ArticleCancer medicine2021
Clinical significance of cytogenetic and molecular genetic abnormalities in 634 Chinese patients with myelodysplastic syndromes.
Article in Cancer medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 2 of them syntheses that pooled it.
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11 citing papers in PubMed, 2 syntheses or guidelines pooled it, 11 citations in OpenAlex.
- Association of Somatic Gene Mutations with Risk of Transformation into Acute Myeloid Leukemia in Patients with Myelodysplastic Syndrome: A Systematic Review and Meta-Analysis.Asian Pacific journal of cancer prevention : APJCP · 2022Pooled it
- Effect of RAS Pathway Gene Mutations on Survival in Myelodysplastic Syndrome: A Systematic Review and Meta-Analysis.Cancer control : journal of the Moffitt Cancer CenterPooled it
- [Chinese expert consensus on the clinical application of next-generation sequencing technology in myelodysplastic neoplasms (2026)].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2026Article
- Reduced STAG2 expression in myelodysplastic neoplasms and acute myeloid leukemia myelodysplasia-related: a potential biomarker associated with aneuploidy and disease progression.Frontiers in cell and developmental biology · 2026Article
- Cytogenetic Abnormalities in Pediatric Myelodysplastic Syndrome: Insights on the Disease Biology and Impact on Leukemic Evolution.Biomedicines · 2025Article
- Clinical features and outcomes of myelodysplastic syndrome patients with iron overload: a single-center retrospective study.European journal of medical research · 2025Article
- [Differences in clinical and laboratory features and survival between Chinese and Western patients with myelodysplastic neoplasm].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2025Article
- Impact of ASXL1 Gene Alterations on Myelodysplastic Syndrome With Isolated 20q Deletion.Cancer medicine · 2025Article
- Research and analysis of differential gene expression in CD34 hematopoietic stem cells in myelodysplastic syndromes.PloS one · 2025Article
- Higher prevalence of poor prognostic markers at a younger age in adult patients with myelodysplastic syndrome - evaluation of a large cohort in India.Molecular cytogenetics · 2024Article
- Impact of IPSS-M implementation in real-life clinical practice.Frontiers in oncology · 2023Article
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17 authors at 3 institutions in 1 country.
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Abstract
purposeTo explore the relevance of cytogenetic or molecular genetic abnormalities to clinical variables, including clinical and laboratory characteristics and prognosis in Chinese patients with myelodysplastic syndromes (MDS).
methodsA total of 634 consecutive patients diagnosed with MDS at The First Affiliated Hospital, Zhejiang University School of Medicine from June 2008 to May 2018 were retrospectively included in this study. All patients had evaluable cytogenetic analysis, and 425 patients had MDS-related mutations sequencing.
results38.6% of patients displayed abnormal karyotypes. The most common cytogenetic abnormality was +8 (31%). Sole +8 was related to female (p = 0.002), hemoglobin >10 g/dL (p = 0.03), and <60 years old (p = 0.046). TP53 mutations were associated with complex karyotype (CK) (p < 0.001). DNMT3A mutations correlated with -Y (p = 0.01) whereas NRAS mutations correlated with 20q- (p = 0.04). The overall survival (OS) was significantly inferior in patients with +8 compared with those with normal karyotype (NK) (p = 0.003). However, the OS of sole +8 and +8 with one additional karyotypic abnormality was not different from NK (p = 0.16), but +8 with two or more abnormalities had a significantly shorter OS than +8 and +8 with one additional karyotypic abnormality (p = 0.02). In multivariable analysis, ≥60 years old, marrow blasts ≥5% and TP53 mutations were independent predictors for poor OS (p < 0.05), whereas SF3B1 mutations indicated better prognosis. Male IDH1 and IDH2 mutations and marrow blasts ≥5% were independent risk factors for worse leukemia free survival (LFS) (p < 0.05).
conclusionIn this population of Chinese patients, trisomy 8 is the most common karyotypic abnormality. Patients with +8 showed a poorer OS compared with patients with NK. Sole +8 and +8 with one additional karyotypic abnormality had similar OS with NK, whereas +8 with two or more abnormalities had a significantly shorter OS. DNMT3A mutations correlated with -Y and NRAS mutations correlated with 20q-. TP53 mutations were associated with CK and had a poor OS. SF3B1 mutations indicated a favorable OS. IDH1 and IDH2 mutations independently indicated inferior LFS.
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