Morphologic and GATA1 sequencing analysis of hematopoiesis in fetuses with trisomy 21

Human Pathology

Volumn 45, Issue 5, 2014, Pages 1003-1009

  Hoeller, Sylvia ^a   Bihl, Michel P ^a   Tzankov, Alexandar ^a   Chaffard, Rosemarie ^a   Hirschmann, Petra ^a   Miny, Peter ^b   Kühne, Thomas ^b   Bruder, Elisabeth ^a  

^a UNIVERSITY HOSPITAL BASEL   (Switzerland)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Fetal; GATA1; Hematopoiesis; Megakaryoblastic leukaemia; Trisomy 21

Indexed keywords

FETAL; GATA1; HEMATOPOIESIS; MEGAKARYOBLASTIC LEUKAEMIA; TRISOMY 21;

DOWN SYNDROME; FEMALE; GATA1 TRANSCRIPTION FACTOR; HEMATOPOIESIS; HUMANS; LEUKEMIA, MEGAKARYOBLASTIC, ACUTE; LIVER; MALE; MEGAKARYOCYTES; MUTATION; MYELOPROLIFERATIVE DISORDERS; PREGNANCY; PREGNANCY TRIMESTER, SECOND; THROMBOPOIESIS;

EID: 84898782141     PISSN: 00468177     EISSN: 15328392     Source Type: Journal    
DOI: 10.1016/j.humpath.2013.12.014     Document Type: Article

References (35)

1. M.A. Canfield, M.A. Honein, and N. Yuskiv et al. National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001. Birth defects research Part A. Clin Mol Teratol 76 2006 747 756
2. S.H. Swerdlow, E. Campo, and L.H. Nancy et al. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues 2008 IARC Lyon
3. A.H. Bittles, C. Bower, R. Hussain, and E.J. Glasson The four ages of Down syndrome Eur J Public Health 17 2007 221 225
4. N.J. Roizen, and D. Patterson Down's syndrome Lancet 361 2003 1281 1289
5. A. Roy, I. Roberts, A. Norton, and P. Vyas Acute megakaryoblastic leukaemia (AMKL) and transient myeloproliferative disorder (TMD) in Down syndrome: a multi-step model of myeloid leukaemogenesis Br J Haematol 147 2009 3 12
6. K.W. Maloney Acute lymphoblastic leukaemia in children with Down syndrome: an updated review Br J Haematol 155 2011 420 425
7. S. Malinge, T. Chlon, and L.C. Dore et al. Development of acute megakaryoblastic leukemia in Down syndrome is associated with sequential epigenetic changes Blood 122 2013 e33 e43
8. S. Malinge, S. Izraeli, and J.D. Crispino Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome Blood 113 2009 2619 2628
9. M. Ahmed, A. Sternberg, and G. Hall et al. Natural history of GATA1 mutations in Down syndrome Blood 103 2004 2480 2489
10. R. Ferreira, K. Ohneda, M. Yamamoto, and S. Philipsen GATA1 function, a paradigm for transcription factors in hematopoiesis Mol Cell Biol 25 2005 1215 1227
11. E. Mancini, A. Sanjuan-Pla, and L. Luciani et al. FOG-1 and GATA-1 act sequentially to specify definitive megakaryocytic and erythroid progenitors EMBO J 31 2012 351 365
12. A. Roy, I. Roberts, and P. Vyas Biology and management of transient abnormal myelopoiesis (TAM) in children with Down syndrome Semin Fetal Neonatal Med 17 2012 196 201
13. A. Zipursky Transient leukaemia - a benign form of leukaemia in newborn infants with trisomy 21 Br J Haematol 120 2003 930 938
14. J.H. Klusmann, U. Creutzig, and M. Zimmermann et al. Treatment and prognostic impact of transient leukemia in neonates with Down syndrome Blood 111 2008 2991 2998
15. G.V. Massey, A. Zipursky, and M.N. Chang 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 107 2006 4606 4613
16. H. Muramatsu, K. Kato, and N. Watanabe et al. Risk factors for early death in neonates with Down syndrome and transient leukaemia Br J Haematol 142 2008 610 615
17. J.W. Taub, G. Mundschau, and Y. Ge et al. Prenatal origin of GATA1 mutations may be an initiating step in the development of megakaryocytic leukemia in Down syndrome Blood 104 2004 1588 1589
18. S. Hoeller, M.P. Bihl, A. Tzankov, T. Kuehne, C. Potthoff, and E. Bruder New GATA1 mutation in codon 2 leads to the earliest known premature stop codon in transient myeloproliferative disorder Blood 114 2009 3717 3718
19. B. Lange The management of neoplastic disorders of haematopoiesis in children with Down's syndrome Br J Haematol 110 2000 512 524
20. J.K. Hitzler, and A. Zipursky Origins of leukaemia in children with Down syndrome Nat Rev Cancer 5 2005 11 20
21. K.A. Alford, K. Reinhardt, and C. Garnett et al. International Myeloid Leukemia-Down Syndrome Study G. Analysis of GATA1 mutations in Down syndrome transient myeloproliferative disorder and myeloid leukemia Blood 118 2011 2222 2238
22. J. Wechsler, M. Greene, and M.A. McDevitt et al. Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome Nat Genet 32 2002 148 152
23. J.K. Hitzler, J. Cheung, Y. Li, S.W. Scherer, and A. Zipursky GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome Blood 101 2003 4301 4304
24. T. Stallmach, and L. Karolyi Augmentation of fetal granulopoiesis with chorioamnionitis during the second trimester of gestation Hum Pathol 25 1994 244 247
25. A.L. Rougemont, P. Makrythanasis, and V. Finci et al. Myeloid proliferation without GATA1 mutations in a fetus with Down syndrome presenting in utero as a pericardial effusion Pediatr Dev Pathol 13 2010 423 426
26. D.S. Brink Transient leukemia (transient myeloproliferative disorder, transient abnormal myelopoiesis) of Down syndrome Adv Anat Pathol 13 2006 256 262
27. L.M. Hollanda, C.S. Lima, and A.F. Cunha et al. An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis Nat Genet 38 2006 807 812
28. I. Khan, S. Malinge, and J. Crispino Myeloid leukemia in Down syndrome Crit Rev Oncog 16 2011 25 36
29. S. Malinge, M. Bliss-Moreau, and G. Kirsammer et al. Increased dosage of the chromosome 21 ortholog Dyrk1a promotes megakaryoblastic leukemia in a murine model of Down syndrome J Clin Invest 122 2012 948 962
30. C. Dame, and S.E. Juul The switch from fetal to adult erythropoiesis Clin Perinatol 27 2000 507 526
31. J.R. Lupski Genetics. Genome mosaicism - one human, multiple genomes Science 341 2013 358 359
32. D.C. Cabelof, H.V. Patel, and Q. Chen et al. Mutational spectrum at GATA1 provides insights into mutagenesis and leukemogenesis in Down syndrome Blood 114 2009 2753 2763
33. W. Bloom, and G.W. Bartelmez Hematopoiesis in young human embryos Am J Anat 1940 67
34. J. Gilmour Normal hemopoiesis in intrauterine and neonatal life J Pathol 1942 52
35. N.M. Moll, and R.M. Ransohoff CXCL12 and CXCR4 in bone marrow physiology Expert Rev Hematol 3 2010 315 322