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Review
. 2021 Sep 9;13(9):e17854.
doi: 10.7759/cureus.17854. eCollection 2021 Sep.

JAK2 and TET2 Mutation in Polycythemia Vera

Jaskamal Padda  1 , Khizer Khalid  1 , Jayant Yadav  1 , Abdulelah H Almanie  1 , Krutagni Adwait Mehta  1 , Hussam Al Hennawi  1 , Nymisha L Boddeti  1 , Victor Yosef Melt Campos  1 , Gutteridge Jean-Charles  1   2
Affiliations
Review

JAK2 and TET2 Mutation in Polycythemia Vera

Jaskamal Padda et al. Cureus. .

Abstract

The Ten-Eleven Translocation-2 (TET2) gene, located on chromosome 4q24, has been implicated in hematological malignancies. The TET2 gene shows mutations in variable myeloid malignancies with the involvement of 15% of myeloproliferative neoplasms (MPNs). The inactivation of the TET2 gene in both mice and humans has shown a high degree of deregulation of the hematopoiesis process leading to hematological malignancies. Polycythemia vera (PV), an MPN characterized by increased red blood cell mass, has been associated with the TET2 gene. Furthermore, TET2 genes have been found to facilitate Janus kinase-2 and signal transducer activator of transcription 5, as well as modulate the epigenetic composition of genomic DNA. However, little is known about the role of TET2 mutations in patients with PV. Several studies have been conducted to further assess the significant role of TET2 gene function in various disease processes and prognoses to enhance the management and care of these patients.

Keywords: jak2; myeloproliferative neoplasms; polycythemia vera; stat5; tet2.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. The progression of HSC to AML - TET2 and JAK2.
LOF: loss of function; HSC: hematopoietic stem cells; MPN: myeloproliferative neoplasm; JAK2V617F: Janus kinase 2; NPM1c: nucleophosmin; TET2: Ten-Eleven Translocation-2; AML: acute myeloid leukemia Copyright/License: Licensee MDPI, Basel, Switzerland. This figure is from an open-access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). No modifications were made to the original figure. Perner F, Perner C, Ernst T, Heidel FH: Roles of JAK2 in aging, inflammation, hematopoiesis and malignant transformation. Cells. 2019, 8:854. 10.3390/cells8080854 [15].
See this image and copyright information in PMC

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