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Article

The clinical phenotype of germline RUNX1 mutations in relation to the accompanying somatic variants and RUNX1 isoform expression.

Genes, chromosomes & cancer - 1 Nov 2023

Cabrerizo Granados David, Barbosa Indira, Baliakas Panagiotis, Hellström-Lindberg Eva, Lundin Vanessa

Abstract excerpt

Germline RUNX1 mutations lead to familial platelet disorder with associated myeloid malignancy (FPDMM), characterized by thrombocytopenia, abnormal bleeding, and an elevated risk of developing myelodysplastic neoplasia (MDS) and acute myeloid leukemia (AML) at young age. However, it is not known why or how germline carriers of RUNX1 mutations have a particular propensity to develop myeloid hematologic...

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PMID: 37303296
DOI: 10.1002/gcc.23184

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