Cases of transient abnormal myelopoiesis

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Abstract

Transient abnormal myelopoiesis (TAM) is a unique hematological syndrome specific for neonates with Down syndrome. Clinical and hematological manifestations of ТАМ are similar manifestations of acute leukemia, but they may resolve spontaneously by few weeks/months after birth. Summation trisomy 21 and GATA1 mutation in blast clone is a required element for development TAM. Presentation of this syndrome occurs in the first days of life; clinical manifestations may be absent (“silent” TAM) or even lead to death of fetus and neonate. The main interest in the study of this issue is the fact that after spontaneous regression there in 20% of cases at the age of 3–4 years developing acute megakaryoblastic leukaemia (AMKL). The basic transformation factors TAM to AMKL are unknown. In this article we represent 6 cases of TAM identified in Dmitry Rogachev National Research Center for Pediatric Hematology, Oncology, and Immunology from 2012 to 2019. Parents of these patients gave their agreement to use personal data in research and publications.

About the authors

M. A. Кlimentova

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology,
Ministry of Healthcare of Russian Federation

Author for correspondence.
ORCID iD: 0000-0003-1216-817X
117997, Москва, ул. Саморы Машела, 1 Russian Federation

I. I. Chikvina

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology,
Ministry of Healthcare of Russian Federation

ORCID iD: 0000-0002-5067-8288
117997, Москва, ул. Саморы Машела, 1 Russian Federation

L. A. Khachatryan

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology,
Ministry of Healthcare of Russian Federation

Email: lili.2510@yandex.ru
ORCID iD: 0000-0001-7265-0414

Cand. of Ski. (Med.), hematologist, Head of Box Department of Hematology/Oncology, 

117997, Moscow, Samorу Mashela st., 1

Russian Federation

References

  1. Watanabe K. Recent advances in the understanding of transient abnormal myelopoiesis in Down syndrome. Pediatr Int 2019; 61 (3): 222–9. doi: 10.1111/ped.13776
  2. Tunstall O., Bhatnagar N., James B., Norton A., O'Marcaigh A.S., Watts T., et al. Guidelines for the investigation and management of Transient Leukaemia of Down Syndrome. Br J Haematol 2018; 182 (2): 200–11. doi: 10.1111/bjh.15390
  3. 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 (11): 1293– 9. doi: 10.1038/ng.2759
  4. Nakashima M.O., Shetty S., Chicka M., Flagg A., Eng C., Cotta C.V. Transient abnormal myelopoiesis of a newborn not associated with chromosome 21 abnormalities or GATA1 mutations. Pediatr Blood Cancer 2015; 62 (2): 353–5. doi: 10.1002/pbc.25226
  5. Mansini A.P. Mutation characterization in the GATA-1 gene in patients with Down's Syndrome diagnosed with transient abnormal myelopoiesis or acute megakaryoblastic leukemia. Arch Argent Pediatr 2013; 111 (6): 532–6. doi: 10.5546/aap.2013.532
  6. Hoeller S., Bihl M.P., Tzankov A., Chaffard R., Hirschmann P., Miny P., et al. Morphologic and GATA1 sequencing analysis of hematopoiesis in fetuses with trisomy 21. Hum Pathol 2014; 45 (5): 1003–9. doi: 10.1016/j.humpath.2013.12.014
  7. Queiroz L.B., Lima B.D., Mazzeu J.F., Camargo R., Córdoba M.S., Q. Magalhães I., et al. Analysis of GATA1 mutations and leukemogenesis in newborns with Down syndrome. Genet Mol Res 2013; 12 (4): 4630–8. doi: 10.4238/2013
  8. 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): 333–41. doi: 10.1007/s11899-016-0338-x
  9. Roberts I., Izraeli S. Haematopoietic development and leukaemia in Down syndrome. Br J Haematol 2014; 167 (5): 587–99. doi: 10.1111/bjh.13096
  10. Yin L., Lovell M.A., Wilson M.L., Wei Q., Liang X. Distinct GATA1 Point Mutations in Monozygotic Twins With Down Syndrome and Transient Abnormal Myelopoiesis From a Triplet Pregnancy: A Case Report and Review of Literature. Am J Clin Pathol 2016; 146 (6): 753–9. doi: 10.1093/ajcp/aqw190
  11. Falasco B.F., Durante B., Faria D.K., Faria C.S., Rosolen D.C.B., Antonangelo L. Transient abnormal myelopoiesis with pericardial effusion in Down syndrome: Case report. Clin Case Rep 2019; 7 (7): 1280–4. doi: 10.1002/ccr3.2184
  12. Li M.J., Lee N.C., Yang Y.L., Yen H.J., Chang H.H., Chien Y.H., et al. Longterm outcome for Down syndrome patients with hematopoietic disorders. J Formos Med Assoc. 2016; 115 (2): 94–9. doi: 10.1016/j.jfma.2015.01. 009
  13. Roberts I., Fordham N.J., Rao A., Bain B.J. Neonatal leukaemia. Br J Haematol 2018; 182 (2): 170–84. doi: 10.1111/bjh.15246
  14. Rozen L., Huybrechts S., Dedeken L., Heijmans C., Dessars B., Heimann P., et al. Transient leukemia in a newborn without Down syndrome: case report and review of the literature, Eur J Pediatr. 2014; 173 (12): 1643–7. doi: 10.1007/s00431-013-2163-8
  15. Bombery M., Vergilio J.A. Transient abnormal myelopoiesis in neonates: GATA get the diagnosis. Arch Pathol Lab Med 2014; 138 (10): 1302–6. doi: 10.5858/arpa.2014-0304-CC
  16. Corazza F., Astolfi A., Libri V., Franzoni M., Serravalle S., Alessandroni R., et al. Transient abnormal myelopoiesis in a phenotypically normal newborn with polyclonal trisomy 21. Int J Hematol 2014; 99 (6): 794–7. DOI: 10.1007 /s12185-014-1584-0
  17. Federmann B., Fasan A., Kagan K.O., Haen S., Fend F. Transient abnormal myelopoiesis/acute megakaryoblastic leukemia diagnosed in the placenta of a stillborn Down syndrome fetus with targeted next-generation sequencing. Leukemia 2015; 29 (1): 232–3. doi: 10.1038/leu.2014.258
  18. Wilcock J., Devitt K., Gardner J.A. Transient Abnormal Myelopoiesis: A Clue to Trisomy 21. J Assoc Genet Technol 2019; 45 (2): 77–9.

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Copyright (c) 2025 Кlimentova M.A., Chikvina I.I., Khachatryan L.A.

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