SRSF2 mutations in primary myelofibrosis: Significant clustering with IDH mutations and independent association with inferior overall and leukemia-free survival

Terra L. Lasho, Thitina Jimma, Christy M. Finke, Mrinal Patnaik, Curtis A. Hanson, Rhett P. Ketterling, Animesh Pardanani, Ayalew Tefferi

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108 Scopus citations


Among spliceosome component mutations, those involving SF3B1 are most frequent in myelodysplastic syndromes with ring sideroblasts (MDS-RS; ∼75% incidence) and SRSF2 in chronic myelomonocytic leukemia (∼28% incidence). We recently reported on the lack of prognostic significance for SF3B1 mutations in both MDS-RS and primary myelofibrosis (PMF). In the current study, we examined the prevalence and prognostic relevance of SRSF2 mutations in PMF. Among 187 patients screened, 32 (17%) harbored SRSF2 monoallelic mutations affecting residue P95. Significant associations were demonstrated between SRSF2 mutations and advanced age (P < .01), IDH mutations (P < .01), and higher DIPSS-plus risk category (P = .03). SRSF2 mutations were associated with shortened overall (P < .01) and leukemia-free (P < .01) survival; the adverse effect on survival was independent of DIPSS-plus (P = .01; HR = 1.9; 95% CI, 1.1-3.0) and IDH mutations (P < .01; HR = 2.3; 95% CI, 1.4-3.8). In conclusion, SRSF2 mutations are relatively common in PMF, cluster with IDH mutations, and are independently predictive of poor outcome.

Original languageEnglish (US)
Pages (from-to)4168-4171
Number of pages4
Issue number20
StatePublished - Nov 15 2012


ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

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