Development of Test System for Detection of V617F Mutation of JAK2 Gene in Patients with Chronic Myeloproliferative Disorders

Authors

  • M.V. Dybkov
  • I.R. Gartovska
  • G.D. Telegeev
  • S.S. Maliuta

DOI:

https://doi.org/10.15407/scin5.06.059

Keywords:

diagnostics, JAK2, myeloproliferative disorders, PCR, V617F

Abstract

V617F mutation of jak2 gene is an important diagnostic criterion for chronic myeloproliferative disorders. The testsystem for detection of the mutation by using the method of reverse transcription polymerase chain reaction and direct sequencing of PCR products was proposed.

References

Dameshek W. Some speculations on the myeloproliferative syndromes. Blood. 1951. V. 6. P. 372-375.

Vardiman J.W., Harris N.L., Brunning R.D. The World Health Organization (WHO) classification of the myeloid neo plasms. Blood. 2002. V. 100. P. 2292-2302.

https://doi.org/10.1182/blood-2002-04-1199

Baxter E.J., Scott L.M., Campbell P.J. et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005. V. 365, N 9464. P. 1054-1061.

https://doi.org/10.1016/S0140-6736(05)74230-6

Kralovics R., Passamonti F., Buser A.S. et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005. V. 352, N 17. P. 1779-1790.

https://doi.org/10.1056/NEJMoa051113

Levine R.L., Wadleigh M., Cools J. et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005. V. 7, N 4. P. 387-397.

https://doi.org/10.1016/j.ccr.2005.03.023

Zhao R., Xing S., Li Z. et al. Identification of an acquired JAK2 mutation in polycythemia vera. J Biol Chem. 2005. V. 280, N 24. P. 22788-22792.

https://doi.org/10.1074/jbc.C500138200

James C., Ugo V., Le Couedic J.P. et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005. V. 434. P. 1144-1148.

https://doi.org/10.1038/nature03546

Scott L.M., Tong W., Levine R.L. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med. 2007. V. 356, N 5. P. 459-468.

https://doi.org/10.1056/NEJMoa065202

Tefferi A., Vardiman J.W. Classification and diagnosis of myeloproliferative neoplasms: The 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia. 2008. V. 22. P. 14-22.

https://doi.org/10.1038/sj.leu.2404955

Spivak J.L., Silver R.T. The revised World Health Organization diagnostic criteria for polycythemia vera, essential thrombocytosis, and primary myelofibrosis: an alternative proposal. Blood. 2008. V. 112, N 2. P. 231-239.

https://doi.org/10.1182/blood-2007-12-128454

Chomczynski P., Sacchi N. Single-step method of RNA iso lation by acid guanidinum thiocyanate-phenol-chloroform extraction. Analyt. Biochem. 1987. V. 162. P. 156-159.

https://doi.org/10.1016/0003-2697(87)90021-2

Telegejev G.D., Dybkov M.V., Bozhko M.V. ta in. Monitoryng hronichnogo mijelolejkozu za dopomogoju molekuljarno-biologichnyh metodiv (metodychni rekomendacii'). Respublikans'kyj centr naukovo-medychnoi' informacii'. Kyi'v, 1997 [in Ukrainian].

Hussein K., Bock O., Seegers A., Flasshove M. et al. Myelofibrosis evolving during imatinib treatment of a chronic myeloproliferative disease with coexisting BCR-ABL translocation and JAK2V617F mutation. Blood. 2007. V. 109, N 9. P. 4106-4107.

https://doi.org/10.1182/blood-2006-12-061135

Bocchia M., Vannucchi A.M., Gozzetti A. et al. Insights into JAK2–V617F mutation in CML. Lancet Oncol. 2007. V. 8. P. 864-866.

https://doi.org/10.1016/S1470-2045(07)70295-4

Published

2024-05-29

Issue

Section

Research and Engineering Innovative Projects of the National Academy of Sciences of Ukraine