Screening JAK2 V617F Mutation in Acute Myeloid Leukemia (AML) and Acute Lymphoblastic Leukemia (ALL) Patients

Authors

  • Maytham Alkaby Misan University
  • Maytham. A. Dragh

DOI:

https://doi.org/10.36320/ajb/v16.i3.17071

Keywords:

JAK2 V617F mutation, MPN, MDS, AML, ALL

Abstract

The JAK2 gene codes for the production of the Janus kinase 2 protein, which is essential for signaling from cell surface receptors to the nucleus of cells. The regulation of the generation of hematopoietic stem cells depends on these signals. A single nucleotide alteration called the JAK2 V617F mutation causes the protein's position 617 to shift from valine (V) to phenylalanine (F). Due to the overactivation of the JAK-STAT signaling system brought on by this mutation, hematopoietic stem cells proliferate uncontrollably in the bone marrow. Only infrequent reports of acute myeloid leukemia (AML) patients have included the JAK2 V617F mutation, which is recognized for its relationship with myeloproliferative neoplasms (MPN) and myelodysplastic syndromes (MDS). The purpose of this study is to determine if Iraqi patients with acute lymphoblastic leukemia (ALL) and AML have the JAK2 V617F mutation.

 

Downloads

Download data is not yet available.

References

Khan, I. A., Vattam, K. K., Jahan, P., Hasan, Q., & Rao, P. (2015). Importance of glucokinase-258G/A polymorphism in Asian Indians with post-transplant and type 2 diabetes mellitus. Intractable & rare diseases research, 5(1), 25-30.‏ https://doi.org/10.5582/irdr.2015.01040

Steensma, D. P., McClure, R. F., Karp, J. E., Tefferi, A., Lasho, T. L., Powell, H. L., ... & Kaufmann, S. H. (2006). JAK2 V617F is a rare finding in de novo acute myeloid leukemia, but STAT3 activation is common and remains unexplained. Leukemia, 20(6), 971-978. doi:10.1038/sj.leu.2404206

Vijayakrishnan,L.,Venkataramanan, R., & Gulati, P. (2011). Treating inflammation with the Janus kinase inhibitor CP-690,550. Trends in pharmacological sciences, 32(1), 25-34.‏ DOI:https://doi.org/10.1016/j.tips.2010.10.004

Khwaja, A. (2006). The role of Janus kinases in haemopoiesis and haematological malignancy. British journal of haematology, 134(4), 366-384.‏ https://doi.org/10.1111/j.1365-2141.2006.06206.x

Lai, S. Y., & Johnson, F. M. (2010). Defining the role of the JAK-STAT pathway in head and neck and thoracic malignancies: implications for future therapeutic approaches. Drug Resistance Updates, 13(3), 67-78. https://doi.org/10.1016/j.drup.2010.04.001

Baxter, E. J., Scott, L. M., Campbell, P. J., East, C., Fourouclas, N., Swanton, S., ... & Green, A. R. (2005). Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. The Lancet, 365(9464), 1054-1061.‏ DOI:https://doi.org/10.1016/S0140-6736(05)71142-9

Levine, R. L., Wadleigh, M., Cools, J., Ebert, B. L., Wernig, G., Huntly, B. J., ... & Gilliland, D. G. (2005). Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer cell, 7(4), 387-397. DOI:https://doi.org/10.1016/j.ccr.2005.03.023

James, C., Ugo, V., Le Couédic, J. P., Staerk, J., Delhommeau, F., Lacout, C., ... & Vainchenker, W. (2005). A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. nature, 434(7037), 1144-1148.‏ doi:10.1038/nature03546

Tefferi, A., Thiele, J., & Vardiman, J. W. (2009). The 2008 World Health Organization classification system for myeloproliferative neoplasms: order out of chaos. Cancer: Interdisciplinary International Journal of the American Cancer Society, 115(17), 3842-3847.‏ https://doi.org/10.1002/cncr.24440

Grünebach, F., Bross-Bach, U., Kanz, L., & Brossart, P. (2006). Detection of a new JAK2 D620E mutation in addition to V617F in a patient with polycythemia vera. Leukemia, 20(12), 2210-2211.‏ doi:10.1038/sj.leu.2404419

Schnittger, S., Bacher, U., Kern, W., Schröder, M., Haferlach, T., & Schoch, C. (2006). Report on two novel nucleotide exchanges in the JAK2 pseudokinase domain: D620E and E627E. Leukemia, 20(12), 2195-2197.‏ doi:10.1038/sj.leu.2404325

Swerdlow, S. H., Campo, E., & Harris, N. L. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. Revised 4th ed. Lyon, France: IARC; 2017. World Health Organization Classification of Tumours, 2.‏

Lee, J. W., Kim, Y. G., Soung, Y. H., Han, K., Kim, S. Y., Rhim, H. S., ... & Lee, S. H. (2006). The JAK2 V617F mutation in de novo acute myelogenous leukemias . Oncogene, 25(9), 1434-1436.‏ doi:10.1038/sj.onc.1209163

Tai, E. W., Ward, K. C., Bonaventure, A., Siegel, D. A., & Coleman, M. P. (2017). Survival among children diagnosed with acute lymphoblastic leukemia in the United States, by race and age, 2001 to 2009: findings from the CONCORD‐2 study. Cancer, 123, 5178-5189. https://doi.org/10.1002/cncr.30899

Carroll, W. L., & Raetz, E. A. (2012). Clinical and laboratory biology of childhood acute lymphoblastic leukemia. The Journal of pediatrics, 160(1), 10-18.‏ DOI:https://doi.org/10.1016/j.jpeds.2011.08.006

Mousa, Z. Q., & Dragh, M. A. (2023). Association of BCL11A Gene Polymorphism in Human Cells of Thalassemia Patient by Evaluation of Amplification Refractory Mutation System (ARMS).‏ DOI:10.26655/JMCHEMSCI.2023.4.15

Badrawy, H., & Ibrahim, A. (2013). JAK-2V617F Mutation in Acute Leukemia (South Egypt Experience). International Blood Research & Reviews, 2(1), 1-7.‏ https://doi.org/10.9734/IBRR/2014/5340

Jekarl, D. W., Han, S. B., Kim, M., Lim, J., Oh, E. J., Kim, Y., ... & Han, K. (2010). JAK2 V617F mutation in myelodysplastic syndrome, myelodysplastic syndrome/myeloproliferative neoplasm, unclassifiable, refractory anemia with ring sideroblasts with thrombocytosis, and acute myeloid leukemia. The Korean journal of hematology, 45(1), 46.‏ DOI: 10.5045/kjh.2010.45.1.46

Lee, Y., Lee, J. Y., Lee, J. O., Bang, S. M., & Hwang, S. M. (2022). JAK2 V617F-Positive Acute Myeloid Leukemia: Clinicopathological Features of Two Cases. Laboratory Medicine Online, 12(1), 53-57.‏ https://doi.org/10.47429/lmo.2022.12.1.53

Farasani, Abdullah. "Screening of V617F mutation in JAK2 gene with acute myeloid leukemia in the Saudi population." Acta Biochimica Polonica 69.1 (2022): 211-214.‏ DOI: https://doi.org/10.18388/abp.2020_5945

Jaradat, S. A., Khasawneh, R., Kamal, N., Matalka, I., Al-Bishtawi, M., Al-Sweedan, S., & Ayesh, M. H. (2015). Analysis of JAK2V617F mutation in Jordanian patients with myeloproliferative neoplasms. Hematology/Oncology and Stem Cell Therapy, 8(4), 160-166.‏ https://doi.org/10.1016/j.hemonc.2015.07.004

Itzykson, R., Kosmider, O., Renneville, A., Gelsi-Boyer, V., Meggendorfer, M., Morabito, M., ... & Solary, E. (2013). Prognostic score including gene mutations in chronic myelomonocytic leukemia. Journal of clinical oncology, 31(19), 2428-2436.‏ https://doi.org/10.1200/JCO.2012.47.3314

Lacronique, V., Boureux, A., Della Valle, V., Poirel, H., Quang, C. T., Mauchauffé, M., ... & Bernard, O. A. (1997). A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia. Science, 278(5341), 1309-1312.‏ DOI: 10.1126/science.278.5341.1309

Carron, C., Cormier, F., Janin, A., Lacronique, V., Giovannini, M., Daniel, M. T., ... & Ghysdael, J. (2000). TEL-JAK2 transgenic mice develop T-cell leukemia. Blood, The Journal of the American Society of Hematology, 95(12),3891-3899.‏ https://doi.org/10.1182/blood.V95.12.3891

Sulong, S., Case, M., Minto, L., Wilkins, B., Hall, A., & Irving, J. (2005). The V617F mutation in Jak2 is not found in childhood acute lymphoblastic leukaemia. British journal of haematology, 130(6), 964-965.‏ https://doi.org/10.1111/j.1365-2141.2005.05697.x

Ruiz-Argüelles, G. J., Garcés-Eisele, J., Reyes-Núñez, V., Ruiz-Delgado, G. J., Navarro-Vázquez, M., & González-Carrillo, M. L. (2006). The Janus Kinase 2 (JAK2) V617F mutation in hematological malignancies in México. Revista de investigación clínica, 58(5), 458-461.‏ Rev Invest Clin 2006; 58 (5): 458-461

Downloads

Published

2024-12-07

How to Cite

Alkaby, M., & Maytham. A. Dragh. (2024). Screening JAK2 V617F Mutation in Acute Myeloid Leukemia (AML) and Acute Lymphoblastic Leukemia (ALL) Patients. Al-Kufa University Journal for Biology, 16(3), 35-42. https://doi.org/10.36320/ajb/v16.i3.17071

Share