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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.

Original publication

DOI

10.1007/s11899-016-0338-x

Type

Journal article

Journal

Curr Hematol Malig Rep

Publication Date

10/2016

Volume

11

Pages

333 - 341

Keywords

Acute leukaemia, Down syndrome, Myeloproliferative disorders, Transient abnormal myelopoiesis, Down Syndrome, GATA1 Transcription Factor, Humans, Leukemia, Myeloid, Acute, Leukemoid Reaction, Risk, Stem Cell Transplantation