ArticleBlood advances2021
Baseline and serial molecular profiling predicts outcomes with hypomethylating agents in myelodysplastic syndromes.
Article in Blood advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 72 citations in OpenAlex.
- Application of next-generation sequencing in the treatment of myelodysplastic syndrome: from mechanisms to clinical practice.Blood science (Baltimore, Md.) · 2026Review
- P300/CBP inhibition with inobrodib in combination with gilteritinib and venetoclax targets leukemia stem cells in epigenetic mutant AML.Science advances · 2026Article
- Prognostic Model Combining Mutational and Cytogenetic Profiles in Acute Myeloid Leukemia Treated with Venetoclax and Hypomethylating Agents.Blood cancer discovery · 2026Article
- Peri-transplant conundrums: optimizing maintenance therapy using MRD-directed approaches.Hematology. American Society of Hematology. Education Program · 2025Review
- Molecular and Clinical Insights intoInternational journal of molecular sciences · 2025Review
- Myelodysplastic syndromes: Updates on Genomic Landscape, Molecular Subtypes, & Targeted Therapies.Current hematologic malignancy reports · 2025Review
- Long-term follow-up and combined Phase 2 results of eprenetapopt and azacitidine in patients withHemaSphere · 2025Article
- Transplantation outcomes of TP53-mutant AML and MDS: a single transplantation center experience of 63 patients.International journal of hematology · 2025Article
- TP53 -Mutated Myeloid Neoplasms: 2024 Update on Diagnosis, Risk-Stratification, and Management.American journal of hematology · 2025Review
- Allogeneic Stem Cell Transplantation: The Relevance of Conditioning Regime Intensity for Myelodysplastic Syndromes (MDS).Current oncology (Toronto, Ont.) · 2025Review
- Better pre-transplant treatment options for TP53-mutated MDS: cytoreductive or non-cytoreductive therapy?Bone marrow transplantation · 2025Article
- Integrating advanced analytical methods to assess epigenetic marks affecting response to hypomethylating agents in higher risk myelodysplastic syndrome.Molecular medicine (Cambridge, Mass.) · 2025Article
- Hotspot gene mutations and treatment response in myelodysplastic syndromes (MDS): predictive biomarkers and targeted strategies.Frontiers in medicine · 2025Review
- Transplant options and outcomes for TP53 myeloid disease.Hematology. American Society of Hematology. Education Program · 2024Review
- Review
- Allogeneic hematopoietic cell transplantation in elderly patients with myelodysplastic syndromes: Considerations and challenges.Seminars in hematology · 2024Review
- [Long-term hypomethylating agents in patients with myelodysplastic syndromes: a multi-center retrospective study].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2024Article
- Molecular responses in decitabine- and decitabine/ venetoclax-treated patients with acute myeloid leukemia and myelodysplastic syndromes.Haematologica · 2024Article
- Measurable (Minimal) Residual Disease in Myelodysplastic Neoplasms (MDS): Current State and Perspectives.Cancers · 2024Review
- TP53-mutated acute myeloid leukemia and myelodysplastic syndrome: biology, treatment challenges, and upcoming approaches.Annals of hematology · 2024Review
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypomethylating agents (HMAs) are widely used in the treatment of myelodysplastic syndromes (MDSs), yet identifying those patients unlikely to benefit remains challenging. We assessed response and overall survival (OS) in 247 patients molecularly profiled by next-generation sequencing (NGS) before first-line HMA therapy, and a subset of 108 patients were sequenced serially during treatment. The most common mutations included TP53 (33.1%), ASXL1 (19%), TET2 (16.5%), DNMT3A (14.1%), and SRSF2 (12.1%). The overall response rate was 42.1%, with the composite TET2-mutant/ASXL1 wild-type genotype representing the strongest predictor of response (overall response rate, 62.1%; complete remission rate, 34.5%). The median OS for the cohort was 15 months, and the number of mutations detected by NGS (hazard ratio [HR], 1.22; P = .02), as well as mutations in TP53 (HR, 2.33; P = .001) and EZH2 (HR, 2.41; P = .04) were identified as independent covariates associated with inferior OS in multivariable analysis. Serial molecular profiling revealed that clearance of TP53 mutations during HMA therapy was associated with superior OS (HR, 0.28; P = .001) and improved outcome in patients proceeding to allogeneic hematopoietic cell transplantation. These data support baseline molecular profiling by NGS in MDS patients treated with HMAs and provide novel observations of sequential profiling during therapy that provide particular value in TP53-mutated disease.
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