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  • The combination of paroxysmal nocturnal hemoglobinuria and myeloproliferative diseases

    Редакция | 2015, Practical medicine 04 (15) Innovative technologies in medicine. Part 2 | 15 июня, 2015

    А.М. SAVRILOVA1, А.V. КОSTERINA2, I.S. МАRTYNKEVICH3

    1Republican Clinical Hospital of the MH of RT, 138 Orenburgskiy Trakt, Kazan, Russian Federation, 420064

    2Kazan State Medical University, 49 Butlerov St., Kazan, Russian Federation, 420012

    3Russian Research Institute of Hematology and Transfusiology FMBA of Russia, 16 2nd Sovetskaya St., Sankt-Petersburg, Russian Federation, 193024

    Savrilova A.M. — haematologist of consultative polyclinic, tel. +7-905-312-63-09, e-mail: alsu-mindubaeva@yandex.ru

    Коsterina A.V. — Assistant of the Department of Hospital Therapy, tel. +7-917-273-77-68, e-mail: avakost@mail.ru

    Маrtynkevich I.S. — D. Biol. Sc., Head of the Laboratory of Molecular Genetics, tel. +7-911-225-38-03, e-mail: martynkevich.ira@mail.ru

    The article presents a theoretical published data about combination of paroxysmal nocturnal hemoglobinuria and myeloproliferative disorders. A clinical case of a combination of these diseases, confirmed by laboratory methods (immunophenotyping of peripheral blood, bone marrow cytogenetic study, trephan biopsy). Translocation t (X; 7) is connected with high risk of transformation to acute leukemia.

    Key words: paroxismal nocturnal hemoglobinuria, myeloproliferative disease, Jak2 V617F, translocation t (X;7).

     

     

    REFERENCES

    1. Parker C., Omine M., Richards S. et al. For the International PNH Interest Group. Diagnosis and management of paroxysmal nocturnal hemoglobinuria. Blood. Dec 1, 2005, vol. 106 (12), pp. 3699-709.
    2. Tefferi A., Vardiman J.W. Classification and of myeloproliferative neoplasms: Tye 2008 World Health Organization criteria and point-of care diagnostic algotryms. Leukemia, 2008, vol. 22, pp. 14-22.
    3. Tefferi A., Vardiman J.W. The diagnostic interface between histology and molecular tests in myeloproliferative disorders. Curr. Opin. Hematol, 2007, vol. 14, pp. 115-22.
    4. Li S., Kralovics R., De Libero, Theocharides A. et al. Clonal heterogeneity in polycythemia vera patients with JAK2 exon 12 and Jak2-V617F mutations. Blood, 2008, vol. 111, pp. 3863-3866.
    5. Wanachiwanawin W., Siripanyaphinyo U., Piyawattanasakul N. et al. A cohort study of the nature of paroxysmal nocturnal hemoglobinuria clones and PIG-A mutations in patient with aplastic anemia. Eur J Haematol, 2006, vol. 76, pp. 502-509.
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    7. Kralovics R. Genetic complexity of myeloproliferative neoplasms. Zleukemia, 2008, vol. 22, pp. 1841-1848.
    8. Meletis J., Terpos E., Samarkos M. et al. Detection of CD 55 and/or CD59 deficient red cell population in patient with aplastic anemia, myelodysplastic syndromes and myeloproliferative disorders. Haemotologia (Budap), 2001, vol. 31, pp. 7-16.
    9. Fouassier M., Girodon F., Cleyrat C., Robillard N. et al. Absence of Jak2 –V617F in paroxysmal nocturnal hemoglobinuria-associated thrombosis. Thromb Haemost, 2009, vol. 102, pp. 180-182.

    Метки: A.M. SAVRILOVA, A.V. KOSTERINA, I.S. МАRTYNKEVICH, Jak2 V617F, myeloproliferative disease, paroxismal nocturnal hemoglobinuria, Practical medicine 04 (15) Innovative technologies in medicine. Part 2, translocation t (X;7)

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