RUNX1 mutations mitigate quiescence to promote transformation of hematopoietic progenitors in Fanconi anemia.

doi:10.1038/s41375-023-01945-6

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Article

RUNX1 mutations mitigate quiescence to promote transformation of hematopoietic progenitors in Fanconi anemia.

Leukemia - 1 Aug 2023

Marion William, Koppe Tiago, Chen Chun-Chin, Wang Dahai, Frenis Katie, Fierstein Sara, Sensharma Prerana, Aumais Olivia, Peters Michael, Ruiz-Torres Sonya, Chihanga Tafadzwa, Boettcher Steffen, Shimamura Akiko, Bauer Daniel E, Schlaeger Thorsten, Wells Susanne I, Ebert Benjamin L, Starczynowski Daniel, da Rocha Edroaldo Lummertz, Rowe R Grant

Abstract excerpt

Many inherited bone marrow failure syndromes (IBMFSs) present a high risk of transformation to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). During transformation of IBMFSs, hematopoietic stem and progenitor cells (HSPCs) with poor fitness gain ectopic, dysregulated self-renewal secondary to somatic mutations via undefined mechanisms. Here, in the context of the prototypical IBMFS Fanconi...

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Identifiers

PMID: 37391485
DOI: 10.1038/s41375-023-01945-6
PMCID: PMC11009868

Genes

RUNX1
BRCA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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