Spliceosome mutations involving SRSF2, SF3B1, and U2AF35 in chronic myelomonocytic leukemia: prevalence, clinical correlates, and prognostic relevance.

@article{Patnaik2013SpliceosomeMI,
  title={Spliceosome mutations involving SRSF2, SF3B1, and U2AF35 in chronic myelomonocytic leukemia: prevalence, clinical correlates, and prognostic relevance.},
  author={Mrinal S Patnaik and Terra L. Lasho and Christy M. Finke and Curtis A. Hanson and Janice M Hodnefield and Ryan A. Knudson and Rhett P. Ketterling and Animesh Pardanani and Ayalew Tefferi},
  journal={American journal of hematology},
  year={2013},
  volume={88 3},
  pages={201-6}
}
SRSF2, SF3B1, and U2AF35 (U2AF1) are the three most frequent genes involved with spliceosome mutations in myeloid malignancies. SF3B1 mutations are most frequent (~80%) in myelodysplastic syndromes (MDS) with ring sideroblasts (RS) but lack prognostic relevance. SRSF2 mutations are associated with shortened overall (OS) and leukemia-free survival (LFS) in both MDS and myelofibrosis. In this study of 226 patients with chronic myelomonocytic leukemia (CMML), mutational frequencies were 40% for… CONTINUE READING

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