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Curr Hematol Malig Rep. 2016 Oct;11(5):333-41. doi: 10.1007/s11899-016-0338-x.

Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update.

Author information

1
Children's Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK.
2
Paediatric Intensive Care Unit, Robert Debré Hospital, 48 Boulevard Sérurier, 75019, Paris, France.
3
Bristol Royal Hospital for Children, Paul O'Gorman Building, Upper Maudlin St, Bristol, BS2 8B, UK.
4
Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
5
Department of Paediatrics, Children's Hospital, University of Oxford, John Radcliffe Hospital, OX3 9DU, Oxford, UK. irene.roberts@paediatrics.ox.ac.uk.

Abstract

Children with constitutional trisomy 21 (Down syndrome (DS)) have a unique predisposition to develop myeloid leukaemia of Down syndrome (ML-DS). This disorder is preceded by a transient neonatal preleukaemic syndrome, transient abnormal myelopoiesis (TAM). TAM and ML-DS are caused by co-operation between trisomy 21, which itself perturbs fetal haematopoiesis and acquired mutations in the key haematopoietic transcription factor gene GATA1. These mutations are found in almost one third of DS neonates and are frequently clinically and haematologcially 'silent'. While the majority of cases of TAM undergo spontaneous remission, ∼10 % will progress to ML-DS by acquiring transforming mutations in additional oncogenes. Recent advances in the unique biological, cytogenetic and molecular characteristics of TAM and ML-DS are reviewed here.

KEYWORDS:

Acute leukaemia; Down syndrome; Myeloproliferative disorders; Transient abnormal myelopoiesis

PMID:
27510823
PMCID:
PMC5031718
DOI:
10.1007/s11899-016-0338-x
[Indexed for MEDLINE]
Free PMC Article

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