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Article

High frequency of germline RUNX1 mutations in patients with RUNX1-mutated AML.

Blood - 21 May 2020

Simon Laura, Spinella Jean-François, Yao Chi-Yuan, Lavallée Vincent-Philippe, Boivin Isabel, Boucher Geneviève, Audemard Eric, Bordeleau Marie-Eve, Lemieux Sébastien, Hébert Josée, Sauvageau Guy

Abstract excerpt

RUNX1 is mutated in ∼10% of adult acute myeloid leukemia (AML). Although most RUNX1 mutations in this disease are believed to be acquired, they can also be germline. Indeed, germline RUNX1 mutations result in the well-described autosomal-dominant familial platelet disorder with predisposition to hematologic malignancies (RUNX1-FPD, FPD/AML, FPDMM); ∼44% of affected individuals progress to AML or myelodysplastic...

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PMID: 32315381
DOI: 10.1182/blood.2019003357

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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