Open Access

Molecular landscape of the JAK2 gene in chronic myeloproliferative neoplasm patients from the state of Amazonas, Brazil

  • Authors:
    • Dania G. Torres
    • Emanuela V. Barbosa Alves
    • Miliane Araújo de Sousa
    • Wanessa H. Laranjeira
    • Jhemerson Paes
    • Erycka Alves
    • Deborah Canté
    • Allyson G. Costa
    • Adriana Malheiro
    • Rosângela Abreu
    • Leny Nascimento
    • Nelson A. Fraiji
    • George A.V. Silva
    • Lucivana P. de Souza Mourão
    • Andréa M. Tarragô
  • View Affiliations

  • Published online on: October 23, 2023     https://doi.org/10.3892/br.2023.1680
  • Article Number: 98
  • Copyright: © Torres et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

JAK2V617F (dbSNP: rs77375493) is the most frequent and most‑studied variant in BCR::ABL1 negative myeloproliferative neoplasms and in the JAK2 gene. The present study aimed to molecularly characterize variants in the complete coding region of the JAK2 gene in patients with BCR::ABL1 negative chronic myeloproliferative neoplasms. The study included 97 patients with BCR::ABL1 negative myeloproliferative neoplasms, including polycythemia vera (n=38), essential thrombocythemia (n=55), and myelofibrosis (n=04). Molecular evaluation was performed using conventional PCR and Sanger sequencing to detect variants in the complete coding region of the JAK2 gene. The presence of missense variants in the JAK2 gene including rs907414891, rs2230723, rs77375493 (JAK2V617F), and rs41316003 were identified. The coexistence of variants was detected in polycythemia vera and essential thrombocythemia. Thus, individuals with high JAK2V617F variant allele frequency (≥50% VAF) presented more thrombo‑hemorrhagic events and manifestations of splenomegaly compared with those with low JAK2V617F variant allele frequency (<50% VAF). In conclusion, individuals with BCR::ABL1 negative neoplasms can display >1 variant in the JAK2 gene, especially rs2230722, rs2230724, and rs77375493 variants, and those with high JAK2V617F VAF show alterations in the clinical‑laboratory profile compared with those with low JAK2V617F VAF.
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December-2023
Volume 19 Issue 6

Print ISSN: 2049-9434
Online ISSN:2049-9442

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Spandidos Publications style
Torres DG, Barbosa Alves EV, Araújo de Sousa M, Laranjeira WH, Paes J, Alves E, Canté D, Costa AG, Malheiro A, Abreu R, Abreu R, et al: Molecular landscape of the <em>JAK2</em> gene in chronic myeloproliferative neoplasm patients from the state of Amazonas, Brazil. Biomed Rep 19: 98, 2023
APA
Torres, D.G., Barbosa Alves, E.V., Araújo de Sousa, M., Laranjeira, W.H., Paes, J., Alves, E. ... Tarragô, A.M. (2023). Molecular landscape of the <em>JAK2</em> gene in chronic myeloproliferative neoplasm patients from the state of Amazonas, Brazil. Biomedical Reports, 19, 98. https://doi.org/10.3892/br.2023.1680
MLA
Torres, D. G., Barbosa Alves, E. V., Araújo de Sousa, M., Laranjeira, W. H., Paes, J., Alves, E., Canté, D., Costa, A. G., Malheiro, A., Abreu, R., Nascimento, L., Fraiji, N. A., Silva, G. A., Mourão, L. P., Tarragô, A. M."Molecular landscape of the <em>JAK2</em> gene in chronic myeloproliferative neoplasm patients from the state of Amazonas, Brazil". Biomedical Reports 19.6 (2023): 98.
Chicago
Torres, D. G., Barbosa Alves, E. V., Araújo de Sousa, M., Laranjeira, W. H., Paes, J., Alves, E., Canté, D., Costa, A. G., Malheiro, A., Abreu, R., Nascimento, L., Fraiji, N. A., Silva, G. A., Mourão, L. P., Tarragô, A. M."Molecular landscape of the <em>JAK2</em> gene in chronic myeloproliferative neoplasm patients from the state of Amazonas, Brazil". Biomedical Reports 19, no. 6 (2023): 98. https://doi.org/10.3892/br.2023.1680