Refractory anemia with ring sideroblasts and marked thrombocytosis cases harbor mutations in SF3B1 or other spliceosome genes accompanied by JAK2V617F and ASXL1 mutations

Haematologica. 2015 Apr;100(4):e125-7. doi: 10.3324/haematol.2014.119032. Epub 2014 Dec 19.
No abstract available

Keywords: MDS; MPN; mutation; myeloid; ring sideroblasts; spliceosome.

Publication types

  • Letter

MeSH terms

  • Anemia, Refractory / diagnosis*
  • Anemia, Refractory / genetics*
  • Erythrocytes, Abnormal / pathology*
  • Humans
  • Janus Kinase 2 / genetics*
  • Mutation
  • Phosphoproteins / genetics*
  • RNA Splicing Factors
  • Repressor Proteins / genetics*
  • Ribonucleoprotein, U2 Small Nuclear / genetics*
  • Spliceosomes / genetics*
  • Thrombocytosis / genetics*

Substances

  • ASXL1 protein, human
  • Phosphoproteins
  • RNA Splicing Factors
  • Repressor Proteins
  • Ribonucleoprotein, U2 Small Nuclear
  • SF3B1 protein, human
  • Janus Kinase 2