Progress in Hematology Epigenetics of hematopoiesis and hematopoietic malignancies

International Journal of Hematology

, Volume 96, Issue 4, pp 438-442

First online:

Splicing factor mutations in myelodysplasia

  • Seishi OgawaAffiliated withCancer Genomics Project, Graduate School of Medicine, The University of Tokyo Email author 


Myelodysplastic syndromes (MDS) and related myeloid neoplasms are a heterogeneous group of myeloid neoplasms, which frequently terminate in acute myeloid leukemia (AML). During the past decade, a number of gene mutations have been identified in MDS. However, the spectrum of these mutations overlaps largely with that in AML, complicating the understanding of MDS-specific pathogenesis that discriminates MDS from AML. Recently, several groups reported frequent mutations of multiple components of the RNA splicing machinery in MDS and related disorders. Largely specific to myelodysplastic phenotypes, these splicing factor mutations provide a potential clue to better understanding of the pathogenesis of MDS.


SF3B1 U2AF35 SRSF2 ZRSR2 RNA splicing MDS