Transient leukemia of Down syndrome

Abstract

Childhood leukemia is mostly a "developmental accident" during fetal hematopoiesis and may require multiple prenatal and postnatal "hits". The World Health Organization defines transient leukemia of Down syndrome (DS) as increased peripheral blood blasts in neonates with DS and classifies this type of leukemia as a separate entity. Although it was shown that DS predisposes children to myeloid leukemia, neither the nature of the predisposition nor the associated genetic lesions have been defined. Acute myeloid leukemia of DS is a unique disease characterized by a long pre-leukemic, myelodysplastic phase, unusual chromosomal findings and a high cure rate. In the present manuscript, we present a comprehensive review of the literature about clinical and biological findings of transient leukemia of DS (TL-DS) and link them with the genetic discoveries in the field. We address the manuscript to the pediatric generalist and especially to the next generation of pediatric hematologists.

Keywords:

• Down syndrome
• acute leukemia
• transient myelosis

Acknowledgements

Valentina Sas, Cristina Blag, Gabriela Zaharie, and Emil Puscas contributed equally to the current manuscript and are all considered co-first authors.

Disclosure statement

No potential conflict of interest was reported by the authors.

Additional information

Funding

Valentina Sas received funding from an internal grant of the Iuliu Hatieganu University – School of Doctoral Studies, PCD-2019-2020. Ciprian Tomuleasa was supported from four ongoing Grants of the Romanian Government: Institutional Development Fund (CNFIS-FDI-2019), Mobility Projects for Researchers MC-2018, and a Joint Romania – China Bilateral Collaboration Grant 2018–2019 (contract 14/2018), by a National Research Grant awarded for Frontiers Research Projects (PN-III-P4-ID-PCCF-2016-112) awarded to the Babes Bolyai University in collaboration with the Ion Chiricuta Oncology Institute Cluj Napoca, as well as by an Institutional Grant (ECHITAS – No. nr. 29PFE/18.10.2018), together with Ioana Berindan-Neagoe.