Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis

Leukemia. 2013 Sep;27(9):1826-31. doi: 10.1038/leu.2013.120. Epub 2013 Apr 18.

Abstract

Refractory anaemia with ring sideroblasts (RARS) and marked thrombocytosis (RARS-T) is a provisional entity in the World Health Organisation 2008 classification and has previously been shown to have a high proportion of JAK2(V617F) (Janus Kinase 2) and SF3B1 (Splicing Factor 3B subunit 1) mutations. The purpose of the present study was to analyse the frequency of SF3B1 mutations in a large cohort of 111 patients with RARS-T and 33 patients with RARS and to explore the prognostic impact of SF3B1 mutational status on RARS-T. The frequency of SF3B1 mutations in RARS-T (96/111, 86.5%) and RARS (28/33, 84.8%) was similar. In RARS-T, median survival was better in SF3B1-mutated patients than in SF3B1-non-mutated patients (6.9 and 3.3 years, respectively, P=0.003). RARS can be differentiated from RARS-T by the frequency of JAK2(V617F) (0% vs 48.6%). In RARS-T patients, SF3B1 (P=0.021) and JAK2 mutations (P=0.016) were independent factors for a better prognosis. Altogether, our results confirm that RARS-T is an independent entity that should be recognised by the next World Health Organisation classification. The assessment of SF3B1 mutations is of prognostic interest in RARS-T patients. Younger age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in RARS-T.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age Factors
  • Aged
  • Aged, 80 and over
  • Anemia, Refractory / complications
  • Anemia, Refractory / diagnosis
  • Anemia, Refractory / genetics*
  • Anemia, Refractory / mortality*
  • Anemia, Sideroblastic / complications
  • Chromosome Mapping
  • Female
  • Humans
  • Janus Kinase 2 / genetics*
  • Karyotype
  • Male
  • Middle Aged
  • Mutation Rate
  • Mutation*
  • Phosphoproteins / genetics*
  • Prognosis
  • RNA Splicing Factors
  • Ribonucleoprotein, U2 Small Nuclear / genetics*
  • Thrombocytosis / complications
  • Young Adult

Substances

  • Phosphoproteins
  • RNA Splicing Factors
  • Ribonucleoprotein, U2 Small Nuclear
  • SF3B1 protein, human
  • Janus Kinase 2