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Mechanisms of progression of myeloid preleukemia to transformed myeloid leukemia in children with Down syndrome

Abstract:

Myeloid leukemia in Down syndrome (ML-DS) clonally evolves from transient abnormal myelopoiesis (TAM), a preleukemic condition in DS newborns. To define mechanisms of leukemic transformation, we combined exome and targeted resequencing of 111 TAM and 141 ML-DS samples with functional analyses. TAM requires trisomy 21 and truncating mutations in GATA1; additional TAM variants are usually not pathogenic. By contrast, in ML-DS, clonal and subclonal variants are functionally required. We identifi...

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Publication status:
Published
Peer review status:
Peer reviewed

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Institution:
University of Oxford
Department:
RDM
Subgroup:
Weatherall Insti. of Molecular Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Department:
RDM
Subgroup:
Weatherall Insti. of Molecular Medicine
Role:
Author
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Publisher:
Elsevier Publisher's website
Journal:
Cancer Cell Journal website
Volume:
36
Issue:
2
Pages:
123-138.e10
Publication date:
2019-07-11
Acceptance date:
2019-06-11
DOI:
ISSN:
1535-6108
Pubs id:
pubs:1031364
UUID:
uuid:e17cd56b-7903-489b-bf90-a1c8a2092d4c
Source identifiers:
1031364
Local pid:
pubs:1031364

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