Since the discovery of spliceosome mutations in myeloid
malignancies, abnormal
pre-mRNA splicing, which has been well studied in various
cancers, has attracted novel interest in hematology. However, despite the common occurrence of spliceosome mutations in myelo-proliferative
neoplasms (MPN), not much is known regarding the characterization and mechanisms of splicing anomalies in MPN. In this article, we review the current scientific literature regarding "splicing and myeloproliferative
neoplasms". We first analyse the clinical series reporting spliceosome mutations in MPN and their clinical correlates. We then present the current knowledge about molecular mechanisms by which these mutations participate in the pathogenesis of MPN or other myeloid
malignancies. Beside spliceosome mutations, splicing anomalies have been described in myeloproliferative
neoplasms, as well as in
acute myeloid leukemias, a dreadful complication of these
chronic diseases. Based on splicing anomalies reported in
chronic myelogenous leukemia as well as in acute
leukemia, and the mechanisms presiding splicing deregulation, we propose that abnormal splicing plays a major role in the evolution of myeloproliferative
neoplasms and may be the target of specific therapeutic strategies.