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Article

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 / Copyright

    Affiliations: Department of Biochemistry and Genetics, School of Sciences, University of Navarra, E‑31008 Pamplona, Spain
  • Pages: 639-643
    |
    Published online on: April 8, 2019
       https://doi.org/10.3892/mco.2019.1840
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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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1 

Murati A, Brecqueville M, Devillier R, Mozziconacci MJ, Gelsi-Boyer V and Birnbaum D: Myeloid malignancies: Mutations, models and management. BMC Cancer. 12:3042012. View Article : Google Scholar : PubMed/NCBI

2 

Shih AH, Abdel-Wahab O, Patel JP and Levine RL: The role of mutations in epigenetic regulators in myeloid malignancies. Nat Rev Cancer. 12:599–612. 2012. View Article : Google Scholar : PubMed/NCBI

3 

McPherson S, McMullin MF and Mills K: Epigenetics in myeloproliferative neoplasms. J Cell Mol Med. 21:1660–1667. 2017. View Article : Google Scholar : PubMed/NCBI

4 

Piazza R, Valletta S, Winkelmann N, Redaelli S, Spinelli R, Pirola A, Antolini L, Mologni L, Donadoni C, Papaemmanuil E, et al: Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. Nat Genet. 45:18–24. 2013. View Article : Google Scholar : PubMed/NCBI

5 

Cristóbal I, Blanco FJ, Garcia-Orti L, Marcotegui N, Vicente C, Rifon J, Novo FJ, Bandres E, Calasanz MJ, Bernabeu C and Odero MD: SETBP1 overexpression is a novel leukemogenic mechanism that predicts adverse outcome in elderly patients with acute myeloid leukemia. Blood. 115:615–625. 2010. View Article : Google Scholar : PubMed/NCBI

6 

Oakley K, Han Y, Vishwakarma BA, Chu S, Bhatia R, Gudmundsson KO, Keller J, Chen X, Vasko V, Jenkins NA, et al: Setbp1 promotes the self-renewal of murine myeloid progenitors via activation of Hoxa9 and Hoxa10. Blood. 119:6099–6108. 2012. View Article : Google Scholar : PubMed/NCBI

7 

Trimarchi T, Ntziachristos P and Aifantis I: A new player SETs in myeloid malignancy. Nat Genet. 45:846–847. 2013. View Article : Google Scholar : PubMed/NCBI

8 

Akiki S, Dyer SA, Grimwade D, Ivey A, Abou-Zeid N, Borrow J, Jeffries S, Caddick J, Newell H, Begum S, et al: NUP98-NSD1 fusion in association with FLT3-ITD mutation identifies a prognostically relevant subgroup of pediatric acute myeloid leukemia patients suitable for monitoring by real time quantitative PCR. Genes Chromosomes Cancer. 52:1053–1064. 2013. View Article : Google Scholar : PubMed/NCBI

9 

Hollink IH, van den Heuvel-Eibrink MM, Arentsen-Peters ST, Pratcorona M, Abbas S, Kuipers JE, van Galen JF, Beverloo HB, Sonneveld E, Kaspers GJ, et al: NUP98/NSD1 characterizes a novel poor prognostic group in acute myeloid leukemia with a distinct HOX gene expression pattern. Blood. 118:3645–3656. 2011. View Article : Google Scholar : PubMed/NCBI

10 

Shiba N, Ichikawa H, Taki T, Park MJ, Jo A, Mitani S, Kobayashi T, Shimada A, Sotomatsu M, Arakawa H, et al: NUP98-NSD1 gene fusion and its related gene expression signature are strongly associated with a poor prognosis in pediatric acute myeloid leukemia. Genes Chromosomes Cancer. 52:683–693. 2013.PubMed/NCBI

11 

Rosati R, La Starza R, Veronese A, Aventin A, Schwienbacher C, Vallespi T, Negrini M, Martelli MF and Mecucci C: NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15). Blood. 99:3857–3860. 2002. View Article : Google Scholar : PubMed/NCBI

12 

Taketani T, Taki T, Nakamura H, Taniwaki M, Masuda J and Hayashi Y: NUP98-NSD3 fusion gene in radiation-associated myelodysplastic syndrome with t(8;11)(p11;p15) and expression pattern of NSD family genes. Cancer Genet Cytogenet. 190:108–112. 2009. View Article : Google Scholar : PubMed/NCBI

13 

Chesi M, Nardini E, Lim RS, Smith KD, Kuehl WM and Bergsagel PL: The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts. Blood. 92:3025–3034. 1998.PubMed/NCBI

14 

Jaffe JD, Wang Y, Chan HM, Zhang J, Huether R, Kryukov GV, Bhang HE, Taylor JE, Hu M, Englund NP, et al: Global chromatin profiling reveals NSD2 mutations in pediatric acute lymphoblastic leukemia. Nat Genet. 45:1386–1391. 2013. View Article : Google Scholar : PubMed/NCBI

15 

Gelsi-Boyer V, Trouplin V, Adélaïde J, Bonansea J, Cervera N, Carbuccia N, Lagarde A, Prebet T, Nezri M, Sainty D, et al: Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol. 6:788–800. 2009. View Article : Google Scholar

16 

Abdel-Wahab O, Tefferi A and Levine RL: Role of TET2 and ASXL1 mutations in the pathogenesis of myeloproliferative neoplasms. Hematol Oncol Clin North Am. 5:1053–1064. 2012. View Article : Google Scholar

17 

Makishima H, Yoshida K, Nguyen N, Przychodzen B, Sanada M, Okuno Y, Ng KP, Gudmundsson KO, Vishwakarma BA, Jerez A, et al: Somatic SETBP1 mutations in myeloid malignancies. Nat Genet. 45:942–946. 2013. View Article : Google Scholar : PubMed/NCBI

18 

Makishima H: Somatic SETBP1 mutations in myeloid neoplasms. Int J Hematol. 105:732–742. 2017. View Article : Google Scholar : PubMed/NCBI

19 

Saeidi K: Myeloproliferative neoplasms: Current molecular biology and genetics. Crit Rev Oncol Hematol. 98:375–389. 2016. View Article : Google Scholar : PubMed/NCBI

20 

Tefferi A, Pardanani A, Lim KH, Abdel-Wahab O, Lasho TL, Patel J, Gangat N, Finke CM, Schwager S, Mullally A, et al: TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia. 23:905–911. 2009. View Article : Google Scholar : PubMed/NCBI

21 

Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C and Bertola D: Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. Am J Med Genet 167A. 1039–1046. 2015. View Article : Google Scholar

22 

Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, et al: Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genet. 13:e10066832017. View Article : Google Scholar : PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Eder‑Azanza L, Hurtado C, Navarro‑Herrera D, Calavia D, Novo FJ and Vizmanos JL: 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. Mol Clin Oncol 10: 639-643, 2019.
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
Copy and paste a formatted citation
x
Spandidos Publications style
Eder‑Azanza L, Hurtado C, Navarro‑Herrera D, Calavia D, Novo FJ and Vizmanos JL: 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. Mol Clin Oncol 10: 639-643, 2019.
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
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