What question did this study set out to answer?

To describe unique cases of clonal proliferation associated with Down syndrome and GATA1 mutation.

February 22, 2026

Trisomy 21 and GATA1 mutation in clonal proliferation: case series of non-classical presentations in individuals with and without Down syndrome

Key Points

To describe unique cases of clonal proliferation associated with Down syndrome and GATA1 mutation.
Case series analysis of individuals with and without Down syndrome
Focus on atypical manifestations of transient abnormal myelopoiesis and myeloid leukaemia
Identified three cases showcasing non-classical presentations
Demonstrated interplay between GATA1 mutation and trisomy 21
Highlighted potential for clonal proliferation despite atypical characteristics

Abstract

Introduction: Transient abnormal myelopoiesis (TAM) and myeloid leukaemia of Down syndrome (ML-DS) are caused by cooperation between trisomy 21 (T21) and acquired GATA1 mutation. We describe three cases that differ from classic TAM and ML-DS but still demonstrate the interplay between T21 and GATA1 mutation with resultant clonal proliferation.

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Trisomy 21 and GATA1 mutation in clonal proliferation: case series of non-classical presentations in individuals with and without Down syndrome

Key Points

Abstract

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