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Clinical significance of preleukemic somatic GATA1 mutations in children with Down syndrome

25 Jun 2025

Abstract excerpt

ABSTRACT: Children with Down syndrome (DS) have a high risk of GATA1-associated myeloid leukemia (ML-DS) before age 4 years. Somatic N-terminal GATA1 mutations (GATA1s) are necessary, but not sufficient, for ML-DS, but their significance at birth for individual babies and whether mutations occur after birth is unclear. To address these questions, we performed a prospective study of newborns with DS using...

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PMID: 40561204
DOI: 10.1182/blood.2025029250

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