ArticleBMC cancer2015
The prognostic impact of mutations in spliceosomal genes for myelodysplastic syndrome patients without ring sideroblasts.
Article in BMC cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 4 of them syntheses that pooled it.
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15 citing papers in PubMed, 4 syntheses or guidelines pooled it, 27 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
- 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
- Biological relevance of alternative splicing in hematologic malignancies.Molecular medicine (Cambridge, Mass.) · 2024Review
- Clinical and prognostic profile of SRSF2 and related spliceosome mutations in patients with acute myeloid leukemia.Molecular biology reports · 2023Article
- Incidence and prognostic impact of U2AF1 mutations and other gene alterations in myelodysplastic neoplasms with isolated 20q deletion.Cancer medicine · 2023Article
- PHF5A as a new OncoTarget and therapeutic prospects.Heliyon · 2023Review
- The Biological and Clinical Consequences of RNA Splicing Factor U2AF1 Mutation in Myeloid Malignancies.Cancers · 2022Review
- Prognosis in Myelodysplastic Syndromes: The Clinical Challenge of Genomic Integration.Journal of clinical medicine · 2021Review
- Roles and mechanisms of alternative splicing in cancer - implications for care.Nature reviews. Clinical oncology · 2020Review
- Alteration of SF3B1 and SRSF2 Genes in Myelodysplastic Syndromes Patients in Upper Northern ThailandAsian Pacific journal of cancer prevention : APJCP · 2019Article
- [Mutational analysis of RNA splicing machinery genes SF3B1, U2AF1 and SRSF2 in 118 patients with myelodysplastic syndromes and related diseases].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2017Article
- Review
- Co-mutation ofIn vivo (Athens, Greece)Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in genes that are part of the splicing machinery for myelodysplastic syndromes (MDS), including MDS without ring sideroblasts (RS), have been widely investigated. The effects of these mutations on clinical outcomes have been diverse and contrasting.
methodsWe examined a cohort of 129 de novo MDS patients, who did not harbor RS, for mutations affecting three spliceosomal genes (SF3B1, U2AF1, and SRSF2).
resultsThe mutation rates of SF3B1, U2AF1, and SRSF2 were 7.0 %, 7.8 %, and 10.1 %, respectively. Compared with previously reported results, these rates were relatively infrequent. The SRSF2 mutation strongly correlated with old age (P < 0.001), while the mutation status of SF3B1 did not affect overall survival (OS), progression-free survival (PFS), or acute myeloid leukemia (AML) transformation. In contrast, MDS patients with mutations in U2AF1 or SRSF2 exhibited inferior PFS. The U2AF1 mutation was associated with inferior OS in low-risk MDS patients (P = 0.035). The SRSF2 mutation was somewhat associated with AML transformation (P = 0.083).
conclusionOur findings suggest that the frequencies of the SF3B1, U2AF1, and SRSF2 splicing gene mutations in MDS without RS were relatively low. We also demonstrated that the U2AF1 and SRSF2 mutations were associated with an unfavorable prognostic impact in MDS patients without RS.
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