ReviewInternational journal of hematology2017
Germline ETV6 mutations and predisposition to hematological malignancies.
Review in International journal of hematology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
45 citing papers in PubMed, 86 citations in OpenAlex.
- Multi-omics analysis of pediatric minimally differentiated acute myeloid leukemia reveals RUNX1-driven stemness and chemoresistance.Leukemia · 2026Article
- Altered cytoskeletal integrity underlies impaired platelet shape change and defective thrombus formation in ETV6-related thrombocytopenia.British journal of haematology · 2026Article
- Genome-Wide Association Studies for 24 Hematological Traits in Production Pigs Before and After Weaning.Animal genetics · 2026Article
- FBXW7 mutations reprogram glucose metabolism by activating the ETV6-GLUT1 axis.Molecular cancer · 2026Article
- ETS Variant Transcription Factor 6 Promotes Glucose Metabolism Reprogramming in HCC.Journal of cellular and molecular medicine · 2026Article
- Pediatric leukemia: origins, pathogenesis, the role of microenvironment and immunological modulation.Frontiers in immunology · 2026Review
- Case Report: ETV6 c.744del gene mutation acute lymphoblastic leukemia in identical twins.Frontiers in pediatrics · 2026Article
- Pandora's Box of AML: HowBiomedicines · 2025Review
- 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
- Rare germline ETV6 variant associated with thrombocytopenia and acute leukemia.Annals of hematology · 2025Article
- Review
- Article
- Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders.Best practice & research. Clinical haematology · 2024Review
- A new genomic framework to categorize pediatric acute myeloid leukemia.Nature genetics · 2024Article
- Germline Variants and Characteristic Features of Hereditary Hematological Malignancy Syndrome.International journal of molecular sciences · 2024Review
- Rescuing biologically relevant consensus regions across replicated samples.BMC bioinformatics · 2023Article
- Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26.Blood · 2023Article
- Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Patients with thrombocytopenia 5 have an autosomal dominant disorder of decreased platelet number with tendency to bleed, usually presenting in childhood, and have been found to have germline mutations in ETV6, which encodes a master hematopoietic transcription factor. Some patients who present similarly have inherited mutations in RUNX1 or ANKRD26. All three germline syndromes are also associated with a predisposition to myelodysplastic syndrome (MDS) and acute leukemia (AL). Since the first description of germline ETV6 mutations, 18 families have been reported. The common phenotype is mild to moderate thrombocytopenia with a variable predisposition to acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), and MDS. This review will focus upon the role of ETV6 in hematopoiesis, especially in myeloid differentiation and maturation, and will describe the functional effects of mutant ETV6. The review will also provide an overview of common clinical features as well as recommendations for patient screening and follow-up and will debate whether additional clinical features should be included with the germline ETV6 syndrome.
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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.