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Recent studies report SF3B1 mutations in about 20% of persons of European descent with myelodysplastic syndromes (MDS). Mutations are especially common in persons with ring sideroblasts (RS). SF3B1 mutation state was determined in 104 Chinese with MDS-RS. SF3B1 mutations were found in 55 subjects (53%) including 25 of 39 with refractory anemia and RS (RARS), 26 of 45 (58%) of those with refractory cytopenia with multi-lineage dysplasia and RS (RCMD-RS), 3 of 6 with refractory anemia with excess blasts-1-RS (RAEB1-RS) and 1 of 14 with RAEB2-RS. There were significant correlations between SF3B1 mutation state and platelet levels (P=0.007), mean RBC corpuscular volume (MCV; (P<0.001), proportion of RS (P<0.001) and percent bone marrow erythroblasts (P=0.012) and myeloblasts (P=0.044). Multivariate analyses using a Cox proportional hazards regression model including sex, age, SF3B1 mutation state, hemoglobin concentration, absolute neutrophil level, platelet level, MCV, international prognostic scoring system (IPSS) cytogenetics category, WHO morphologic category and treatment showed SF3B1 mutation state to independently predict survival. These data increase our knowledge of the impact of SF3B1 mutations in persons with MDS. They indicate a similar favorable impact of SF3B1 mutation on survival in Chinese with MDS as reported for persons of European descent. Copyright © 2012 Elsevier Ltd. All rights reserved.


Rui Cui, Robert Peter Gale, Zefeng Xu, Tiejun Qin, Liwei Fang, Hongli Zhang, Lijuan Pan, Yue Zhang, Zhijian Xiao. Clinical importance of SF3B1 mutations in Chinese with myelodysplastic syndromes with ring sideroblasts. Leukemia research. 2012 Nov;36(11):1428-33

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PMID: 22921018

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