ArticleLeukemia2014
Epimutations mimic genomic mutations of DNMT3A in acute myeloid leukemia.
Article in Leukemia, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 55 citations in OpenAlex.
- Epigenetic alterations affecting hematopoietic regulatory networks as drivers of mixed myeloid/lymphoid leukemia.Nature communications · 2024Article
- Identification of Novel DNA Methylation Prognostic Biomarkers for AML With Normal Cytogenetics.JCO clinical cancer informatics · 2024Article
- MethScore as a new comprehensive DNA methylation-based value refining the prognosis in acute myeloid leukemia.Clinical epigenetics · 2024Article
- HOXA9 Regulome and Pharmacological Interventions in Leukemia.Advances in experimental medicine and biology · 2024Review
- Modern Risk Stratification of Acute Myeloid Leukemia in 2023: Integrating Established and Emerging Prognostic Factors.Cancers · 2023Review
- Epigenetic regulation in hematopoiesis and its implications in the targeted therapy of hematologic malignancies.Signal transduction and targeted therapy · 2023Review
- A validation study of potential prognostic DNA methylation biomarkers in patients with acute myeloid leukemia using a custom DNA methylation sequencing panel.Clinical epigenetics · 2022Article
- How to Translate DNA Methylation Biomarkers Into Clinical Practice.Frontiers in cell and developmental biology · 2022Review
- Investigation of measurable residual disease in acute myeloid leukemia by DNA methylation patterns.Leukemia · 2022Article
- DNA Methylation GrimAge and Incident Diabetes: The Coronary Artery Risk Development in Young Adults (CARDIA) Study.Diabetes · 2021Observational
- Expression and prognosis analysis ofAging · 2020Article
- Association between increased mutation rates in DNMT3A and FLT3-ITD and poor prognosis of patients with acute myeloid leukemia.Experimental and therapeutic medicine · 2019Article
- Aberrant DNA Methylation in Acute Myeloid Leukemia and Its Clinical Implications.International journal of molecular sciences · 2019Review
- Tracking myeloid malignancies by targeted analysis of successive DNA methylation at neighboring CG dinucleotides.Haematologica · 2019Article
- Influence of DNMT3A R882 mutations on AML prognosis determined by the allele ratio in Chinese patients.Journal of translational medicine · 2019Article
- Chicken or Egg: Is Clonal Hematopoiesis Primarily Caused by Genetic or Epigenetic Aberrations?Frontiers in genetics · 2019Review
- Pan-cancer characterisation of microRNA across cancer hallmarks reveals microRNA-mediated downregulation of tumour suppressors.Nature communications · 2018Article
- Variants ofLife science alliance · 2018Article
- DNA methylation profile in chronic myelomonocytic leukemia associates with distinct clinical, biological and genetic features.Epigenetics · 2018Article
- DNA Methylation Events as Markers for Diagnosis and Management of Acute Myeloid Leukemia and Myelodysplastic Syndrome.Disease markers · 2017Review
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the genetic sequence of the DNA de novo methyltransferase DNMT3A (DNA methyltransferase 3A) are found in many patients with acute myeloid leukemia (AML). They lead to dysfunction of DNMT3A protein and represent a marker for poor prognosis. Effects of genetic mutations can be mimicked by epigenetic modifications in the DNA methylation (DNAm) pattern. Using DNAm profiles of the Cancer Genome Atlas Research Network (TCGA), we identified aberrant hypermethylation at an internal promoter region of DNMT3A, which occurred in about 40% of AML patients. Bisulfite pyrosequencing assays designed for this genomic region validated hypermethylation specifically in a subset of our AML samples. High DNAm levels at this site are particularly observed in samples without genetic mutations in DNMT3A. Epimutations and mutations of DNMT3A were associated with related gene expression changes such as upregulation of the homeobox genes in HOXA and HOXB clusters. Furthermore, epimutations in DNMT3A were enriched in patients with poor or intermediate cytogenetic risk, and in patients with shorter event-free survival and overall survival (OS). Taken together, aberrant DNA hypermethylation within the DNMT3A gene, in analogy to DNMT3A mutations, is frequently observed in AML and both modifications seem to be useful for risk stratification or choice of therapeutic regimen.
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Registered trials
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