Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update
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Hasle H, Clemmensen IH, Mikkelsen M. Risks of leukaemia and solid tumours in individuals with Down’s syndrome. Lancet. 2000;355:165–9.
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;118:1769–72.
Malinge S, Izraeli S, Crispino JD. Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome. Blood. 2009;113:2619–28.
Roberts I, Izraeli S. Haematopoietic development and leukaemia in Down syndrome. Br J Haematol Epub Aug. 2014;22:2014.
Wechsler J, Greene M, McDevitt M, Anastasi J, Karp J, Le Beau M, et al. Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nat Genet. 2002;32:148–52.
Rainis L, Bercovich D, Strehl S, Teigler-Schlegel A, Stark B, Trka J, et al. Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21. Blood. 2003;102:981–6.
Hitzler JK, Cheung J, Li Y, Scherer SW, Zipursky A. GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome. Blood. 2003;101:4301–4.
Groet J, McElwaine S, Spinelli M, Rinaldi A, Burtscher I, Mulligan C, et al. Acquired mutations in GATA1 in neonates with Down’s syndrome with transient myeloid disorder. Lancet. 2003;361:1617–20.
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;103:2480–9.
Alford K, Reinhardt K, Garnett C, Norton A, Bohmer K, von Neuhoff C, et al. Blood. 2011;118:2222–38.
Roberts I, Alford K, Hall G, Juban G, Richmond H, Norton A, 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;122:3908–17. This paper reports interim analysis from the prospective multi-centre Oxford Imperial Down syndrome cohort study which showed the high frequency of acquired GATA1 mutations in neonates with Down syndrome and described Silent TAM for the first time.
Yoshida K, Toki T, Okuno Y, Kanezaki R, Shiraishi Y, Sato-Otsubo A, et al. The landscape of somatic mutations in Down syndrome-related myeloid disorders. Nat Genet. 2013;45:1293–9. This paper provides the first comprehensive analysis of the molecular landscapte of ML-DS and TAM.
Nikolaev S, Santoni F, Vannier A, Falconnet E, Giarin E, Basso G, et al. Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome. Blood. 2013;122:554–61.
Tunstall-Pedoe O, Roy A, Karadimitris A, de la Fuente J, Fisk N, Bennett P, et al. Abnormalities in the myeloid progenitor compartment in Down syndrome fetal liver precede acquisition of GATA1 mutations. Blood. 2008;112:4507–11.
Roy A, Cowan G, Mead AJ, Filippi S, Bohn G, Chaidos A, et al. Perturbation of fetal liver hematopoietic stem and progenitor cell development by trisomy 21. Proc Natl Acad Sci U S A. 2012;109:17579–84. This paper provides the first description of global perturbation of fetal haematopoiesis by trisomy 21 at haematopoietic stem and progenitor cell level.
Kirsammer G, Jilani S, Liu H, Davis E, Gurbuxani S, Le Beau MM, et al. Highly penetrant myeloproliferative disease in the Ts65Dn mouse model of Down syndrome. Blood. 2008;111:767–75.
Carmichael CL, Majewski IJ, Alexander WS, Metcalf D, Hilton DJ, Hewitt CA, et al. Hematopoietic defects in the Ts1Cje mouse model of Down syndrome. Blood. 2009;113:1929–37.
Alford KA, Slender A, Vanes L, Li Z, Fisher EM, Nizetic D, et al. Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome. Blood. 2010;115:2928–37.
Malinge S, Bliss-Moreau M, Kirsammer G, Diebold L, Chlon T, Gurbuxani S, et al. Increased dosage of the chromosome 21 ortholog Dyrk1a promotes megakaryoblastic leukemia in a murine model of Down syndrome. J Clin Invest. 2012;122:948–62.
Birger Y, Goldberg L, Chlon T, Goldenson B, Muler I, Schiby I, et al. Perturbation of fetal hematopoiesis in a mouse model of Down syndrome’s transient myeloproliferative disorder. Blood. 2013;122:988–98.
Chou S, Byrska-Bishop M, Tober J, Yao Y, VanDorn D, Opalinska J, et al. Trisomy 21-associated defects in human primitive hematopoiesis revealed through induced pluripotent stem cells. Proc Natl Acad Sci U S A. 2012;109:17573–8.
MacLean G, Menne T, Guo G, Sanchez D, Park I, Daley G, et al. Altered hematopoiesis in trisomy 21 as revealed through in vitro differentiation of isogenic human pluripotent cells. Proc Natl Acad Sci U S A. 2012;109:17567–72.
Liu B, Filippi S, Roy A, Roberts I. Stem and progenitor cell dysfunction in human trisomies. EMBO Rep. 2015;16:44–62.
Muntean A, Ge Y, Taub J, Crispino J. Transcription factor GATA-1 and Down syndrome leukemogenesis. Leukemia & lymphoma. 2006;47:986–97.
Salek-Ardakani S, Smooha G, de Boer J, Seibre N, Morrow M, Rainis L, et al. ERG is a megakaryocytic oncogene. Cancer Res. 2009;69:4665–73.
Toki T, Kanezaki R, Kobayashi E, Kaneko H, Suzuki M, Wang R, et al. Naturally occurring oncogenic GATA1 mutants with internal deletions in transient abnormal myelopoiesis in Down syndrome. Blood. 2013;121:3181–4.
Banno K, Omori S, Hirata N, Nakagawa K, Nishimura M, Ohtaka M, et al. Systematic cellular disease models reveal synergistic interaction of trisomy 21 and GATA1 mutations in hematopoietic abnormalities. Cell Rep. 2016;15:1228–41.
Caye A, Strullu M, Guidez F, Cassinat B, Gazal S, Fenneteau O, et al. Juvenile myelomonocytic leukaemia displays mutations in components of the RAS pathway and the PRC2 network. Nat Genet. 2015;47:1334–40.
Klusmann J-H, Godinho F, Heitmann K, Maroz A, Koch M, Reinhardt D, et al. Developmental stage-specific interplay of GATA1 and IGF signaling in fetal megakaryopoiesis and leukemogenesis. Genes Dev. 2010;24:1659–72.
Massey GV, Zipursky A, Chang M, Doyle J, et al. A prospective study of the natural history of transient leukemia in neonates with Down syndrome: Children’s Oncology Group study POG-9481. Blood. 2006;107:4606–13.
Klusmann J-H, Creutzig U, Zimmermann M, Dworzak M, et al. Treatment and prognostic impact of transient leukemia in neonates with Down syndrome. Blood. 2008;111:2991–8.
Muramatsu H, Kato K, Watanabe N, Matsumoto K, et al. Risk factors for early death in neonates with Down syndrome and transient leukaemia. Br J Haematol. 2008;142:610–5.
Gamis AS, Alonzo T, Gerbing R, Hilden J, 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;118:6752–9. This paper describes a large prospective study (COG Study A2971) of clinically-diagnosed TAM with a particular emphasis on the frequency and significance of life-thtreatening symptoms.
Tamblyn J, Norton A, Spurgeon L, Donovan V, Bedford Russell A, Bonnici J, et al. Prenatal therapy in transient abnormal myelopoiesis: a systematic review. Arch Dis Child Fetal Neonatal Ed. 2016;101:67–71. This paper is the first comprehensive review of the clinical features, haematological features and outcome of TAM presenting in utero.
Karandikar NJ, Aquino DB, McKenna RW, Kroft SH. Transient myeloproliferative disorder and acute myeloid leukemia in Down syndrome. An immunophenotypic analysis. Am J Clin Pathol. 2001;116:204–10.
Giordon F, Favre B, Couillaud G, et al. Immunophenotype of a transient myeloproliferative disorder in a newborn with trisomy 21. Cytometry. 2000;42:118–22.
Langerbrake 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;217:126–34.
Boztug H, Schumich A, Potschger U, Muhlegger N, Kolenova A, Reinhardt K, et al. Blast cell deficiency of CD11a as a marker of acute megakaryoblastic leukaemia and transient myeloproliferative disease in children with and without Down syndrome. Cytometry B Clin Cytom. 2013;84:370–8.
Park M, Sotomatsu M, Ohki K, Arai K, Maruyama K, Kobayashi T, et al. Liver disease is frequently observed in Down syndrome patients with transient abnormal myelopoiesis. Int J Hematol. 2014;99:154–61.
Zwaan C, Kaspers G, Pieters R, Hahlen K, Janka-Schaub G, van Zantwijk C, et al. Different drug sensitivity profiles of acute myeloid and lymphoblastic leukemia and normal peripheral blood mononuclear cells in children with and without Down syndrome. Blood. 2002;99:245–51.
Al-Kasim F, Doyle J, Massey G, Weinstein H, Zipursky A. Incidence and treatment of potentially lethal diseases in transient leukemia of Down syndrome: Pediatric Oncology Group Study. J Pediatr Hematol Oncol. 2002;24:9–13.
Hasle H, Niemeyer CM, Chessells JM, Baumann I, et al. A pediatric approach to the WHO classification of myelodysplastic and myeloproliferative diseases. Leukemia. 2003;17:277–82.
Creutzig U, Zimmermann M, Ritter J, Reinhardt D, Hermann J, Henze G, et al. Treatment strategies and long-term results in paediatric patients treated in four consecutive AML-BFM trials. Leukaemia. 2005;19:2030–42.
Hasle H, Abrahamsson J, Arola M, Karow A, et al. Myeloid leukemia in children 4 years or older with Down syndrome often lacks GATA1 mutation and cytogenetics and risk of relapse are more akin to sporadic AML. Leukemia. 2008;22:1428–30.
Rao A, Hills R, Stiller C, Gibson B, et al. Treatment for myeloid leukaemia of Down syndrome: population-based experience in the UK and results from the Medical Research Council AML 10 and AML 12 trials. Br J Haematol. 2006;132:576–83.
Webb D, Roberts I, Vyas P. Haematology of Down syndrome. Arch Dis Child Fetal Neonatal Ed. 2007;92:503–7.
Yumura-Yagi K, Hara J, Tawa A, Kawa-Ha K. Phenotypic characteristics of acute megakaryocytic leukemia and transient abnormal myelopoiesis. Leuk Lymphoma. 1994;13:393–400.
Kurkijan C, Patel S, Kamble R, Dunn S, Kern W, Kharfan-Dabaja M. Acute promyelocytic leukemia and constitutional trisomy 21. Cancer Genet Cytogenet. 2006;165:176–9.
Forestier E, Izraeli S, Beverloo B, Haas O, Pession A, Michalova K, et al. Cytogenetic features of acute lymphoblastic and myeloid leukemias in pediatric patients with Down syndrome: an iBFM-SG study. Blood. 2008;111:1575–83.
Ravindranath Y. Down syndrome and acute myeloid leukemia: The paradox of increased risk for leukemia and heightened sensitivity to chemotherapy. J Clin Oncol. 2003;21:3385–7.
Taga T, Saito A, Kudo K, Tomizawa D, Terui K, Moritake H, et al. Clinical characteristics and outcome of refractory/relapsed myeloid leukaemia in children with Down syndrome. Blood. 2012;120:1810–5.
Muramatsu H, Watanabe T, Hasegawa D, et al. Prospective Study of 168 Infants with Transient Abnormal Myelopoiesis with Down Syndrome: Japan Pediatric Leukemia/Lymphoma Study Group, TAM-10 Study (Abstract 1311; 57th Annual Meeting of the American Society of Hematology). 2015.
Hitzler J, He W, Doyle J, Cairo M, Camitta B, Chan KW, et al. Outcome of transplantation for acute myelogenous leukaemia in children with Down syndrome. Biology of Blood and Marrow Transplant. 2013;19:893–7.
Muramatsu H, Sakaguchi H, Taga T, Tabuchi K, Adachi S, Inoue M, et al. Reduced intensity conditioning in allogeneic stem cell transplantation for AML with Down syndrome. Pediatric Blood Cancer. 2014;61:925–7.
Taga T, Watanabe T, Tomizawa D, Kudo K, Terui K, Moritake H, et al. Preserved high probability of overall survival with significant reduction of chemotherapy for myeloid leukaemia in Down syndrome: a nationwide prospective study in Japan. Pediatric Blood and Cancer. 2016;63:248–54.
Creutzig U, Reinhardt D, Diekamp S, Dworzak M, Stary J, Zimmermann M. AML patients with Down syndrome have a high cure rate with AML-BFM therapy with reduced intensity. Leukemia. 2005;19:1355–60.