ArticleBlood advances2020
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Article in Blood advances, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 89 papers, 1 of them a synthesis that pooled it.
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Who cites it
89 citing papers in PubMed, 1 synthesis or guideline pooled it, 151 citations in OpenAlex.
- Impact of secondary-type mutations on the prognosis of AML patients with NPM1 mutation: a systematic review and meta-analysis.Annals of hematology · 2025Pooled it
- Functional analysis of germline RUNX1 variants identified in individuals with suspected familial platelet disorder.Blood advances · 2026Article
- Potential advantage of clinical exome sequencing inJournal of medical genetics · 2026Article
- Preemptive hematopoietic stem cell transplantation inHaematologica · 2026Article
- SomaticHemaSphere · 2026Article
- Genetic influences on haematopoiesis.Nature reviews. Genetics · 2026Review
- Article
- Hematologic malignancies in pediatric patients with RUNX1-familial platelet disorder with associated myeloid malignancy.Blood advances · 2026Observational
- TNF-α signaling drives myeloid skewing and clonal expansion of stem and progenitor cells inHaematologica · 2026Article
- Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies.Cancers · 2026Review
- Targeting RUNX1 Germline Variants: Agents Under Investigation.Current hematologic malignancy reports · 2025Review
- Molecular diagnosis of inherited platelet disorders: a tale of two realities - advanced vs. resource-limited setting.Thrombosis journal · 2025Review
- Standardized Culture of Skin Fibroblasts From Punch Biopsies for Germline DNA Isolation in Myeloid Malignancies: A Practical Bedside-to-Laboratory Approach.Bio-protocol · 2025Article
- Genetic Predisposition to Hematologic Malignancies.Cold Spring Harbor perspectives in medicine · 2025Review
- Insights into the clinical, platelet and genetic landscape of inherited thrombocytopenia with malignancy risk.British journal of haematology · 2025Article
- A Novel Approach to Prognostic Factors and Risk Stratification in Pediatric AML: Case Report and Literature Review.International journal of molecular sciences · 2025Review
- Broadening the differential diagnosis associated with germlineHaematologica · 2025Article
- Hereditary Hematopoietic Malignancies: Considerations for Optimizing Diagnosis and Management.Current oncology reports · 2025Review
- Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.Nature genetics · 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
29 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
59 authors at 18 institutions in 5 countries.
Funding
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 10 novel RUNX1-mutated FPD-MM families. Genomic analyses on these families detected 2 partial gene deletions, 3 novel mutations, and 5 recurrent mutations as the germline RUNX1 alterations leading to FPD-MM. Combining genomic data from the families reported herein with aggregated published data sets resulted in 130 germline RUNX1 families, which allowed us to investigate whether specific germline mutation characteristics (type, location) could explain the large phenotypic heterogeneity between patients with familial platelet disorder and different HMs. Comparing the somatic mutational signatures between the available familial (n = 35) and published sporadic (n = 137) RUNX1-mutated AML patients showed enrichment for somatic mutations affecting the second RUNX1 allele and GATA2. Conversely, we observed a decreased number of somatic mutations affecting NRAS, SRSF2, and DNMT3A and the collective genes associated with CHIP and epigenetic regulation. This is the largest aggregation and analysis of germline RUNX1 mutations performed to date, providing a unique opportunity to examine the factors underlying phenotypic differences and disease progression from FPD to MM.
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Registered trials
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.