Transient myeloproliferative disordes in a newborns with Down Syndrome

Year 2013, Volume: 2 Issue: 1, 46 - 49, 01.01.2013

Fatih Demircioğlu Hüseyin Altunhan Mervan Bekdaş Sevil Bilir Göksügür Erkan Yeşiller Esma Gökçen Saraç Erol Kısmet

https://doi.org/10.5505/abantmedj.2013.97268

Abstract

Transient myeloproliferative disease TMD , defined by circulating nonlymphoid blast in the peripheral blood, occurs in approximately 10% of infants with constitutional trisomy 21 Down syndrome . The TMD phenotype may also occur in newborns who do not have clinical signs of Down syndrome but nonconstitutional trisomy 21 due to mosaicism. Acute mega-karyoblastic leukemia AML-M7 develops in approxima¬tely 30 % of the cases with TMD within the first three years of life. In this case report, a newborn with TMD with Down syndrome is presented. We emphasize the importance of the peripheral blood smear examination in newborns with DS, especially with hepatosplenomegaly, leukocytosis or throm¬bocytopenia and myeloblast of the peripheral smear, in order to diagnose TMD.

Keywords

Down Syndrome, newborn, transient myeloproliferative disease

Down Sendromlu bir yenidoğanda geçici myeloproliferatif hastalık

Abstract

Geçici myeloproliferatif hastalık GMPH , Trizomi 21 Down Sendromu tanısı ile izlenen infantların yaklaşık %10’unda ortaya çıkabilen, periferik kanda myeloid blastların artımı ile karakterize bir durumdur. GMPH, Down Sendromun’nun işaretlerini taşımayan mozaik trizomi 21 hastalarında da görülebilir. GMPH’lı infantlarda ilk 3 yılda akut mega¬karyoblastik lösemi AML-M7 gelişme riski yaklaşık % 30’dur. Biz burada GMPH gelişen Down Sendromlu bir vaka sunduk. Down sendromlu yenidoğanlarda hepasopslenomegali, lökositoz veya trombositopeni ve periferik kan yayma incelemeside myeloblast saptanması durumunda GMPH düşünülmesinin önemine vurgu yapmak istedik

Keywords

Down sendromu, yenidoğan, geçici myeloproliferatif hastalık

References

• Roy A, Roberts I, Vyas P. Biology and manage- ment of transient abnormal myelopoiesis (TAM) in children with Down syndrome. Semin Fetal Neonatal Med. 2012;17:196-201.
• Klusmann JH, Creutzig U, Zimmermann M, Dworzak M, Jorch N, Langebrake C, Pekrun A, Macakova-Reinhardt K, Reinhardt D. Treatment and prognostic impact of transient leukemia in neonates with Down syndrome. Blood. 2008 ;111:2991- 8.
• Massey GV, Zipursky A, Chang MN, Doyle JJ, Na- sim S, Taub JW, Ravindranath Y, Dahl G, Weins- tein HJ; A prospective study of the natural his- tory of transient leukemia (TL) in neonates with Down syndrome (DS): children’s Oncology Group (COG) study POG-9481. Blood 2006;107: 4606-13.
• GH Judih: Chromosomal Clinical Abnormalities, In: Richar E. Behrman, Robert M. Kliegman, Hall B. Jenson (Eds), Nelson Textbook of Pediatrics. 17th edition. Saunders an Imprint of Elsevier Science, USA, 2004: 382-91.
• Bessler M, Mason JP,Link DC, Wilson DB: Inheri- ted Bone Marrow Syndromes, In: Stuart H. Or- kin, David G. Nathan, David Ginsburg, A. Tho- mas Look, David E. Fisher, Samuel E. Lux (Eds), Nathan and Oski’s Hematology of Infancy and Childhood. 7th edition. Saunders an Imprint of Elsevier Science, USA,2009: 307-95.
• Lange B. The management of neoplastic disor- ders of haematopoiesis in children with Down’s syndrome. Br J Haematol. 2000;110(3):512- 524.
• Hasle H, Clemmensen IH, Mikkelsen M. Risks of leukaemia and solid tumours in individuals with Down’s syndrome. Lancet. 2000;355:165-69.
• Gamis AS, Alonzo TA, Gerbing RB, Hilden JM, Sorrell AD, Sharma M, Loew TW, Arceci RJ, Bar- nard D, Doyle J, Massey G, Perentesis J, Ravind- ranath Y, Taub J, Smith FO. Natural history of transient myeloproliferative disorder clinically diagnosed in Down syndrome neonates: a re- port from the Children’s Oncology Group Study A2971. Blood 2011;118:6752-9.
• Smrcek JM, Baschat AA, Germer U, Gloeckner- Hofmann K, Embruch U. Fetal hydrops and he- patosplenomegaly in the second half of preg- nancy: a sign of myeloproliferative disorder in fetuses with trisomy 21. Ultrasound Obstet Gy- necol 2001;17:403-9.
• Groet J, McElwaine S, Spinelli M, Rinaldi A, Burtscher I, Mulligan C, Mensah A, Cavani S, Dagna-Bricarelli F, Basso G, Cotter FE, Nizetic D. Acquired mutations in GATA1 in neonates with Down’s syndrome with transient myeloid disor- der. Lancet 2003;361:1617-20.
• Rainis L, Bercovich D, Strehl S, Teigler-Schlegel A, Stark B, Trka J, Amariglio N, Biondi A, Muler I, Rechavi G, Kempski H, Haas OA, Izraeli S. Muta- tions in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21. Blood 2003;102:981-86.
• Xu G, Nagano M, Kanezaki R, Toki T, Hayashi Y, Taketani T, Taki T, Mitui T, Koike K, Kato K, Imai- zumi M, Sekine I, Ikeda Y, Hanada R, Sako M, Kudo K, Kojima S, Ohneda O, Yamamoto M, Ito E. Frequent mutations in the GATA-1 gene in the transient myeloproliferative disorder of Down syndrome. Blood 2003;102:2960-68.
• Cabelof DC, Patel HV, Chen Q, van Remmen H, Matherly LH, Ge Y, Taub JW. Mutational spect- rum at GATA1 provides insights into mutagene- sis and leukemogenesis in Down syndrome. Blood 2009;114:2753-63.
• Pine SR, Guo Q, Yin C, Jayabose S, Levendoglu- Tugal O, Ozkaynak MF, Sandoval C. GATA1 as a new target to detect minimal residual disease in both transient leukemia and megakaryoblastic leukemia of Down syndrome. Leuk Res 2005;29: 1353-56.
• Alford KA, Reinhardt K, Garnett C, Norton A, Böhmer K, von Neuhoff C, Kolenova A, Marchi E, Klusmann JH, Roberts I, Hasle H, Reinhardt D, Vyas P; International Myeloid Leukemia-Down Syndrome Study Group. Analysis of GATA1 mu- tations in Down syndrome transient myeloproli- ferative disorder and myeloid leukemia. Blood 2011;118:2222-38.