title: SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value.
abstract: 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.
authors.affiliation: Division of Hematology, Mayo Clinic, Rochester, MN 55905, USA.
authors.forename: Mrinal M
authors.initials: MM
authors.lastname: Patnaik
authors.forename: Terra L
authors.initials: TL
authors.lastname: Lasho
authors.forename: Janice M
authors.initials: JM
authors.lastname: Hodnefield
authors.forename: Ryan A
authors.initials: RA
authors.lastname: Knudson
authors.forename: Rhett P
authors.initials: RP
authors.lastname: Ketterling
authors.forename: Guillermo
authors.initials: G
authors.lastname: Garcia-Manero
authors.forename: David P
authors.initials: DP
authors.lastname: Steensma
authors.forename: Animesh
authors.initials: A
authors.lastname: Pardanani
authors.forename: Curtis A
authors.initials: CA
authors.lastname: Hanson
authors.forename: Ayalew
authors.initials: A
authors.lastname: Tefferi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000753:Anemia, Refractory / Q000453:epidemiology / Q000235:genetics* / Q000401:mortality; D000756:Anemia, Sideroblastic / Q000453:epidemiology / Q000235:genetics* / Q000401:mortality; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009190:Myelodysplastic Syndromes / Q000453:epidemiology / Q000235:genetics* / Q000401:mortality; D010750:Phosphoproteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D015995:Prevalence; D011379:Prognosis; D000072260:RNA Splicing Factors; D017413:Ribonucleoprotein, U2 Small Nuclear / Q000235:genetics*; D015996:Survival Rate; D055815:Young Adult
chemical_list: D010750:Phosphoproteins; D000072260:RNA Splicing Factors; D017413:Ribonucleoprotein, U2 Small Nuclear; C112491:SF3B1 protein, human
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