ArticleHematology. American Society of Hematology. Education Program2021
Have we reached a molecular era in myelodysplastic syndromes?
Article in Hematology. American Society of Hematology. Education Program, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 28 citations in OpenAlex.
- IPSS-M outperforms IPSS-R in prognostic stratification and guides effective interventions for very High-Risk myelodysplastic syndrome patients undergoing allogeneic hematopoietic stem cell transplantation.Discover oncology · 2025Article
- Can molecular patterns help to classify overlapping entities in myeloid neoplasms?Histopathology · 2025Review
- Germline predisposition traits in allogeneic hematopoietic stem-cell transplantation for myelodysplastic syndromes: a survey-based study and position paper on behalf of the Chronic Malignancies Working Party of the EBMT.The Lancet. Haematology · 2023Review
- Applicability of 2022 classifications of acute myeloid leukemia in the real-world setting.Blood advances · 2023Article
- Molecular patterns identify distinct subclasses of myeloid neoplasia.Nature communications · 2023Article
- What's Next after Hypomethylating Agents Failure in Myeloid Neoplasms? A Rational Approach.Cancers · 2023Review
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- Article
- How I Manage Transplant Ineligible Patients with Myelodysplastic Neoplasms.Clinical hematology international · 2023Review
- Outcome prediction in myelodysplastic neoplasm undergoing hematopoietic cell transplant in the molecular era of IPSS-M.Leukemia · 2023Article
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- Risk stratifying MDS in the time of precision medicine.Hematology. American Society of Hematology. Education Program · 2022Article
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- Personalized Risk Schemes and Machine Learning to Empower Genomic Prognostication Models in Myelodysplastic Syndromes.International journal of molecular sciences · 2022Review
- A Novel Prognostic Scoring Model for Myelodysplastic Syndrome Patients WithFrontiers in oncology · 2022Article
- De Novo and Therapy-Related Myelodysplastic Syndromes: Analogies and Differences.Mediterranean journal of hematology and infectious diseases · 2022Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myelodysplastic syndromes (MDS) are characterized by heterogeneous biological and clinical characteristics, leading to variable outcomes. The availability of sophisticated platforms of genome sequencing allowed the discovery of recurrently mutated genes, which have led to a new era in MDS. This is reflected by the 2016 update of the World Health Organization classification, in which the criteria to define MDS with ringed sideroblasts include the presence of SF3B1 mutations. Further, the detection of somatic mutations in myeloid genes at high variant allele frequency guides the diagnostic algorithm in cases with cytopenias, unclear dysplastic changes, and normal karyotypes, supporting MDS over alternative diagnoses. SF3B1 mutations have been shown to play a positive prognostic role, while mutations in ASXL1, EZH2, RUNX1, and TP53 have been associated with a dismal prognosis. This is particularly relevant in lower- and intermediate-risk disease, in which a higher number of mutations and/or the presence of "unfavorable" somatic mutations may support the use of disease-modifying treatments. In the near future, the incorporation of mutation profiles in currently used prognostication systems, also taking into consideration the classical patient clinical variables (including age and comorbidities), will support a more precise disease stratification, eg, the assignment to targeted treatment approaches or to allogeneic stem cell transplantation in younger patients.
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Registered trials
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