Table 2

Recent studies on the prognostic relevance of SF3B1 mutations in patients with MDS

StudyNo. of patients studied for clinical outcomeSurvival analysisPrognostic relevance of SF3B1 mutation
Malcovati et al26  323 MDS patients with various WHO subtypes Survival analyses were performed with the Kaplan-Meier method. Comparison between survival curves was carried out by the Wilcoxon test and multivariate survival analyses were performed by Cox proportional hazards regression. These latter analyses accounted for left censoring of the observations at the time of mutation assessment, and for right censoring of the observations at the time of potentially disease-modifying treatment. Patients carrying an SF3B1 mutation showed a significantly better overall survival compared with those without mutation. The significant value of SF3B1 mutation was retained in a multivariate analysis including age, sex, hemoglobin level, absolute neutrophil count, platelet count, cytogenetic risk, BM blasts, and ring sideroblasts. Patients with the SF3B1 mutation showed a significantly better leukemia-free survival than those without mutation and this was confirmed in multivariate analysis. The SF3B1 mutation status remained an independent predictor of better survival even after adjustment for IPSS risk, whereas its significance was borderline after adjustment for WPSS risk. 
Patnaik et al27  107 MDS patients, all with ring sideroblasts: 48 RARS, 43 with RCMD-RS, and 11 with excess of blasts and 15% or more ring sideroblasts Survival analyses were performed with the Kaplan-Meier method and multivariate survival analyses were performed by Cox proportional hazards regression. In univariate analysis, the presence of SF3B1 mutations was significantly associated with better overall and leukemia-free survival. In multivariate analysis, only age, transfusion dependence, and IPSS risk retained independent prognostic relevance. 
Makishima et al28  88 MDS and 66 MDS/MPN patients Survival analyses were performed with the Kaplan-Meier method. The presence of SF3B1 mutations was associated with longer survival in univariate analysis. 
Damm et al29  221 patients with MDS or MDS/MPN Overall survival end points, measured from the date of diagnosis, were death (failure) and alive at last follow-up (censored). There was no survival difference between patients with and those without SF3B1 mutation. 
Thol et al30  193 MDS patients Overall survival end points, measured from the date of first sample collection, were death (failure) and alive at last follow-up (censored). SF3B1 mutations did not represent an independent prognostic factor. 
Bejar et al31  288 patients with lower-risk MDS Overall survival was calculated from the time of sample collection to the time of death from any cause. SF3B1 mutations showed a non significant trend toward longer survival. 
StudyNo. of patients studied for clinical outcomeSurvival analysisPrognostic relevance of SF3B1 mutation
Malcovati et al26  323 MDS patients with various WHO subtypes Survival analyses were performed with the Kaplan-Meier method. Comparison between survival curves was carried out by the Wilcoxon test and multivariate survival analyses were performed by Cox proportional hazards regression. These latter analyses accounted for left censoring of the observations at the time of mutation assessment, and for right censoring of the observations at the time of potentially disease-modifying treatment. Patients carrying an SF3B1 mutation showed a significantly better overall survival compared with those without mutation. The significant value of SF3B1 mutation was retained in a multivariate analysis including age, sex, hemoglobin level, absolute neutrophil count, platelet count, cytogenetic risk, BM blasts, and ring sideroblasts. Patients with the SF3B1 mutation showed a significantly better leukemia-free survival than those without mutation and this was confirmed in multivariate analysis. The SF3B1 mutation status remained an independent predictor of better survival even after adjustment for IPSS risk, whereas its significance was borderline after adjustment for WPSS risk. 
Patnaik et al27  107 MDS patients, all with ring sideroblasts: 48 RARS, 43 with RCMD-RS, and 11 with excess of blasts and 15% or more ring sideroblasts Survival analyses were performed with the Kaplan-Meier method and multivariate survival analyses were performed by Cox proportional hazards regression. In univariate analysis, the presence of SF3B1 mutations was significantly associated with better overall and leukemia-free survival. In multivariate analysis, only age, transfusion dependence, and IPSS risk retained independent prognostic relevance. 
Makishima et al28  88 MDS and 66 MDS/MPN patients Survival analyses were performed with the Kaplan-Meier method. The presence of SF3B1 mutations was associated with longer survival in univariate analysis. 
Damm et al29  221 patients with MDS or MDS/MPN Overall survival end points, measured from the date of diagnosis, were death (failure) and alive at last follow-up (censored). There was no survival difference between patients with and those without SF3B1 mutation. 
Thol et al30  193 MDS patients Overall survival end points, measured from the date of first sample collection, were death (failure) and alive at last follow-up (censored). SF3B1 mutations did not represent an independent prognostic factor. 
Bejar et al31  288 patients with lower-risk MDS Overall survival was calculated from the time of sample collection to the time of death from any cause. SF3B1 mutations showed a non significant trend toward longer survival. 

RCMD-RS indicates refractory cytopenia with multilineage dysplasia and ring sideroblasts.

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