GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia.

doi:10.1182/blood-2013-07-515148

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Article

GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia.

Blood - 5 Dec 2013

Roberts Irene, Alford Kate, Hall Georgina, Juban Gaetan, Richmond Helen, Norton Alice, Vallance Grant, Perkins Kelly, Marchi Emanuele, McGowan Simon, Roy Anindita, Cowan Gillian, Anthony Mark, Gupta Amit, Ho John, Uthaya Sabita, Curley Anna, Rasiah Shree Vishna, Watts Timothy, Nicholl Richard, Bedford-Russell Alison, Blumberg Raoul, Thomas Angela, Gibson Brenda, Halsey Chris, Lee Pek-Wan, Godambe Sunit, Sweeney Connor, Bhatnagar Neha, Goriely Anne, Campbell Peter, Vyas Paresh

Abstract excerpt

Transient abnormal myelopoiesis (TAM), a preleukemic disorder unique to neonates with Down syndrome (DS), may transform to childhood acute myeloid leukemia (ML-DS). Acquired GATA1 mutations are present in both TAM and ML-DS. Current definitions of TAM specify neither the percentage of blasts nor the role of GATA1 mutation analysis. To define TAM, we prospectively analyzed clinical findings, blood counts and...

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Identifiers

PMID: 24021668
DOI: 10.1182/blood-2013-07-515148
PMCID: PMC3995281

Genes

GATA1

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Source receipt: pubmed, retrieved 6 Sept 2026.

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