Analysis of genes encoding epigenetic regulators in myeloproliferative neoplasms: Coexistence of a novel mutation in a patient with a p.V617F positive myelofibrosis.

In recent years it has been shown that the causes of chronic myeloproliferative neoplasms (MPNs) are more complex than a simple signaling aberration and many other mutated genes affecting different cell processes have been described. For instance, mutations in genes encoding epigenetic regulators are more frequent than expected. One of the latest genes described as mutated is (). tools have revealed that there are several human paralogous to (), and , for example, which are also involved in the development of other hematological malignancies. Therefore, the present study analyzed the mutational status of and in negative MPNs with or without () p.V617F mutation. The present study revealed that the NSD genes are not frequently mutated in MPNs. However, a novel mutation was identified in a patient with p.V617F positive primary myelofibrosis. These results provide further insight into the genetic complexity of MPNs.