SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value

Mrinal M. Patnaik, Terra L. Lasho, Janice M. Hodnefield, Ryan A. Knudson, Rhett P. Ketterling, Guillermo Garcia-Manero, David P. Steensma, Animesh Pardanani, Curtis A. Hanson and Ayalew Tefferi


SF3B1 mutations were recently reported in myelodysplastic syndromes (MDS), especially in the presence of ring sideroblasts (RS). We sought to define the interaction between SF3B1 mutations, morphology, karyotype, and prognosis in MDS with ≥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<0.01) and leukemia-free (p<0.01) survival; however, in both instances, significance was completely accounted for by WHO 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.

  • Submitted September 8, 2011.
  • Accepted November 13, 2011.