Biology and management of transient abnormal myelopoiesis (TAM) in children with Down syndrome

Seminars in Fetal and Neonatal Medicine

Volumn 17, Issue 4, 2012, Pages 196-201

  Roy, Anindita ^a   Roberts, Irene ^a   Vyas, Paresh ^b  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

Down syndrome; GATA1; Transient abnormal myelopoiesis

Indexed keywords

AMINOTRANSFERASE; BILIRUBIN; CYTARABINE; HEMOGLOBIN; TRANSCRIPTION FACTOR GATA 1;

ASCITES; BLEEDING TENDENCY; BLOOD CLOTTING; CANCER INVASION; CLINICAL FEATURE; DISEASE COURSE; DOWN SYNDROME; GENE MUTATION; HEMATOPOIESIS; HEMATOPOIETIC STEM CELL; HEPATOMEGALY; HUMAN; HYDROPS; JAUNDICE; KIDNEY FAILURE; LEUKOCYTOSIS; LIVER FIBROSIS; MUTATIONAL ANALYSIS; MYELOPROLIFERATIVE DISORDER; PATHOGENESIS; PERICARDIAL EFFUSION; PLEURA EFFUSION; RASH; RESPIRATORY DISTRESS; REVIEW; SPLENOMEGALY; THROMBOCYTE COUNT; TRANSIENT ABNORMAL MYELOPOIESIS; TREATMENT INDICATION; TRISOMY 21;

BLOOD CELL COUNT; BLOOD CELLS; CHILD; CHILD DEVELOPMENT; DOWN SYNDROME; GATA1 TRANSCRIPTION FACTOR; HUMANS; INFANT; INFANT, NEWBORN; LEUKEMIA, MEGAKARYOBLASTIC, ACUTE; LEUKEMIA, MYELOID, ACUTE; MYELOPOIESIS; NEOPLASM REGRESSION, SPONTANEOUS;

EID: 84862215644     PISSN: 1744165X     EISSN: 18780946     Source Type: Journal    
DOI: 10.1016/j.siny.2012.02.010     Document Type: Review

References (48)

1. Bajwa R.P., Skinner R., Windebank K.P., Reid M.M. Demographic study of leukaemia presenting within the first 3 months of life in the Northern Health Region of England. J Clin Pathol 2004, 57:186-188.
2. Pine S.R., Guo Q., Yin C., Jayabose S., Druschel C.M., Sandoval C. Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome. Blood 2007, 110:2128-2131.
3. Zipursky A. Transient leukaemia-a benign form of leukaemia in newborn infants with trisomy 21. Br J Haematol 2003, 120:930-938.
4. Klusmann J.H., Creutzig U., Zimmermann M., et al. Treatment and prognostic impact of transient leukemia in neonates with Down syndrome. Blood 2008, 111:2991-2998.
5. Massey G.V., Zipursky A., Chang M.N., 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.
6. Muramatsu H., Kato K., Watanabe N., et al. Risk factors for early death in neonates with Down syndrome and transient leukaemia. Br J Haematol 2008, 142:610-615.
7. Ahmed M., Sternberg A., Hall G., et al. Natural history of GATA1 mutations in Down syndrome. Blood 2004, 103:2480-2489.
8. Hitzler J.K., Cheung J., Li Y., Scherer S.W., Zipursky A. GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome. Blood 2003, 101:4301-4304.
9. Mundschau G., Gurbuxani S., Gamis A.S., Greene M.E., Arceci R.J., Crispino J.D. Mutagenesis of GATA1 is an initiating event in Down syndrome leukemogenesis. Blood 2003, 101:4298-4300.
10. Wechsler J., Greene M., McDevitt M.A., et al. Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nat Genet 2002, 32:148-152.
11. Gamis A.S., Alonzo T.A., Gerbing R.B., et al. Natural history of transient myeloproliferative disorder clinically diagnosed in Down syndrome neonates: a report from the Children's Oncology Group Study A2971. Blood 2011.
12. Heald B., Hilden J.M., Zbuk K., et al. Severe TMD/AMKL with GATA1 mutation in a stillborn fetus with Down syndrome. Nat Clin Pract Oncol 2007, 4:433-438.
13. Robertson M., De Jong G., Mansvelt E. Prenatal diagnosis of congenital leukemia in a fetus at 25 weeks' gestation with Down syndrome: case report and review of the literature. Ultrasound Obstet Gynecol 2003, 21:486-489.
14. Smrcek J.M., Baschat A.A., Germer U., Gloeckner-Hofmann K., Gembruch U. Fetal hydrops and hepatosplenomegaly in the second half of pregnancy: a sign of myeloproliferative disorder in fetuses with trisomy 21. Ultrasound Obstet Gynecol 2001, 17:403-409.
15. Roy A., Roberts I., Norton A., Vyas P. Acute megakaryoblastic leukaemia (AMKL) and transient myeloproliferative disorder (TMD) in Down syndrome: a multi-step model of myeloid leukaemogenesis. Br J Haematol 2009, 147:3-12.
16. Girodon F., Favre B., Couillaud G., Carli P.M., Parmeland C., Maynadie M. Immunophenotype of a transient myeloproliferative disorder in a newborn with trisomy 21. Cytometry 2000, 42:118-122.
17. Karandikar N.J., Aquino D.B., McKenna R.W., Kroft S.H. Transient myeloproliferative disorder and acute myeloid leukemia in Down syndrome. An immunophenotypic analysis. Am J Clin Pathol 2001, 116:204-210.
18. Langebrake C., Creutzig U., Reinhardt D. Immunophenotype of Down syndrome acute myeloid leukemia and transient myeloproliferative disease differs significantly from other diseases with morphologically identical or similar blasts. Klin Padiatr 2005, 217:126-134.
19. Norton A., Hall G., Richmond H., Roy A., Cowan G. Trilineage Perturbation of Hematopoiesis In Neonates with Down Syndrome. Blood 2010, 116(21):876.
20. Alford K.A., Reinhardt K., Garnett C., et al. Analysis of GATA1 mutations in Down syndrome transient myeloproliferative disorder and myeloid leukemia. Blood 2011, 118:2222-2238.
21. Pine S.R., Guo Q., Yin C., et al. GATA1 as a new target to detect minimal residual disease in both transient leukemia and megakaryoblastic leukemia of Down syndrome. Leuk Res 2005, 29:1353-1356.
22. Taub J.W., Matherly L.H., Stout M.L., Buck S.A., Gurney J.G., Ravindranath Y. Enhanced metabolism of 1-beta-D-arabinofuranosylcytosine in Down syndrome cells: a contributing factor to the superior event free survival of Down syndrome children with acute myeloid leukemia. Blood 1996, 87:3395-3403.
23. Xu G., Nagano M., Kanezaki R., et al. Frequent mutations in the GATA-1 gene in the transient myeloproliferative disorder of Down syndrome. Blood 2003, 102:2960-2968.
24. Rainis L., Bercovich D., Strehl S., et al. Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21. Blood 2003, 102:981-986.
25. Groet J., McElwaine S., Spinelli M., et al. Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder. Lancet 2003, 361:1617-1620.
26. Hollanda L.M., Lima C.S., Cunha A.F., 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.
27. Carpenter E., Valverde-Garduno V., Sternberg A., 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.
28. Cushing T., Clericuzio C.L., Wilson C.S., et al. Risk for leukemia in infants without Down syndrome who have transient myeloproliferative disorder. J Pediatr 2006, 148:687-689.
29. Li Z., Godinho F.J., Klusmann J.H., Garriga-Canut M., Yu C., Orkin S.H. Developmental stage-selective effect of somatically mutated leukemogenic transcription factor GATA1. Nat Genet 2005, 37:613-619.
30. Tunstall-Pedoe O., Roy A., Karadimitris A., et al. Abnormalities in the myeloid progenitor compartment in Down syndrome fetal liver precede acquisition of GATA1 mutations. Blood 2008, 112:4507-4511.
31. Chou S.T., Opalinska J.B., Yao Y., et al. Trisomy 21 enhances human fetal erythro-megakaryocytic development. Blood 2008, 112:4503-4506.
32. Ronan A., Fagan K., Christie L., Conroy J., Nowak N.J., Turner G. Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region. J Med Genet 2007, 44:448-451.
33. Delabar J.M., Theophile D., Rahmani Z., et al. Molecular mapping of twenty-four features of Down syndrome on chromosome 21. Eur J Hum Genet 1993, 1:114-124.
34. Lyle R., Bena F., Gagos S., et al. Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet 2008.
35. Bourquin J.P., Subramanian A., Langebrake C., 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.
36. Rainis L., Toki T., Pimanda J.E., et al. The proto-oncogene ERG in megakaryoblastic leukemias. Cancer Res 2005, 65:7596-7602.
37. Stankiewicz M.J., Crispino J.D. ETS2 and ERG promote megakaryopoiesis and synergize with alterations in GATA-1 to immortalize hematopoietic progenitor cells. Blood 2009, 113:3337-3347.
38. Elagib K.E., Racke F.K., Mogass M., Khetawat R., Delehanty L.L., Goldfarb A.N. RUNX1 and GATA-1 coexpression and cooperation in megakaryocytic differentiation. Blood 2003, 101:4333-4341.
39. Kirsammer G., Jilani S., Liu H., et al. Highly penetrant myeloproliferative disease in the Ts65Dn mouse model of Down syndrome. Blood 2008, 111:767-775.
40. Xu G., Kanezaki R., Toki T., et al. Physical association of the patient-specific GATA1 mutants with RUNX1 in acute megakaryoblastic leukemia accompanying Down syndrome. Leukemia 2006, 20:1002-1008.
41. Klusmann J.H., Li Z., Bohmer K., et al. miR-125b-2 is a potential oncomiR on human chromosome 21 in megakaryoblastic leukemia. Genes Dev 2010, 24:478-490.
42. Garzon R., Pichiorri F., Palumbo T., et al. MicroRNA fingerprints during human megakaryocytopoiesis. Proc Natl Acad Sci U S A 2006, 103:5078-5083.
43. O'Doherty A., Ruf S., Mulligan C., et al. An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science 2005, 309:2033-2037.
44. 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.
45. Muntean A.G., Crispino J.D. Differential requirements for the activation domain and FOG-interaction surface of GATA-1 in megakaryocyte gene expression and development. Blood 2005, 106:1223-1231.
46. Stachura D.L., Chou S.T., Weiss M.J. Early block to erythromegakaryocytic development conferred by loss of transcription factor GATA-1. Blood 2006, 107:87-97.
47. Klusmann J.H., Godinho F.J., Heitmann K., et al. Developmental stage-specific interplay of GATA1 and IGF signaling in fetal megakaryopoiesis and leukemogenesis. Genes Dev 2010, 24:1659-1672.
48. Malinge S., Izraeli S., Crispino J.D. Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome. Blood 2009, 113:2619-2628.