Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis.

  title={Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis.},
  author={Hideki Makishima and V Visconte and Hirotoshi Sakaguchi and Anna M. Jankowska and Sarah M Abu Kar and Andr{\'e}s Jerez and Bartlomiej Przychodzen and Manoj Kumar Bupathi and Kathryn M Guinta and Manuel G. Afable and Mikkael A. Sekeres and Richard A. Padgett and Ram{\'o}n V. Tiu and Jaroslaw Maciejewski},
  volume={119 14},
Myelodysplastic syndromes (MDSs) are chronic and often progressive myeloid neoplasms associated with remarkable heterogeneity in the histomorphology and clinical course. Various somatic mutations are involved in the pathogenesis of MDS. Recently, mutations in a gene encoding a spliceosomal protein, SF3B1, were discovered in a distinct form of MDS with ring sideroblasts. Whole exome sequencing of 15 patients with myeloid neoplasms was performed, and somatic mutations in spliceosomal genes were… CONTINUE READING
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