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Transient myelodysplastic syndrome in a newborn
https://doi.org/10.21508/1027-4065-2023-68-5-65-69
Abstract
The article presents a unique case of a transient myelodysplastic syndrome characteristic of children with trisomy 21. This condition has non-specific clinical manifestations and a specific hematological picture similar to those of acute leukemia. The uniqueness of transient myelodysplastic syndrome lies in the spontaneous resolution within a few weeks or months after birth and/or the development of acute myeloid leukemia after spontaneous regression in the first 4–5 years of life. A prerequisite for the development of myelodysplastic syndrome is the presence of a blast clone of trisomy of the 21st chromosome and a mutation in the GATA1 gene in the cells.
About the Authors
N. Kh. Gabitova
Kazan State Medical University
Russian Federation
Russian Federation
Kazan
I. N. Cherezova
Kazan State Medical University
Russian Federation
Russian Federation
Kazan
F. M. Kazakova
Children’s Republican Clinical Hospital
Russian Federation
Russian Federation
Kazan
I. V. Osipova
Children’s Republican Clinical Hospital
Russian Federation
Russian Federation
Kazan
References
1. Gruber T.A., Downing J.R. The biology of pediatric acute megakaryoblastic leukemia. Blood 2015; 126(8): 943–949. DOI: 10.1182/blood-2015–05–567859
2. Gamis A.S., Smith F.O. Transient myeloproliferative disorder in children with Down syndrome: clarity to this enigmatic disorder. Br J Haematol 2012; 159(3): 277–287. DOI: 10.1111/bjh.12041
3. Watanabe K. Recent advances in the understanding of transient abnormal myelopoiesis in Down syndrome. Pediatr Int 2019; 61(3): 222–229. DOI: 10.1111/ped.13776
4. Yamato G., Park M.J., Sotomatsu M., Kaburagi T., Maruyama K., Kobayashi T. et al. Clinical features of 35 Down syndrome patients with transient abnormal myelopoiesis at a single institution. Int J Hematol 2021; 113(5): 662–667. DOI: 10.1007/s12185–020–03066–7
5. Camargo R., de Castro Moreira Dos Santos A. Jr., Cândido Guido B., Lemos Mendanha Cavalcante L., Silva Dias A.C., Mendonça de Pontes R. et al. A sensitive and inexpensive high-resolution melting-based testing algorithm for diagnosis of transient abnormal myelopoiesis and myeloid leukemia of Down syndrome. Pediatr Blood Cancer 2022; 69(11): e29866. DOI: 10.1002/pbc.29866
6. 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(4): 196–201. DOI: 10.1016/j.siny.2012.02.010
7. Arber D.A., Orazi A., Hasserjian R., Thiele J., Borowitz M.J., Le Beau M.M. et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 2016; 127(20): 2391–2405. DOI: 10.1182/blood-2016–03–643544
8. Roberts I. Leukemogenesis in infants and young children with trisomy 21. Hematol Am Soc Hematol Educ Program 2022; 2022(1):1–8. DOI: 10.1182/hematology
9. Garnett C., Cruz Hernandez D., Vyas P. GATA1 and cooperating mutations in myeloid leukaemia of Down syndrome. IUBMB Life 2020; 72: 119–130. DOI: 10.1002/iub.2197
10. Reinhardt D., Reinhardt K., Neuhoff C., Sander A., Klusmann J.H., Pekrun A. et al. GATA1-Mutations-assoziierte Leukämien bei Kindern mit Trisomie 21-Mosaik [GATA1-mutation associated leukemia in children with trisomy 21 mosaic]. Klin Padiatr 2012; 224(3): 153–155. (In Deutsch). DOI: 10.1055/s-0032–1308988
11. Bhatnagar N., Nizery L., Tunstall O., Vyas P., Roberts I. Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update. Curr Hematol Malig Rep 2016; 11(5): 333–341. DOI: 10.1007/s11899–016–0338-x
12. Wang L., Peters J.M., Fuda F., Li L., Karandikar N.J., Koduru P. et al. Acute megakaryoblastic leukemia associated with trisomy 21 demonstrates a distinct immunophenotype. Cytometry B Clin Cytom 2015; 88(4): 244–252. DOI: 10.1002/cyto.b.21198
13. Brouwer N., Matarraz S., Nierkens S., Hofmans M., Nováková M., da Costa E.S. et al.; On Behalf Of The EuroFlow Consortium. Immunophenotypic Analysis of Acute Megakaryoblastic Leukemia: A EuroFlow Study. Cancers (Basel) 2022;14 (6): 1583. DOI: 10.3390/cancers14061583
Review
For citations:
Gabitova N.Kh., Cherezova I.N., Kazakova F.M., Osipova I.V. Transient myelodysplastic syndrome in a newborn. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2023;68(5):65-69. (In Russ.) https://doi.org/10.21508/1027-4065-2023-68-5-65-69
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