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

Blood. 2012 Nov 15;120(20):4168-71. doi: 10.1182/blood-2012-05-429696. Epub 2012 Sep 11.

Abstract

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.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • DNA Mutational Analysis
  • Disease-Free Survival
  • Female
  • Humans
  • Isocitrate Dehydrogenase / genetics*
  • Kaplan-Meier Estimate
  • Karyotyping
  • Male
  • Middle Aged
  • Mutation*
  • Nuclear Proteins / genetics*
  • Primary Myelofibrosis / genetics*
  • Primary Myelofibrosis / mortality
  • Primary Myelofibrosis / therapy
  • Prognosis
  • RNA Splicing / genetics
  • Ribonucleoproteins / genetics*
  • Serine-Arginine Splicing Factors
  • Severity of Illness Index
  • Survival Analysis

Substances

  • Nuclear Proteins
  • Ribonucleoproteins
  • SRSF2 protein, human
  • Serine-Arginine Splicing Factors
  • Isocitrate Dehydrogenase
  • IDH1 protein, human