SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value
Copyright policy )SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value
SF3B1 mutations were recently reported in myelodysplastic syndromes (MDSs), especially in the presence of ring sideroblasts (RSs). We sought to define the interaction between SF3B1 mutations, morphology, karyotype, and prognosis in MDS with more than or equal to 15% RS (MDS-RS). We studied 107 patients with MDS-RS, including 48 with refractory anemia with RS (RARS), 43 with refractory cytopenia with multilineage dysplasia (RCMD)-RS, 11 with refractory anemia with excess blasts-1 (RAEB1)–RS, and 5 with RAEB2-RS. SF3B1 mutations were detected in 53 (∼ 50%) patients: 35 RARS (73%), 16 RCMD-RS (37%), and 2 RAEB1-RS (18%). In univariate analysis, the presence of SF3B1 mutations was associated with better overall (P < .01) and leukemia-free (P < .01) survival; however, in both instances, significance was completely accounted for by World Health Organization morphologic risk categorization. In other words, when RARS and RCMD-RS were analyzed separately, there was no additional prognostic value from the presence or absence of SF3B1 mutations.
- The University of Texas System United States
- Mayo Clinic United States
- Dana-Farber Cancer Institute United States
- Harvard University United States
- The University of Texas MD Anderson Cancer Center United States
Adult, Aged, 80 and over, Male, Adolescent, Anemia, Refractory, DNA Mutational Analysis, Middle Aged, Ribonucleoprotein, U2 Small Nuclear, Phosphoproteins, Prognosis, Polymerase Chain Reaction, Anemia, Sideroblastic, Survival Rate, Myelodysplastic Syndromes, Mutation, Prevalence, Humans, Female, RNA Splicing Factors, Aged
Adult, Aged, 80 and over, Male, Adolescent, Anemia, Refractory, DNA Mutational Analysis, Middle Aged, Ribonucleoprotein, U2 Small Nuclear, Phosphoproteins, Prognosis, Polymerase Chain Reaction, Anemia, Sideroblastic, Survival Rate, Myelodysplastic Syndromes, Mutation, Prevalence, Humans, Female, RNA Splicing Factors, Aged
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