Transient leukemia of Down syndrome

References

• Parker SE, Mai CT, Canfield MA, et al. Updated national birth prevalence estimates for selected birth defects in the United States, 2004–2006. Birth Defects Res A Clin Mol Teratol. 2010;88:1008–1016.
   PubMed Web of Science ®Google Scholar
• Ng M, Fleming T, Robinson M, et al. Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990–2015: a systematic analysis for the Global Burden of Disease Study 2015. Lancet. 2016;388(10053):1545–1602.
   PubMed Web of Science ®Google Scholar
• Control of Hereditary Diseases. Report of a WHO Scientific Group. World Health Organ Tech Rep Ser. 1996;865:1–84.
   PubMed Web of Science ®Google Scholar
• Christianson A, Modell B. Medical genetics in developing countries. Annu Rev Genom Hum Genet. 2004;5:219–265.
   PubMed Web of Science ®Google Scholar
• Hickey F, Hickey E, Summar KL. Medical update for children with Down syndrome for the pediatrician and family practitioner. Adv Pediatr. 2012;59:137–157.
   PubMedGoogle Scholar
• Wright D. Downs: the history of a disability. J Can Acad Child Adolesc Psychiatry. 2013;22:180–181.
   Google Scholar
• Roizen NJ. Complementary and alternative therapies for Down syndrome. Ment Retard Dev Disabil Res Rev. 2005;11:149–155.
   PubMedGoogle Scholar
• Adams MB. The wellborn science: eugenics in Germany, France, Brazil and Russia. Monographs on the history and philosophy of biology. New York: Oxford University Press; 1990.
   Google Scholar
• Neri G, Opitz JM. Down syndrome: comments and reflections on the 50th anniversary of Lejeune’s discovery. Am J Med Genet. 2009;149:2647–2654.
   Google Scholar
• Lejeune J, Gautier M, Turpin R. Study of somatic chromosomes from 9 mongoloid children. C R Hebd Seances Acad Sci. 1959;248:1721–1722.
   PubMed Web of Science ®Google Scholar
• Jacobs PA, Court Brown WM, Baikie AG, et al. The somatic chromosomes in mongolism. Lancet. 1959;1:710.
   PubMed Web of Science ®Google Scholar
• Gamis AS, Woods WG, Alonzo TA, et al. Increased age at diagnosis has a significantly negative effect on outcome in children with Down syndrome and acute myeloid leukemia: a report from the Children’s Cancer Group study 2891. JCO. 2003;21:3415–3422.
   PubMed Web of Science ®Google Scholar
• Roizen NJ, Patterson D. Down's syndrome. Lancet. 2003;361:1281–1289.
   PubMed Web of Science ®Google Scholar
• Kucik JE, Shin M, Siffel C, et al. Trends in survival among children with Down syndrome in 10 regions of the United States. Pediatrics. 2013;131:e27–e36.
   PubMed Web of Science ®Google Scholar
• Hasle H, Schendel D, Friedman JM, et al. Survival among people with Down syndrome: a nationwide population-based study in Denmark. Genet Med. 2012;15:64–69.
   PubMed Web of Science ®Google Scholar
• Castilla EE, Rittler M, Dutra MG, et al. Survival of children with Down syndrome in South America. Am J Med Genet. 1998;79:108–111.
   PubMed Web of Science ®Google Scholar
• Christianson AL, van den Berg HJ, van Rensburg P, et al. Mid-pregnancy genetic terminations of pregnancy-postnatal assessment and management. S Afr Med J. 1995;85:1084–1087.
   PubMed Web of Science ®Google Scholar
• Castillo Taucher S. Services for the care and prevention of birth defects. Reduced report of a World Health Organization and March of Dimes Foundation meeting. Rev Med Chil. 2007;135:806–813.
   PubMed Web of Science ®Google Scholar
• St. Louis AM, Kim K, Browne ML, et al. Prevalence trends of selected major birth defects: a multi-state population-based retrospective study, United States, 1999 to 2007. Birth Defects Res. 2017;109:1442–1450.
   PubMed Web of Science ®Google Scholar
• O’Neill ME, Ryan A, Kwon S, et al. Evaluation of pediatrician adherence to the American Academy of Pediatrics Health Supervision Guidelines for Down Syndrome. Am J Intellect Dev Disabil. 2018;123:387–398.
   PubMedGoogle Scholar
• Roge C, Cooper M, Tarnoff H, et al. Health supervision for children with Down syndrome. Pediatrics. 1997;99:145–146.
   PubMedGoogle Scholar
• Tandonnet J, Clavel J, Baruchel A, et al. Myeloid leukaemia in children with Down syndrome: report of the Registry-based French Experience between 1990 and 2003. Pediatr Blood Cancer. 2010;54:927–933.
   PubMed Web of Science ®Google Scholar
• Xavier AC, Ge Y, Taub J. Unique clinical and biological features of leukemia in Down syndrome children. Expert Rev Hematol. 2010;3:175–186.
   PubMed Web of Science ®Google Scholar
• Lange BJ, Kobrinsky N, Barnard DR, et al. Distinctive demography, biology, and outcome of acute myeloid leukemia and myelodysplastic syndrome in children with Down syndrome: Children’s Cancer Group Studies 2861 and 2891. Blood. 1998;91:608–615.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Peña-Padilla C, Corona-Rivera A, Orozco-Vela M, et al. Descriptive study of the complete blood count in newborn infants with Down syndrome. Am J Med Genet A. 2017;173:897–904.
   PubMed Web of Science ®Google Scholar
• Jackson GL, Sendelbach DM, Rambally B, et al. Circulating blasts and associated hematologic disorders in neonates with Down syndrome. Am J Perinatol. 2012;29:259–265.
   PubMed Web of Science ®Google Scholar
• Sakaguchi H, Shimada A, Takahashi Y, et al. Molecular lesions in childhood and adult acute megakaryoblastic leukaemia. Br J Haematol. 2011;156:316–325.
   PubMed Web of Science ®Google Scholar
• Kudo K, Hama A, Kojima S, et al. Mosaic Down syndrome-associated acute myeloid leukemia does not require high-dose cytarabine treatment for induction and consolidation therapy. Int J Hematol. 2010;91:630–635.
   PubMed Web of Science ®Google Scholar
• Kanegane H, Kogawa K, Ito E, et al. Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia. Blood. 2010;116:4631–4638.
   PubMed Web of Science ®Google Scholar
• Gamis AS, Alonzo TA, Gerbing RB, 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;118:6752–6759.
   PubMed Web of Science ®Google Scholar
• Gamis AS, Hilden JM. Transient myeloproliferative disorder, a disorder with too few data and many unanswered questions: does it contain an important piece of the puzzle to understanding hematopoiesis and acute myelogenous leukemia? J Pediatr Hematol Oncol. 2002;24:2–5.
   PubMed Web of Science ®Google Scholar
• Vardiman JW, Arber DA, Brunning RD, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia : rationale and important changes. Blood. 2009;114:937–952.
   PubMed Web of Science ®Google Scholar
• Tunstall O, Bhatnagar N, James B, et al. Guidelines for the investigation and management of transient leukaemia of Down syndrome. Br J Haematol. 2018;182:200–211.
   PubMed Web of Science ®Google Scholar
• Roberts I, Alford K, Hall G, et al. GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia. Blood. 2013;122:3908–3917.
   PubMed Web of Science ®Google Scholar
• Yin L, Lovell MA, Wilson ML, et al. Distinct GATA1 point mutations in monozygotic twins with Down syndrome and transient abnormal myelopoiesis from a triplet pregnancy a case report and review. Am J Clin Pathol. 2016;146:753–759.
   PubMed Web of Science ®Google Scholar
• Bhatnagar N, Nizery L, Tunstall O, et al. Transient abnormal myelopoiesis and AML in Down syndrome: an update. Curr Hematol Malig Rep. 2016;11:333–341.
   PubMed Web of Science ®Google Scholar
• Zipursky A. Transient leukaemia-a benign form of leukaemia in newborn infants with trisomy 21. Br J Haematol. 2003;120:930.
   PubMed Web of Science ®Google Scholar
• Crispino JD. GATA1 mutations in Down syndrome: implications for biology and diagnosis of children with transient myeloproliferative disorder and acute megakaryoblastic leukemia. Pediatr Blood Cancer. 2005;44:40–44.
   PubMed Web of Science ®Google Scholar
• Massey GV, Zipursky A, Chang MN, 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Shimada A, Xu G, Toki T, et al. Fetal origin of the GATA1 mutation in identical twins with transient myeloproliferative disorder and acute megakaryoblastic leukemia accompanying Down syndrome. Blood. 2004;103:366.
   PubMed Web of Science ®Google Scholar
• Taub JW, Mundschau G, Ge Y, et al. Prenatal origin of GATA1 mutations may be an initiating step in the development of megakaryocytic leukemia in Down syndrome. Blood. 2004;104:1588–1589.
   PubMed Web of Science ®Google Scholar
• Tamblyn JA, Norton A, Spurgeon L, et al. Prenatal therapy in transient abnormal myelopoiesis: a systematic review. Arch Dis Child Fetal Neonatal Ed. 2016;101:67–71.
   PubMed Web of Science ®Google Scholar
• Gamis AS, Smith FO. Transient myeloproliferative disorder in children with Down syndrome: clarity to this enigmatic disorder. Br J Haematol. 2012;159:277–287.
   PubMed Web of Science ®Google Scholar
• Miyauchi J, Ito Y, Kawano T, et al. Unusual diffuse liver fibrosis accompanying transient myeloproliferative disorder in Down's syndrome: a report of four autopsy cases and proposal of a hypothesis. Blood. 1992;80:1521–1527.
   PubMed Web of Science ®Google Scholar
• Klusmann JH, Godinho FJ, Heitmann K, et al. Developmental stage-specific interplay of GATA1 and IGF signaling in fetal megakaryopoiesis and leukemogenesis. Genes Dev. 2010;24:1659–1672.
   PubMed Web of Science ®Google Scholar
• Klusmann JH, Li Z, Böhmer K, et al. miR-125b-2 is a potential oncomiR on human chromosome 21 in megakaryoblastic leukemia. Genes Dev. 2010;24:478–490.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Hitzler JK, Zipursky A. Origins of leukaemia in children with Down syndrome. Nat Rev Cancer. 2005;5:11–20.
   PubMed Web of Science ®Google Scholar
• Saida S. Evolution of myeloid leukemia in children with Down syndrome. Int J Hematol. 2016;103:365–372.
   PubMed Web of Science ®Google Scholar
• Fujino H, Ito E, Morishima T, et al. Clonal selection in xenografted TAM recapitulates the evolutionary process of myeloid leukemia in Down syndrome. Blood. 2013;121:4377–4387.
   PubMed Web of Science ®Google Scholar
• Khan I, Malinge S, Crispino J. Myeloid leukemia in Down syndrome. Crit Rev Oncog. 2011;16:25–36.
   PubMedGoogle Scholar
• Maloney KW, Taub JW, Ravindranath Y, et al. Down syndrome preleukemia and leukemia. Pediatr Clin North Am. 2015;62:121–137.
   PubMed Web of Science ®Google Scholar
• Girodon F, Favre B, Couillaud G, et al. Immunophenotype of a transient myeloproliferative disorder in a newborn with trisomy 21. Commun Clin Cytom. 2000;42:118–122.
   PubMedGoogle Scholar
• Bozner P. Transient myeloproliferative disorder with erythroid differentiation in Down syndrome. Arch Pathol Lab Med. 2002;126:474–477.
   PubMed Web of Science ®Google Scholar
• Bertrums EJM, Buijs A, van Grotel M, et al. A neonate with a unique non-Down syndrome transient proliferative megakaryoblastic disease. Pediatr Blood Cancer. 2017;64(3). DOI:10.1002/pbc.26230
   PubMed Web of Science ®Google Scholar
• Saida S. Predispositions to leukemia in Down syndrome and other hereditary disorders. Curr Treat Opt Oncol. 2017;18:1–13.
   PubMed Web of Science ®Google Scholar
• Hitzler JK, Cheung J, Li Y, et al. GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome. Blood. 2003;101:4301–4304.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Pelleri MC, Piovesan A, Caracausi M, et al. Integrated differential transcriptome maps of acute megakaryoblastic leukemia (AMKL) in children with or without Down syndrome (DS). BMC Med Genomics. 2014;7:63.
   PubMed Web of Science ®Google Scholar
• Boztug H, Schumich A, Pötschger U, et al. Blast cell deficiency of CD11a as a marker of acute megakaryoblastic leukemia and transient myeloproliferative disease in children with and without Down syndrome. Cytometry. 2013;84:370–378.
   PubMedGoogle Scholar
• Wang SA, Hasserjian RP. Acute erythroleukemias, acute megakaryoblastic leukemias, and reactive mimics: a guide to a number of perplexing entities. Am J Clin Pathol. 2015;144:44–60.
   PubMed Web of Science ®Google Scholar
• Haen S, Fasan A, Federmann B, et al. Transient abnormal myelopoiesis/acute megakaryoblastic leukemia diagnosed in the placenta of a stillborn Down syndrome fetus with targeted next-generation sequencing. Leukemia. 2014;29:232–233.
   PubMed Web of Science ®Google Scholar
• Heald B, Hilden JM, 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.
   PubMedGoogle Scholar
• Marwaha RK, Das R, Awasthi A, et al. Hematological disorders in Down syndrome: ten-year experience at a Tertiary Care Centre in North India. Pediatr Hematol Oncol. 2005;22:507–512.
   PubMed Web of Science ®Google Scholar
• Brink DS. Transient leukemia (transient myeloproliferative disorder, transient abnormal myelopoiesis) of Down syndrome. Adv Anat Pathol. 2006;13:256–262.
   PubMed Web of Science ®Google Scholar
• Doyle JJ, Al-Kasim F, Weinstein HJ, et al. Incidence and treatment of potentially lethal diseases in transient leukemia of Down syndrome: Pediatric Oncology Group Study. J Pediatr Hematol Oncol. 2003;24:9–13.
   Web of Science ®Google Scholar
• Hentschel R, Rasenack R, Niemeyer C, et al. Life-threatening complications of transient abnormal myelopoiesis in neonates with Down syndrome. Eur J Pediatr. 2005;164:335–335.
   Web of Science ®Google Scholar
• Roberts I, Izraeli S. Haematopoietic development and leukaemia in Down syndrome. Pediatr Hematol Immunopathol. 2015;14:13–33.
   Google Scholar
• Roberts I, Fordham NJ, Rao A, et al. Neonatal leukaemia. Br J Haematol. 2018;182:170–184.
   PubMed Web of Science ®Google Scholar
• Mundschau G, Gurbuxani S, Gamis AS, et al. Mutagenesis of GATA1 is an initiating event in Down syndrome leukemogenesis. Blood. 2003;101:4298–4300.
   PubMed Web of Science ®Google Scholar
• Cantor AB, Orkin SH. Transcriptional regulation of erythropoiesis: an affair involving multiple partners. Oncogene. 2002;21:3368–3376.
   PubMed Web of Science ®Google Scholar
• Morceau F, Schnekenburger M, Dicato M, et al. GATA-1: friends, brothers, and coworkers. Ann N Y Acad Sci. 2004;1030:537–554.
   PubMed Web of Science ®Google Scholar
• White JG, Maris JM, Crispino JD, et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet. 2002;24:266–270.
   Web of Science ®Google Scholar
• Orkin SH. Diversification of haematopoietic stem cells to specific lineages. Nat Rev Genet. 2000;1:57–64.
   PubMed Web of Science ®Google Scholar
• Lee WY, Weinberg OK, Evans AG, et al. Loss of full-length GATA1 expression in megakaryocytes is a sensitive and specific immunohistochemical marker for the diagnosis of myeloid proliferative disorder related to Down syndrome. Am J Clin Pathol. 2018;149:300–309.
   PubMed Web of Science ®Google Scholar
• Gilles L, Arslan AD, Marinaccio C, et al. Downregulation of GATA1 drives impaired hematopoiesis in primary myelofibrosis. J Clin Invest. 2017;127:1316–1320.
   PubMed Web of Science ®Google Scholar
• Toki T, Kanezaki R, Kobayashi E, et al. Naturally occurring oncogenic GATA1 mutants with internal deletions in transient abnormal myelopoiesis in Down syndrome. Blood. 2013;121:3181–3184.
   PubMed Web of Science ®Google Scholar
• Schmidt E, Fischer U, Biskup W, et al. Smoldering development of acute megakaryoblastic leukemia with clonal evolution in an infant without Down syndrome. Klin Padiatr. 2017;229:352–354.
   PubMed Web of Science ®Google Scholar
• Kanegane H, Watanabe S, Nomura K, et al. Distinct clones are associated with the development of transient myeloproliferative disorder and acute megakaryocytic leukemia in a patient with Down syndrome. Int J Hematol. 2007;86:250–252.
   PubMed Web of Science ®Google Scholar
• Wechsler J, Greene M, McDevitt MA, et al. Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nat Genet. 2002;32:148–152.
   PubMed Web of Science ®Google Scholar
• Roy A, Roberts I, Norton A, et al. 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.
   PubMed Web of Science ®Google Scholar
• Adams M, Fish R, Jasani B, et al. CA125 in ovarian tumour tissue at second laparotomy. Br J Cancer. 1989;59:259–260.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Lee WY, Weinberg OK, Pinkus GS. GATA1 Is a sensitive and specific nuclear marker for erythroid and megakaryocytic lineages. Am J Clin Pathol. 2017;147:420–426.
   PubMed Web of Science ®Google Scholar
• Katsumura KR, Ong IM, DeVilbiss AW, et al. GATA factor-dependent positive-feedback circuit in acute myeloid leukemia cells. Cell Rep. 2016;16:2428–2441.
   PubMed Web of Science ®Google Scholar
• Ciovacco WA, Raskind WH, Kacena MA. Human phenotypes associated with GATA-1 mutations. Gene. 2008;427:1–6.
   PubMed Web of Science ®Google Scholar
• Salvatori G, Foligno S, Sirleto P, et al. Sometimes it is better to wait: first Italian case of a newborn with transient abnormal myelopoiesis and a favorable prognosis. Oncol Lett. 2017;13:191–195.
   PubMed Web of Science ®Google Scholar
• Greene ME, Mundschau G, Wechsler J, et al. Mutations in GATA1 in both transient myeloproliferative disorder and acute megakaryoblastic leukemia of Down syndrome. Blood Cells Mol Dis. 2003;31:351–356.
   PubMed Web of Science ®Google Scholar
• Canzonetta C, Groet J, Fisher EMC, et al. Trisomic dose of several chromosome 21 genes perturbs haematopoietic stem and progenitor cell differentiation in Down’s syndrome. Oncogene. 2010;29:6102–6114.
   PubMed Web of Science ®Google Scholar
• Olme CH, Brown N, Finnon R, et al. Frequency of acute myeloid leukaemia-associated mouse chromosome 2 deletions in X-ray exposed immature haematopoietic progenitors and stem cells. Mutat Res Genet Toxicol Environ Mutagen. 2013;756:119–126.
   PubMed Web of Science ®Google Scholar
• Roberts I, O'Connor D, Roy A, et al. The impact of trisomy 21 on foetal haematopoiesis. Blood Cells Mol Dis. 2013;51:277–281.
   PubMed Web of Science ®Google Scholar
• Pine SR, Guo Q, Yin C, et al. Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome. Blood. 2007;110:2128–2131.
   PubMed Web of Science ®Google Scholar
• Maroz A, Stachorski L, Emmrich S, et al. GATA1s induces hyperproliferation of eosinophil precursors in Down syndrome transient leukemia. Leukemia. 2014;28:1259–1270.
   PubMed Web of Science ®Google Scholar
• Sato-Otsubo A, Muramatsu H, Izraeli S, et al. The landscape of somatic mutations in Down syndrome-related myeloid disorders. Nat Genet. 2013;45:1293–1299.
   PubMed Web of Science ®Google Scholar
• Kojima S, Hayashi Y, Naoe T, et al. Comprehensive analysis of gene alterations in acute megakaryoblastic leukemia of Down’s syndrome. Leukemia. 2003;17:2250–2252.
   PubMed Web of Science ®Google Scholar
• Kudo K, Kamio T, Hanada I, et al. Gene alterations involving the CRLF2-JAK pathway and recurrent gene deletions in Down syndrome-associated acute lymphoblastic leukemia in Japan. Genes Chromosomes Cancer. 2014;53:902–910.
   PubMed Web of Science ®Google Scholar
• Dastugue N, Lafage-Pochitaloff M, Pagès M-P, et al. Cytogenetic profile of childhood and adult megakaryoblastic leukemia (M7): a study of the Groupe Français de Cytogénétique Hématologique (GFCH). Blood. 2002;100:618–626.
   PubMed Web of Science ®Google Scholar
• Deguchi K, Gilliland DG. Cooperativity between mutations in tyrosine kinases and in hematopoietic transcription factors in AML. Leukemia. 2002;16:740–744.
   PubMed Web of Science ®Google Scholar
• Okuda T, Van Deursen J, Hiebert SW, et al. AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis. Cell. 1996;84:321–330.
   PubMed Web of Science ®Google Scholar
• Peterson LF, Zhang DE. The 8;21 translocation in leukemogenesis. Oncogene. 2004;23:4255–4262.
   PubMed Web of Science ®Google Scholar
• Khoury JD, Garcia-Manero G, Luthra R, et al. Bone marrow pathologic abnormalities in familial platelet disorder with propensity for myeloid malignancy and germline RUNX1 mutation. Haematologica. 2017;102:1661–1670.
   PubMed Web of Science ®Google Scholar
• Kamikubo Y. Genetic compensation of RUNX family transcription factors in leukemia. Cancer Sci. 2018;109:2358–2363.
   PubMed Web of Science ®Google Scholar
• Elagib KE, Racke FK, Mogass M, et al. RUNX1 and GATA-1 coexpression and cooperation in megakaryocytic differentiation. Blood. 2003;101:4333–4341.
   PubMed Web of Science ®Google Scholar
• Canzonetta C, Hoischen A, Giarin E, et al. Amplified segment in the “Down Syndrome critical region” on HSA21 shared between Down syndrome and euploid AML-M0 excludes RUNX1, ERG and ETS2. Br J Haematol. 2012;157:197–200.
   PubMed Web of Science ®Google Scholar
• Stankiewicz MJ, Crispino JD. ETS2 and ERG promote megakaryopoiesis and synergize with alterations in GATA-1 to immortalize hematopoietic progenitor cells. Blood. 2009;113:3337–3347.
   PubMed Web of Science ®Google Scholar
• Ito E, Izraeli S, Pimanda JE, et al. The proto-oncogene ERG in megakaryoblastic leukemias. Cancer Res. 2005;65:7596–7602.
   PubMed Web of Science ®Google Scholar
• Walters DK, Mercher T, Gu TL, et al. Activating alleles of JAK3 in acute megakaryoblastic leukemia. Cancer Cell. 2006;10:65–75.
   Google Scholar
• Kiyoi H, Yamaji S, Kojima S, et al. JAK3 mutations occur in acute megakaryoblastic leukemia both in Down syndrome children and non-Down syndrome adults. Leukemia. 2007;21:574–576.
   PubMed Web of Science ®Google Scholar
• Moore SA, Wong MJ, Goss VL, et al. Activating alleles of JAK3 in acute megakaryoblastic leukemia. Cancer Cell. 2006;10:65–75.
   PubMed Web of Science ®Google Scholar
• Sato T, Toki T, Kanezaki R, et al. Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome. Br J Haematol. 2008;141:681–688.
   PubMed Web of Science ®Google Scholar
• Hosoya R, Manabe A, Yoshida K, et al. Acute megakaryoblastic leukemia with acquired trisomy 21 and GATA1 mutations in phenotypically normal children. Eur J Pediatr. 2014;174:525–531.
   PubMed Web of Science ®Google Scholar
• Rabson AB. Trisomy 21 leukemias: finding the hits that matter. Oncogene. 2010;29:6099–6101.
   PubMed Web of Science ®Google Scholar
• Mulligan C, Groet J, Basso G, et al. Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome. Br J Haematol. 2007;137:337–341.
   PubMed Web of Science ®Google Scholar
• Williams O, Izraeli S, de Boer J, et al. ERG is a megakaryocytic oncogene. Cancer Res. 2009;69:4665–4673.
   PubMed Web of Science ®Google Scholar
• Ng AP, Hyland CD, Metcalf D, et al. Trisomy of Erg is required for myeloproliferation in a mouse model of Down syndrome. Blood. 2010;115:3966–3969.
   PubMed Web of Science ®Google Scholar
• Hama A, Yagasaki H, Takahashi Y, et al. Acute megakaryoblastic leukaemia (AMKL) in children: a comparison of AMKL with and without Down syndrome. Br J Haematol. 2008;140:552–561.
   PubMed Web of Science ®Google Scholar
• Holt SE, Brown EJ, Zipursky A. Telomerase and the benign and malignant megakaryoblastic leukemias of Down syndrome. J Pediatr Hematol Oncol. 2002;24:14–17.
   PubMed Web of Science ®Google Scholar
• Ge Y, Chen Q, van Remmen H, et al. Mutational spectrum at GATA1 provides insights into mutagenesis and leukemogenesis in Down syndrome. Blood. 2009;114:2753–2763.
   PubMed Web of Science ®Google Scholar
• Alexandrov PN, Percy ME, Lukiw WJ. Chromosome 21-encoded microRNAs (mRNAs): impact on Down's syndrome and trisomy-21 linked disease. Cell Mol Neurobiol. 2018;38:769–774.
   PubMed Web of Science ®Google Scholar
• Cheah P-S, Tan K-L, Babaei MA, et al. MicroRNAs and intellectual disability (ID) in Down syndrome, X-linked ID, and fragile X syndrome. Front Cell Neurosci. 2013;7:41.
   PubMed Web of Science ®Google Scholar
• Klusmann JH, Creutzig U, Zimmermann M, et al. Treatment and prognostic impact of transient leukemia in neonates with Down syndrome. Blood. 2008;111:2991–2998.
   PubMed Web of Science ®Google Scholar
• Shaham L, Vendramini E, Ge Y, et al. MicroRNA-486-5p is an erythroid oncomiR of the myeloid leukemias of Down syndrome. Blood. 2015;125:1292–1301.
   PubMed Web of Science ®Google Scholar
• Grimes HL, Meyer SE. A 2-way mirRor of red blood cells and leukemia. Blood. 2015;125:1202–1203.
   PubMed Web of Science ®Google Scholar
• Sailani MR, Santoni FA, Letourneau A, et al. DNA-methylation patterns in trisomy 21 using cells from monozygotic twins. PLoS One. 2015;10:e0135555.
   PubMed Web of Science ®Google Scholar
• Zhang Y, Rohde C, Tieriing S, et al. DNA methylation analysis of chromosome 21 gene promoters at single base pair and single allele resolution. PLoS Genet. 2009;5:e1000438.
   PubMed Web of Science ®Google Scholar
• Grewal R, Cucuianu A, Swanepoel C, et al. The role of microRNAs in the pathogenesis of HIV-related lymphomas. Crit Rev Clin Lab Sci. 2015;52:232–241.
   PubMed Web of Science ®Google Scholar
• Jurj A, Pop L, Petrushev B, et al. Exosome-carried microRNA-based signature as a cellular trigger for the evolution of chronic lymphocytic leukemia into Richter syndrome. Crit Rev Clin Lab Sci. 2018;55:501–515.
   PubMed Web of Science ®Google Scholar
• Herault Y, Robyr D, Stamatoyannopoulos JA, et al. Domains of genome-wide gene expression dysregulation in Down's syndrome. Nature. 2014;508:345–350.
   PubMed Web of Science ®Google Scholar
• Chlon T, Dor LC, Ketterling RP, et al. Development of acute megakaryoblastic leukemia in Down syndrome is associated with sequential epigenetic changes. Blood. 2013;122:33–43.
   Web of Science ®Google Scholar
• Becktell K, Houser K, Burke MJ. Epigenetic therapy in a patient with Down syndrome and refractory acute myeloid leukemia. J Pediatr Hematol Oncol. 2019;41:E38–E40.
   PubMed Web of Science ®Google Scholar
• Simon L, Blotman F, Lagier C, et al. Aspects of the crossed thoracobrachial syndrome as seen in rheumatology. Rev Rhum Mal Osteoartic. 1978;45:269–274.
   PubMedGoogle Scholar
• Taga T, Tomizawa D, Takahashi H, et al. Acute myeloid leukemia in children: current status and future directions. Pediatr Int. 2016;58:71–80.
   PubMed Web of Science ®Google Scholar
• Oskarsson T, Söderhäll S, Arvidson J, et al. Relapsed childhood acute lymphoblastic leukemia in the Nordic countries: prognostic factors, treatment and outcome. Haematologica. 2016;101:68–76.
   PubMed Web of Science ®Google Scholar
• Timothy Caldwell J, Ge Y, Taub JW. Prognosis and management of acute myeloid leukemia in patients with Down syndrome. Expert Rev Hematol. 2014;7:831–840.
   PubMed Web of Science ®Google Scholar
• Roy A, Roberts I, Vyas P. Biology and management of transient abnormal myelopoiesis (TAM) in children with Down syndrome. Semin Fetal Neonatal Med. 2012;17:196–201.
   PubMed Web of Science ®Google Scholar
• Moassass F, Wafa A, Liehr T, et al. Down syndrome associated childhood myeloid leukemia with yet unreported acquired chromosomal abnormalities and a new potential adverse marker: Dup(1)(q25q44). Mol Cytogenet. 2018;11:22.
   PubMed Web of Science ®Google Scholar
• Taub JW, Berman JN, Hitzler JK, et al. Improved outcomes for myeloid leukemia of Down syndrome: a report from the Children's Oncology Group AAML0431 trial. Blood. 2017;129:3304–3313.
   PubMed Web of Science ®Google Scholar
• Xavier AC, Ge Y, Taub JW. Down syndrome and malignancies: a unique clinical relationship – a paper from the 2008 William Beaumont Hospital symposium on molecular pathology. J Mol Diagn. 2009;11:371–380.
   PubMed Web of Science ®Google Scholar
• Linabery AM, Li W, Roesler MA, et al. Immune-related conditions and acute leukemia in children with Down syndrome: a children’s oncology group report. Cancer Epidemiol Biomarkers Prev. 2015;24:454–458.
   PubMed Web of Science ®Google Scholar
• Zwaan CM, Reinhardt D, Hitzler J, et al. Acute leukemias in children with Down syndrome. Pediatr Clin North Am. 2008;55:53–70.
   PubMed Web of Science ®Google Scholar
• Sorrell AD, Alonzo TA, Hilden JM, et al. Favorable survival maintained in children who have myeloid leukemia associated with Down syndrome using reduced-dose chemotherapy on Children’s Oncology Group trial A2971: a report from the Children’s Oncology Group. Cancer. 2012;118:4806–4814.
   PubMed Web of Science ®Google Scholar
• Linabery AM, Blair CK, Gamis AS, et al. Congenital abnormalities and acute leukemia among children with Down syndrome: a children’s oncology group study. Cancer Epidemiol Biomarkers Prev. 2008;17:2572–2577.
   PubMed Web of Science ®Google Scholar
• Sung L, Aplenc R, Alonzo TA, et al. Effectiveness of supportive care measures to reduce infections in pediatric AML: a report from the Children's Oncology Group. Blood. 2013;121:3573–3577.
   PubMed Web of Science ®Google Scholar
• Gamis AS. Acute myeloid leukemia and Down syndrome evolution of modern therapy-state of the art review. Pediatr Blood Cancer. 2005;44:13–20.
   PubMed Web of Science ®Google Scholar
• Goldsby RE, Stratton KL, Raber S, et al. Long-term sequelae in survivors of childhood leukemia with Down syndrome: a childhood cancer survivor study report. Cancer. 2018;124:617–625.
   PubMed Web of Science ®Google Scholar
• Uffmann M, Rasche M, Zimmermann M, et al. Therapy reduction in patients with Down syndrome and myeloid leukemia: the international ML-DS 2006 trial. Blood. 2017;129:3314–3321.
   PubMed Web of Science ®Google Scholar
• Hefti E, Blanco JG. Pharmacokinetics of chemotherapeutic drugs in pediatric patients with Down syndrome and leukemia. J Pediatr Hematol Oncol. 2016;38:283–287.
   PubMed Web of Science ®Google Scholar
• Li MJ, Lee NC, Yang YL, et al. Long-term outcome for Down syndrome patients with hematopoietic disorders. J Formos Med Assoc. 2016;115:94–99.
   PubMed Web of Science ®Google Scholar
• Schweitzer J, Zimmermann M, Rasche M, et al. Improved outcome of pediatric patients with acute megakaryoblastic leukemia in the AML-BFM 04 trial. Ann Hematol. 2015;94:1327–1336.
   PubMed Web of Science ®Google Scholar
• Abildgaard L, Ellebaek E, Gustafsson G, et al. Optimal treatment intensity in children with Down syndrome and myeloid leukaemia: data from 56 children treated on NOPHO-AML protocols and a review of the literature. Ann Hematol. 2006;85:275–280.
   PubMed Web of Science ®Google Scholar
• Muramatsu H, Sakaguchi H, Taga T, et al. Reduced intensity conditioning in allogeneic stem cell transplantation for AML with Down syndrome. Pediatr Blood Cancer. 2014;61:925–927.
   PubMed Web of Science ®Google Scholar
• Hitzler JK, He W, Doyle J, et al. Outcome of transplantation for acute myelogenous leukemia in children with Down syndrome. Biol Blood Marrow Transplant. 2013;19:893–897.
   PubMed Web of Science ®Google Scholar
• Ge Y, Dombkowski AA, LaFiura KM, et al. Differential gene expression, GATA1 target genes, and the chemotherapy sensitivity of Down syndrome megakaryocytic leukemia. Blood. 2006;107:1570–1581.
   PubMed Web of Science ®Google Scholar
• Moritake H, Yamada A, Kimoto Y, et al. Acute megakaryoblastic leukemia and severe pulmonary fibrosis in a child with Down syndrome: successful treatment with ultra low-dose cytarabine using GATA1 mutation to monitor minimal residual disease. Am J Hematol. 2012;87:447–450.
   PubMed Web of Science ®Google Scholar
• Tomuleasa C, Selicean C, Cismas S, et al. Minimal residual disease in chronic lymphocytic leukemia: a consensus paper that presents the clinical impact of the presently available laboratory approaches. Crit Rev Clin Lab Sci. 2018;55:329–345.
   PubMed Web of Science ®Google Scholar
• Al-Ahmari A, Shah N, Sung L, et al. Long-term results of an ultra low-dose cytarabine-based regimen for the treatment of acute megakaryoblastic leukaemia in children with Down syndrome. Br J Haematol. 2006;133:646–648.
   PubMed Web of Science ®Google Scholar
• Răchişan AL, Hruşcă A, Gheban D, et al. Granulomatous cheilitis of Miescher: the diagnostic proof for a Melkersson-Rosenthal syndrome. Rom J Morphol Embryol. 2012;53:851–853.
   PubMed Web of Science ®Google Scholar
• Hrusca A, Rachisan AL, Gach P, et al. Detection of pulmonary and coronary artery anomalies in tetralogy of Fallot using non-ECG-gated CT angiography. Diagn Interv Imaging. 2016;97:543–548.
   PubMed Web of Science ®Google Scholar
• Căinap S, Răchişan A, Fetică B, et al. EBV in pediatric neoplasia—intensity of infection as independent prognostic factor. J Med Life. 2012;5:283–287.
   PubMedGoogle Scholar
• Flasinski M, Scheibke K, Zimmermann M, et al. Low-dose cytarabine to prevent myeloid leukemia in children with Down syndrome: TMD Prevention 2007 study. Blood Adv. 2018;2:1532–1540.
   PubMed Web of Science ®Google Scholar