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Transient leukemia in a newborn without Down syndrome: case report and review of the literature

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Abstract

Transient neonatal leukemia occurs almost exclusively in Down syndrome babies. We report here the unusual case of a newborn without Down syndrome who presented neonatal transient leukemia and who achieved spontaneously complete remission. Trisomy 21 and GATA1 mutation were both present in leukemic cells. While close follow-up is advised since true leukemia may develop later, the patient is still in remission for 2.5 years. We performed a literature review of 15 other similar cases. Conclusion: Our case of transient leukemia without Down syndrome and the literature review highlight the important role of trisomy 21 and GATA1 mutation in the development of transient neonatal leukemia.

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Abbreviations

TL:

Transient leukemia

DS:

Down syndrome

AMKL:

Acute megakaryoblastic leukemia

AML:

Acute myeloid leukemia

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Correspondence to Laurence Rozen.

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Rozen, L., Huybrechts, S., Dedeken, L. et al. Transient leukemia in a newborn without Down syndrome: case report and review of the literature. Eur J Pediatr 173, 1643–1647 (2014). https://doi.org/10.1007/s00431-013-2163-8

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  • DOI: https://doi.org/10.1007/s00431-013-2163-8

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