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  • Revealing of Jak2 V617F mutation in chronic Ph-negative diseases

    Редактор | 2014, Practical medicine 04 (14) Innovative technologies in medicine. Part 1 | 30 июля, 2014

    A.M. SAVRILOVA¹, A.V. KOSTERINA², A.R. AKHMADEYEV¹

    ¹Kazan State Medical University, 49 Butlerov St., Kazan, Russian Federation 420012

    ²Republic Clinical Hospital of the Ministry of Healthcare of the Republic of Tatarstan, 138 Orenburgskiy Trakt, Kazan, Russian Federation 420064

    Savrilova A.M. — doctor-hematologist of Consultative Outpatient Policlinic, tel. +7-905-312-63-09, e-mail: аlsu-mindubaeva@yandex.ru1

    Kosterina A.V. — Assistant Lecturer of Hospital Therapy Department, tel. +7-917-273-77-68, e-mail: avakost@mail.ru2

    Akhmadeyev A.R. — Head of Hematology Department, tel. +7-927-240-55-90,

    e-mail: ahmadeev_ar@ mail.ru1

    Chronic myeloproliferative diseases (CMPD) are clonal disorders with excess proliferation (cell production) of one or more lineages of hematopoiesis. The most common CMPDs are polycythemia vera, essential thrombocytosis and idiopathic primary myelofibrosis. Specific molecular abnormalities were found that are characteristic for these disorders. The most common of them is mutation of gene Janus kinase 2 (Jak2 V617F).

    Key words: chronic myeloproliferative diseases, polycythemia vera, essential thrombocytosis, idiopathic primary myelofibrosis, mutation Jak2 V617F.

     

     

    REFERENCES

    1. Tefferi A., Vardiman J.W. Classification and of myeloproliferative neoplasms: Tye 2008 World Health Organization criteria and point-of care diagnostic algotrym. Leukemia, 2008, vol. 22, pp. 14-22.

    2. Kaushansky K. The chronic myeloproliferative disorders and mutation of JAK2: Dameshek’s 54 year old speculation comes of age. Best Pract. Res. Clin. Haematol., 2007, 20, pp. 5-12.

    3. Saharinen P., Silvennoinen O. The pseudokinase domain is required for suppression of basal activity of Jak2 and Jak3 tyrosine kinases and for cytokine-inducible activation of signal transduction. J. Biol. Chem., 2002, 277, pp. 47954-63.

    4. Feener E.P., Rosario F., Dunn S.L., Stancheva Z., Myers M.G. Jr. Tyrosine phosphorylation of Jak2 in the JH2 domain inhibits cytokine signaling. Mol. Cell Biol., 2004, 24, pp. 4968-78.

    5. Pietra D., Li S., Brisci A. et al. Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. Blood, 2007, 111, pp. 1686-9.

    6. Tefferi A., Gangat N., Wolanskyj A.P. et al. 20 yr without leukemic or fibrotic transformation in essential thrombocythemia or polycythemia vera: predictors at diagnosis. Eur. J. Haematol., 2008, 80, pp. 386-90.

    7. 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, 112, pp. 231-9.

    8. Swerdlow S.H., Campo E., Harris N.L. et al. (eds.) WHO classification of tumors of haematopoietic and lymphoid tissues, 4th edn. Lyon: IARC-press, 2008.

    9. Tefferi A., Vardiman J.W. The diagnostic interface between histology and molecular tests in myeloproliferative disorders. Curr. Opin. Hematol., 2007, 14, pp. 115-22.

    10. Harrison C.N., Green A.R. Essential thrombocythaemia. Best Pract. Res. Clin. Haematol., 2006, 19, pp. 439-53.

    11. Kiladjian J.J., Cervantes F., Leebeek F.W. et al. The impact of JAK2 and MPL mutations on diagnosis and prognosis of splanchnic vein thrombosis: a report on 241 cases. Blood, 2008, 111, pp. 4922-9.

    12. Primignani M., Barosi G., Bergamaschi G. et al. Role of the JAK2 mutation in the diagnosis of chronic myeloproliferative disorders in splanchnic vein thrombosis. Hepatology, 2006, 44, pp. 1528-34.

    Метки: A.M. SAVRILOVA, A.R. AKHMADEYEV, A.V. KOSTERINA, chronic myeloproliferative diseases, essential thrombocytosis, idiopathic primary myelofibrosis, mutation Jak2 V617F, polycythemia vera, Practical medicine 04 (14) Innovative technologies in medicine. Part 1

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