ArticleTumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine2016
Genetic landscape of recurrent ASXL1, U2AF1, SF3B1, SRSF2, and EZH2 mutations in 304 Chinese patients with myelodysplastic syndromes.
Article in Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 4 of them syntheses that pooled it.
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Who cites it
29 citing papers in PubMed, 4 syntheses or guidelines pooled it, 49 citations in OpenAlex.
- Effect of enhancer of zeste homolog 2 mutations on the prognosis of patients with myelodysplastic syndrome: A meta-analysis.Medicine · 2020Pooled it
- Prognostic significance ofThe Journal of international medical research · 2020Pooled it
- Effect of RNA splicing machinery gene mutations on prognosis of patients with MDS: A meta-analysis.Medicine · 2019Pooled it
- Prognostic value of SRSF2 mutations in patients with de novo myelodysplastic syndromes: A meta-analysis.PloS one · 2017Pooled it
- Clinical presentation and differential splicing of SRSF2, U2AF1 and SF3B1 mutations in patients with acute myeloid leukemia.Leukemia · 2020Trial
- RNA splicing in health and disease.Molecular biomedicine · 2026Review
- Saikosaponin‑D triggers cancer cell death by targeting the PIM1/c-Myc axis to reprogram oncogenic alternative splicing.Cell death discovery · 2025Article
- Revealing the role of U2AF1 in splicing regulation and chimeric RNA dynamics.Scientific reports · 2025Article
- Distinct mutation features and its clinical significance in myelodysplastic syndromes with normal karyotype.Annals of hematology · 2024Article
- Article
- Evaluation of new IPSS-Molecular model and comparison of different prognostic systems in patients with myelodysplastic syndrome.Blood science (Baltimore, Md.) · 2023Article
- SF3B1 mutations in myelodysplastic syndromes: A potential therapeutic target for modulating the entire disease process.Frontiers in oncology · 2023Review
- The Biological and Clinical Consequences of RNA Splicing Factor U2AF1 Mutation in Myeloid Malignancies.Cancers · 2022Review
- Immunohistochemical loss of enhancer of Zeste Homolog 2 (EZH2) protein expression correlates with EZH2 alterations and portends a worse outcome in myelodysplastic syndromes.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- U2AF1 mutation promotes tumorigenicity through facilitating autophagy flux mediated by FOXO3a activation in myelodysplastic syndromes.Cell death & disease · 2021Article
- Gene mutation spectrum of patients with myelodysplastic syndrome and progression to acute myeloid leukemia.International journal of hematologic oncology · 2021Article
- Clinical significance of cytogenetic and molecular genetic abnormalities in 634 Chinese patients with myelodysplastic syndromes.Cancer medicine · 2021Article
- Cytogenetic characteristics of 665 patients with myelodysplastic syndrome in China: A single-center report.Oncology letters · 2021Article
- Splicing factor SRSF2-centric gene regulation.International journal of biological sciences · 2021Review
- Differential U2AF1 mutation sites, burden and co-mutation genes can predict prognosis in patients with myelodysplastic syndrome.Scientific reports · 2020Article
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We determined the biological and prognostic significance of five recurrent genetic aberrations in Chinese patients with myelodysplastic syndromes (MDS). A total of 304 Chinese MDS patients were screened for known mutations in five genes (ASXL1, U2AF1, SF3B1, SRSF2, and EZH2) using next-generation sequencing. Of these, 97 patients (31.9 %) harbored at least one mutation in the five genes, and patients harboring these mutations had distinct clinical features. Incidence ratios for mutations in ASXL1, U2AF1, SF3B1, SRSF2, and EZH2 were 11.8, 8.6, 8.2, 4.3, and 3.6 %, respectively. Patients with U2AF1, SRSF2, and EZH2 mutations more commonly had high-risk than low-risk subtypes, while SF3B1 mutations were frequently confirmed in MDS subtypes with increased ring sideroblasts. Cases with ASXL1 mutations had a higher percentage of complex karyotypes, while U2AF1 mutations were more common in patients with trisomy 8 or 20q deletions. Notably, among 124 patients with a normal karyotype, 48 (38.7 %) had at least one mutation. Patients with U2AF1 or SRSF2 mutations had significantly shorter overall survival (OS) times compared with patients without these mutations (U2AF1 mutations: median OS, 18 vs 54 months, p = 0.032; SRSF2 mutations: median OS 11 vs 54 months, p = 0.005, respectively). Multivariate analysis showed that the presence of SRSF2 mutations was an independent unfavorable prognostic factor for OS (hazard ratio 2.039; 95 % confidence interval 1.040-4.000; p = 0.038). These data suggest that mutations in epigenetic modification and splicesome genes are common in Chinese patients with MDS, while mutations in U2AF1 and SRSF2 appear to predict an unfavorable prognosis.
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