ArticleBlood2008
Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q.
Article in Blood, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 80 citations in OpenAlex.
- Article
- Identification and validation of prognostic genes for lung adenocarcinoma prognosis based on PANoptosis-related genes.Discover oncology · 2025Article
- Familial Acute Promyelocytic Leukemia: A Case Report and Review of the Literature.OncoTargets and therapy · 2024Article
- Over-expression of Dyrk1A affects bleeding by modulating plasma fibronectin and fibrinogen level in mice.Journal of cellular and molecular medicine · 2023Article
- RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.Blood advances · 2020Article
- Emerging roles for multifunctional ion channel auxiliary subunits in cancer.Cell calcium · 2019Review
- Thrombocytopenia and Predisposition to Acute Myeloid Leukemia due to Mosaic Ring 21 with Loss ofMolecular syndromology · 2019Article
- Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies.Molecular cytogenetics · 2018Article
- Myeloid neoplasms with germ line RUNX1 mutation.International journal of hematology · 2017Review
- De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.American journal of human genetics · 2016Article
- Clinical utility gene card for: Familial platelet disorder with associated myeloid malignancies.European journal of human genetics : EJHG · 2016Article
- Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.Orphanet journal of rare diseases · 2016Article
- Genetic basis of myeloid transformation in familial platelet disorder/acute myeloid leukemia patients with haploinsufficient RUNX1 allele.Blood cancer journal · 2016Article
- Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development.Molecular cytogenetics · 2016Article
- Intronic cleavage and polyadenylation regulates gene expression during DNA damage response through U1 snRNA.Cell discovery · 2016Article
- Deletion of the App-Runx1 region in mice models human partial monosomy 21.Disease models & mechanisms · 2015Article
- Review
- Biological and clinical features of trisomy 21 in adult patients with acute myeloid leukemia.Clinical lymphoma, myeloma & leukemia · 2013Article
- Recognizing familial myeloid leukemia in adults.Therapeutic advances in hematology · 2013Article
- A neonate with congenital amegakaryocytic thrombocytopenia associated with a chromosomal microdeletion at 21q22.11 including the gene RUNX1.Journal of perinatology : official journal of the California Perinatal Association · 2013Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
Several lines of evidence support the presence of dosage-sensitive genes on chromosome 21 that regulate leukemogenesis and hematopoiesis. We report a detailed clinical and molecular characterization of 3 patients with chronic thrombocytopenia caused by distinct constitutional microdeletions involving chromosomal region 21q22.12. The patients exhibited growth restriction, dysmorphic features, and developmental delays. One patient developed acute myelogenous leukemia (AML) at 6 years of age. All 3 deletions included the RUNX1, CLIC6, DSCR, and KCNE1 genes. Our data provide additional support for the role of RUNX1 haploinsufficiency in megakaryopoiesis and predisposition to AML. The leukemic clone had trisomy 21 resulting from duplication of chromosome 21 containing the RUNX1 deletion. This shows that genes other than RUNX1 must also play a role in AML associated with trisomy 21. We recommend that children with syndromic thrombocytopenia have clinical array-comparative genomic hybridization analysis and appropriate cytogenetic studies to facilitate our ability to provide a definitive diagnosis.
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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.