ArticleBlood2015
Targeted sequencing identifies patients with preclinical MDS at high risk of disease progression.
Article in Blood, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 1 of them a synthesis that pooled it.
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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.
The trial behind it
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
75 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases.American journal of human genetics · 2016Pooled it
- The diagnostic utility of targeted gene panel sequencing in discriminating etiologies of cytopenia.American journal of hematology · 2019Trial
- IPSS-M downstaging before transplantation does not improve the prognosis of patients with myelodysplastic neoplasms.Bone marrow transplantation · 2026Article
- Bone marrow microenvironment in myelodysplastic neoplasms: insights into pathogenesis, biomarkers, and therapeutic targets.Cancer cell international · 2025Review
- Genome sequencing in the management of myelodysplastic syndromes and related disorders.Haematologica · 2025Review
- Innate immune-inflammatory signaling milieu in myeloid leukemia and aging-associated clonal hematopoiesis pathologies.Frontiers in immunology · 2025Review
- Beyond Hypomethylating Agents: Novel Therapies and Targeted Approaches.Clinical hematology international · 2025Review
- Differentiating primary bone marrow failure syndromes in children: a retrospective analysis of early clinical and laboratory features.Frontiers in pediatrics · 2025Article
- Article
- Value and limitations of targeted next-generation sequencing in idiopathic hypereosinophilia: an integrative diagnostic tool in challenging cases.Clinical and experimental medicine · 2024Article
- Review
- Genetic studies in clonal haematopoiesis, myelodysplastic neoplasms and acute myeloid leukaemia - a practical guide to WHO-HAEM5.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024Article
- Utility of targeted gene sequencing to differentiate myeloid malignancies from other cytopenic conditions.Blood advances · 2023Article
- Abnormal CD13/HLA-DR Expression Pattern on Myeloblasts Predicts Development of Myeloid Neoplasia in Patients With Clonal Cytopenia of Undetermined Significance.American journal of clinical pathology · 2022Article
- A predictive model for bone marrow disease in cytopenia based on noninvasive procedures.Blood advances · 2022Article
- Inflammatory Cytokine Profiles Do Not Differ Between Patients With Idiopathic Cytopenias of Undetermined Significance and Myelodysplastic Syndromes.HemaSphere · 2022Article
- Hematopoiesis, Inflammation and Aging-The Biological Background and Clinical Impact of Anemia and Increased C-Reactive Protein Levels on Elderly Individuals.Journal of clinical medicine · 2022Review
- Molecular markers demonstrate diagnostic and prognostic value in the evaluation of myelodysplastic syndromes in cytopenia patients.Blood cancer journal · 2022Article
- Clonal Hematopoiesis: Role in Hematologic and Non-Hematologic Malignancies.Mediterranean journal of hematology and infectious diseases · 2022Review
- When are idiopathic and clonal cytopenias of unknown significance (ICUS or CCUS)?Hematology. American Society of Hematology. Education Program · 2021Review
15 more citing papers are in PubMed but not listed here.
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The diagnosis of myelodysplastic syndromes (MDS) remains problematic due to the subjective nature of morphologic assessment. The reported high frequency of somatic mutations and increased structural variants by array-based cytogenetics have provided potential objective markers of disease; however, this has been complicated by reports of similar abnormalities in the healthy population. We aimed to identify distinguishing features between those with early MDS and reported healthy individuals by characterizing 69 patients who, following a nondiagnostic marrow, developed progressive dysplasia or acute myeloid leukemia. Targeted sequencing and array-based cytogenetics identified a driver mutation and/or structural variant in 91% (63/69) of prediagnostic samples with the mutational spectrum mirroring that in the MDS population. When compared with the reported healthy population, the mutations detected had significantly greater median variant allele fraction (40% vs 9% to 10%), and occurred more commonly with additional mutations (≥2 mutations, 64% vs 8%). Furthermore, mutational analysis identified a high-risk group of patients with a shorter time to disease progression and poorer overall survival. The mutational features in our cohort are distinct from those seen in the healthy population and, even in the absence of definitive disease, can predict outcome. Early detection may allow consideration of intervention in poor-risk patients.
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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.