U2AF1 mutations in primary myelofibrosis are strongly associated with anemia and thrombocytopenia despite clustering with JAK2V617F and normal karyotype

@article{Tefferi2014U2AF1MI,
  title={U2AF1 mutations in primary myelofibrosis are strongly associated with anemia and thrombocytopenia despite clustering with JAK2V617F and normal karyotype},
  author={Ayalew Tefferi and Christy M. Finke and Terra L. Lasho and Emnet A Wassie and Ryan A. Knudson and Rhett P. Ketterling and Curtis A. Hanson and Animesh Pardanani},
  journal={Leukemia},
  year={2014},
  volume={28},
  pages={431-433}
}
Spliceosome pathway mutations, including SF3B1, SRSF2, U2AF1(U2AF35) and ZRSR2, are recurrent in myeloid malignancies; the highest reported frequencies were 85% for myelodysplastic syndromes associated with ring sideroblasts (MDS-RS), 44% for MDS without RS and 55% for chronic myelomonocytic leukemia (CMML). SF3B1 mutations were the most frequent (75%) in MDS-RS and SRSF2 mutations in CMML (28%); U2AF1 mutational frequencies were 12% in MDS without RS and 8% in CMML. We have previously… CONTINUE READING