Spectrum of abnormalities and clonal transformation in germline RUNX1 familial platelet disorder and a genomic comparative analysis with somatic RUNX1 mutations in MDS/MPN overlap neoplasms
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DOI: 10.1038/s41375-020-0752-x
Abstract: The Runt-related transcription factor 1 (RUNX1) gene encodes a transcription factor that plays a crucial role in embryogenesis and definitive hematopoiesis [1]. Germline RUNX1 mutations (RUNX1) result in a familial platelet disorder with propensity to… read more here.
Keywords: germline runx1; somatic runx1; runx1; mpn overlap ... See more keywords
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
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DOI: 10.1182/bloodadvances.2019000901
Abstract: First reported in 1999, germline runt-related transcription factor 1 (RUNX1) mutations are a well-established cause of familial platelet disorder with predisposition to myeloid malignancy (FPD-MM). We present the clinical phenotypes and genetic mutations detected in… read more here.
Keywords: germline runx1; heterogeneity; runx1; runx1 mutated ... See more keywords
B-cell acute lymphoblastic leukemia in patients with germline RUNX1 mutations.
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DOI: 10.1182/bloodadvances.2021004653
Abstract: Germline RUNX1 mutations underlie a syndrome, RUNX1-familial platelet disorder (RUNX1-FPD), characterized by bleeding symptoms that result from quantitative and/or qualitative defect in platelets and a significantly increased risk for developing hematologic malignancies. Myeloid neoplasms are… read more here.
Keywords: cell acute; germline runx1; runx1; lymphoblastic leukemia ... See more keywords