ArticleBlood2020
High frequency of germline RUNX1 mutations in patients with RUNX1-mutated AML.
Article in Blood, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 86 citations in OpenAlex.
- Real-world investigation of germ line predisposition to myelodysplastic syndromes.Blood advances · 2026Article
- Immunophenotypic, Genetic, and Clinical Features Associated With RUNX1 Mutation in Acute Leukemias and Chronic Myeloid Neoplasms.International journal of laboratory hematology · 2026Article
- Article
- Pandora's Box of AML: HowBiomedicines · 2025Review
- Detecting likely germline variants during tumor-based molecular profiling.The Journal of clinical investigation · 2025Review
- Diagnosis of Inherited Platelet Disorders: Clinical Evaluation and Functional and Molecular Assays.Biomolecules · 2025Review
- Molecular Mechanisms of Biochanin A in AML Cells: Apoptosis Induction and Pathway-Specific Regulation in U937 and THP-1.International journal of molecular sciences · 2025Article
- Examining the Effects of the RUNX1 p.Leu43Ser Variant on FPD/AML Phenotypes Using a CRISPR/Cas9-Generated Knock-In Murine Model.Biomolecules · 2025Article
- IL1RAP is an immunotherapeutic target for normal karyotype triple-mutated acute myeloid leukemia.Biomarker research · 2025Article
- Myelodysplastic syndrome with dual germline RUNX1 and DDX41 variants: a rare genetic predisposition case.Familial cancer · 2025Article
- Targeting the CD74 signaling axis suppresses inflammation and rescues defective hematopoiesis inScience translational medicine · 2025Article
- Review
- RUNX1-FPDMM in families with mild thrombocytopenia and platelet function anomalies: a case series.Frontiers in medicine · 2025Article
- Article
- Inherited Predispositions to Myeloid Neoplasms: Pathogenesis and Clinical Implications.Annual review of pathology · 2025Review
- FLI1 is associated with regulation of DNA methylation and megakaryocytic differentiation in FPDMM caused by a RUNX1 transactivation domain mutation.Scientific reports · 2024Article
- Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders.Best practice & research. Clinical haematology · 2024Review
- Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy.Blood advances · 2024Article
- Novel biomarkers: the RUNX family as prognostic predictors in colorectal cancer.Frontiers in immunology · 2024Article
- Natural history study of patients with familial platelet disorder with associated myeloid malignancy.Blood · 2023Article
Corrections and comments
- Commented on byBorn to RUNX1.2020
- Commented on by
- Erratum issued
Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 syndromes. Using the Leucegene RUNX1 AML patient group, we sought to investigate the proportion of germline vs acquired RUNX1 mutations in this cohort. Our results showed that 30% of RUNX1 mutations in our AML cohort are germline. Molecular profiling revealed higher frequencies of NRAS mutations and other mutations known to activate various signaling pathways in these patients with RUNX1 germline-mutated AML. Moreover, 2 patients (mother and son) had co-occurrence of RUNX1 and CEBPA germline mutations, with variable AML disease onset at 59 and 27 years, respectively. Together, these data suggest a higher than anticipated frequency of germline RUNX1 mutations in the Leucegene cohort and further highlight the importance of testing for RUNX1 mutations in instances in which allogeneic stem cell transplantation using a related donor is envisioned.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.