Journal
LEUKEMIA RESEARCH
Volume 36, Issue 11, Pages 1428-1433Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.leukres.2012.08.015
Keywords
Myelodysplastic syndromes; Ring sideroblasts; SF3B1 gene; Mutation
Categories
Funding
- National Natural Science Funds [81070403]
- Tianjin Key Natural Science Funds [12JCZDJC23900]
- National Public Health Grand Research Foundation [201202017]
- National Science and Technology Major Project [2011ZX09302-007-04]
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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. (C) 2012 Elsevier Ltd. All rights reserved.
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