ArticleCancer science2020
Mutation status and burden can improve prognostic prediction of patients with lower-risk myelodysplastic syndromes.
Article in Cancer science, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Comparison and Implications of Mutational Profiles of Myelodysplastic Syndromes, Myeloproliferative Neoplasms, and Myelodysplastic/Myeloproliferative Neoplasms: A Meta-Analysis.Frontiers in oncology · 2020Pooled it
- Molecular characterization and improved risk stratification of myelodysplastic syndromes with bone marrow fibrosis through integration of TP53 and MPL mutations.Discover oncology · 2026Article
- [Application of the variant allele frequency of myeloid-associated gene mutations in myelodysplastic syndrome].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2025Review
- The molecular profile in patients with polycythemia vera and essential thrombocythemia is dynamic and correlates with disease's phenotype.Frontiers in oncology · 2023Article
- IPSS-M has greater survival predictive accuracy compared with IPSS-R in persons ≥ 60 years with myelodysplastic syndromes.Experimental hematology & oncology · 2022Article
- [Prognostic significance red blood cell distribution width in myelodysplastic syndromes].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2022Article
- Cytogenetic and Genetic Abnormalities with Diagnostic Value in Myelodysplastic Syndromes (MDS): Focus on the Pre-Messenger RNA Splicing Process.Diagnostics (Basel, Switzerland) · 2022Review
- Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes.Scientific reports · 2022Article
- Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes.Scientific reports · 2022Article
- Predictive values of mutational variant allele frequency in overall survival and leukemic progression of myelodysplastic syndromes.Journal of cancer research and clinical oncology · 2022Article
- The spectrum of genetic mutations in myelodysplastic syndrome: Should we update prognostication?EJHaem · 2022Review
- Low-Risk Myelodysplastic Syndrome Revisited: Morphological, Autoimmune, and Molecular Features as Predictors of Outcome in a Single Center Experience.Frontiers in oncology · 2022Article
- Review
- Sex-Related Differences in Chronic Myeloid Neoplasms: From the Clinical Observation to the Underlying Biology.International journal of molecular sciences · 2021Review
- Clinical significance of cytogenetic and molecular genetic abnormalities in 634 Chinese patients with myelodysplastic syndromes.Cancer medicine · 2021Article
- Lower-dose decitabine improves clinical response compared with best supportive care in lower-risk MDS patients: a prospective, multicenter phase 2 study.Journal of Cancer · 2021Article
- Differential U2AF1 mutation sites, burden and co-mutation genes can predict prognosis in patients with myelodysplastic syndrome.Scientific reports · 2020Article
- Review
- Mutation status and burden can improve prognostic prediction of patients with lower-risk myelodysplastic syndromes.Cancer science · 2020Article
- Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.American journal of cancer research · 2020Article
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Authors and funding
17 authors at 1 institution in 1 country.
Funding
Abstract
Patients with lower-risk myelodysplastic syndromes (LR-MDS) as defined by the International Prognostic Scoring System (IPSS) have more favorable prognosis in general, but significant inter-individual heterogeneity exists. In this study, we examined the molecular profile of 15 MDS-relevant genes in 159 patients with LR-MDS using next-generation sequencing. In univariate COX regression, shorter overall survival (OS) was associated with mutation status of ASXL1 (P = .001), RUNX1 (P = .031), EZH2 (P = .049), TP53 (P = .016), SRSF2 (P = .046), JAK2 (P = .040), and IDH2 (P = .035). We also found significantly shorter OS in patients with an adjusted TET2 variant allele frequency (VAF) ≥18% versus those with either an adjusted TET2 VAF <18% or without TET2 mutations (median: 20.4 vs 47.8 months; P = .020; HR = 2.183, 95%CI: 1.129-4.224). After adjustment for IPSS, shorter OS was associated with mutation status of ASXL1 (P < .001; HR = 4.306, 95% CI: 2.144-8.650), TP53 (P = .004; HR = 4.863, 95% CI: 1.662-14.230) and JAK2 (P = .002; HR = 5.466, 95%CI: 1.848-16.169), as well as adjusted TET2 VAF ≥18% (P = .008; HR = 2.492, 95% CI: 1.273-4.876). Also, OS was increasingly shorter as the number of mutational factors increased (P < .001). A novel prognostic scoring system incorporating the presence/absence of the four independent mutational factors into the IPSS further stratified LR-MDS patients into three prognostically different groups (P < .001). The newly developed scoring system redefined 10.1% (16/159) of patients as a higher-risk group, who could not be predicted by the currently prognostic models. In conclusion, integration of the IPSS with mutation status/burden of certain MDS-relevant genes may improve the prognostication of patients with LR-MDS and could help identify those with worse-than-expected prognosis for more aggressive treatment.
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