Analysis of genes encoding epigenetic regulators in myeloproliferative neoplasms: Coexistence of a novel SETBP1 mutation in a patient with a p.V617F JAK2 positive myelofibrosis

  • Authors:
    • Laura Eder‑Azanza
    • Cristina Hurtado
    • David Navarro‑Herrera
    • Diego Calavia
    • Francisco Javier Novo
    • José Luis Vizmanos
  • View Affiliations

  • Published online on: April 8, 2019     https://doi.org/10.3892/mco.2019.1840
  • Pages: 639-643
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Abstract

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 SET binding protein 1 (SETBP1). In silico tools have revealed that there are several human SETBP1 paralogous to nuclear receptor binding SET domain protein 1 (NSD1), NSD2 and NSD3, for example, which are also involved in the development of other hematological malignancies. Therefore, the present study analyzed the mutational status of NSD1, NSD2, NSD3 and SETBP1 in BCR-ABL1 negative MPNs with or without Janus kinase 2 (JAK2) p.V617F mutation. The present study revealed that the NSD genes are not frequently mutated in MPNs. However, a novel SETBP1 mutation was identified in a patient with p.V617F JAK2 positive primary myelofibrosis. These results provide further insight into the genetic complexity of MPNs.
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June 2019
Volume 10 Issue 6

Print ISSN: 2049-9450
Online ISSN:2049-9469

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APA
Eder‑Azanza, L., Hurtado, C., Navarro‑Herrera, D., Calavia, D., Novo, F.J., & Vizmanos, J.L. (2019). Analysis of genes encoding epigenetic regulators in myeloproliferative neoplasms: Coexistence of a novel SETBP1 mutation in a patient with a p.V617F JAK2 positive myelofibrosis. Molecular and Clinical Oncology, 10, 639-643. https://doi.org/10.3892/mco.2019.1840
MLA
Eder‑Azanza, L., Hurtado, C., Navarro‑Herrera, D., Calavia, D., Novo, F. J., Vizmanos, J. L."Analysis of genes encoding epigenetic regulators in myeloproliferative neoplasms: Coexistence of a novel SETBP1 mutation in a patient with a p.V617F JAK2 positive myelofibrosis". Molecular and Clinical Oncology 10.6 (2019): 639-643.
Chicago
Eder‑Azanza, L., Hurtado, C., Navarro‑Herrera, D., Calavia, D., Novo, F. J., Vizmanos, J. L."Analysis of genes encoding epigenetic regulators in myeloproliferative neoplasms: Coexistence of a novel SETBP1 mutation in a patient with a p.V617F JAK2 positive myelofibrosis". Molecular and Clinical Oncology 10, no. 6 (2019): 639-643. https://doi.org/10.3892/mco.2019.1840