P, et al. GATA1 mutation and trisomy 21 are required only in haematopoietic cells for development of transient myeloproliferative disorder. Br J Haematol. 2005;128:548–551

PII: S0378-3782(06)00252-0

doi: 10.1016/j.earlhumdev.2006.09.016

Early Human Development
Volume 82, Issue 12 , Pages 767-773 , December 2006