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Splicing Anomalies in Myeloproliferative Neoplasms: Paving the Way for New Therapeutic Venues

Inserm, Univ Brest, EFS, UMR 1078, GGB, F-29200 Brest, France
Laboratoire d’Hématologie, CHU de Brest, F-29200 Brest, France
Author to whom correspondence should be addressed.
Cancers 2020, 12(8), 2216;
Received: 30 June 2020 / Revised: 30 July 2020 / Accepted: 5 August 2020 / Published: 7 August 2020
(This article belongs to the Special Issue New Insights into Myeloproliferative Neoplasms)
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. View Full-Text
Keywords: splicing; myeloproliferative neoplasm; epigenetic splicing; myeloproliferative neoplasm; epigenetic
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Hautin, M.; Mornet, C.; Chauveau, A.; Bernard, D.; Corcos, L.; Lippert, E. Splicing Anomalies in Myeloproliferative Neoplasms: Paving the Way for New Therapeutic Venues. Cancers 2020, 12, 2216.

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