ArticleNature communications2016
Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents.
Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 132 papers, 3 of them syntheses that pooled it.
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Who cites it
132 citing papers in PubMed, 3 syntheses or guidelines pooled it, 213 citations in OpenAlex.
- A practical framework RNMF for exploring the association between mutational signatures and genes using gene cumulative contribution abundance.Cancer medicine · 2022Pooled it
- Molecular Pathogenesis of Chronic Myelomonocytic Leukemia and Potential Molecular Targets for Treatment Approaches.Frontiers in oncology · 2021Pooled it
- Pooled it
- Decreased TXNRD1 is associated with resistance to tagraxofusp in blastic plasmacytoid dendritic cell neoplasms, as seen in phase II.Leukemia · 2026Trial
- Does stringent cytoreduction improve survival in advanced proliferative chronic myelomonocytic leukemia?Leukemia · 2026Trial
- Tagraxofusp, a CD123-targeted therapy, for chronic myelomonocytic leukemia: final results of a phase 1/2 study.Blood neoplasia · 2025Trial
- Clinical response to azacitidine in MDS is associated with distinct DNA methylation changes in HSPCs.Nature communications · 2025Trial
- Trial
- The ABNL-MARRO 001 study: a phase 1-2 study of randomly allocated active myeloid target compound combinations in MDS/MPN overlap syndromes.BMC cancer · 2022Trial
- Prognostic impact and timing considerations for allogeneic hematopoietic stem cell transplantation in chronic myelomonocytic leukemia.Blood cancer journal · 2020Trial
- Prognostic Role of Gene Mutations in Chronic Myelomonocytic Leukemia Patients Treated With Hypomethylating Agents.EBioMedicine · 2018Trial
- Dynamic changes in the clonal structure of MDS and AML in response to epigenetic therapy.Leukemia · 2017Trial
- Trial
- Cumulative incidence and prognostic factors for leukemic transformation in chronic myelomonocytic leukemia: a competing risk analysis.BMC cancer · 2026Article
- Transposable elements in hematopoietic stem cells upon aging and myeloid malignancies.Mobile DNA · 2026Review
- Article
- Molecular devolution in chronic myelomonocytic leukemia during treatment with decitabine/cedazuridine: A case report.Annals of hematology · 2026Article
- A comparative assessment of molecular-based prognostic models in CMML.Blood neoplasia · 2025Article
- Assessment of peripheral blood DNA methylation signatures as pharmacodynamic and predictive biomarkers during azacitidine therapy in juvenile myelomonocytic leukaemia: Results of the EWOG-MESRAT study.British journal of haematology · 2025Article
- BLAST: a globally applicable and molecularly versatile survival model for chronic myelomonocytic leukemia.Blood · 2025Article
72 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
34 authors at 14 institutions in 5 countries.
Funding
Abstract
The cytidine analogues azacytidine and 5-aza-2'-deoxycytidine (decitabine) are commonly used to treat myelodysplastic syndromes, with or without a myeloproliferative component. It remains unclear whether the response to these hypomethylating agents results from a cytotoxic or an epigenetic effect. In this study, we address this question in chronic myelomonocytic leukaemia. We describe a comprehensive analysis of the mutational landscape of these tumours, combining whole-exome and whole-genome sequencing. We identify an average of 14±5 somatic mutations in coding sequences of sorted monocyte DNA and the signatures of three mutational processes. Serial sequencing demonstrates that the response to hypomethylating agents is associated with changes in DNA methylation and gene expression, without any decrease in the mutation allele burden, nor prevention of new genetic alteration occurence. Our findings indicate that cytosine analogues restore a balanced haematopoiesis without decreasing the size of the mutated clone, arguing for a predominantly epigenetic effect.
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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.