Identification of mutation in calreticulin gene in patients with suspicion on chronic myeloproliferative diseases

Тип публикации: статья из журнала

Год издания: 2014

Ключевые слова: Calreticulin, Essential thrombocythemia, Myelofibrosis, Polycythemia vera, Somatic mutations, calreticulin, somatic mutations, essential thrombocythemia, myelofibrosis, polycythemia vera, CALR MUTATIONS, NEOPLASMS, DISTINCT

Аннотация: Molecular genetic analysis of the peripheral blood was carried out in 363 patients with suspicion on chronic myeloproliferative disease. Mutations in calreticulin (CALR) gene were detected by the original PCR method with electrophoretic detection. Mutations in the CALR gene were detected in 30 of 58 patients with essential thrombocythemia (ET) and myelofibrosis (MF) and without mutations in JAK2 (V617F) and MPL genes. Only one patient with ET had a combination of two different mutations in genes JAK2 (V617F) and CALR (del). No mutations in CALR gene were detected in patients with verified polycythemia vera, other oncohematological diseases, and with secondary thromboerythrocytosis. The CALR mutations were approximately equally incident in men and women, with a trend to predominance in younger patients. Patients with CALR mutations and ET had lower counts of erythrocytes and exhibited a trend to pronounced thrombocytosis. Use of additional molecular genetic testing for CALR mutations within frames of the diagnostic algorithm increased 2-fold the after-test probability of detection of the clonal pattern of the disease, helped to attain 80% sensitivity of testing in the diagnosis of ET and MF and to rule out polycythemia vera. Detection of CALR mutations could be recommended for adding to the standard protocol for the differential diagnosis of chronic myeloproliferative diseases.

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Издание

Журнал: Gematologiya i Transfusiologiya

Выпуск журнала: Vol. 59, Is. 3

Номера страниц: 12-15

ISSN журнала: 02345730

Авторы

  • Olkhovsky I.A. (Hematol Res Ctr, Krasnoyarsk Affiliated Dept, Krasnoyarsk 660036, Russia)
  • Gorbenko A.S. (Hematol Res Ctr, Krasnoyarsk Affiliated Dept, Krasnoyarsk 660036, Russia; Krasnoyarsk Res Ctr, Krasnoyarsk 660036, Russia)
  • Stolyar M.A. (Hematol Res Ctr, Krasnoyarsk Affiliated Dept, Krasnoyarsk 660036, Russia; Krasnoyarsk Res Ctr, Krasnoyarsk 660036, Russia; Siberian Fed Univ, Krasnoyarsk 660041, Russia)
  • Subbotina T.N. (Hematol Res Ctr, Krasnoyarsk Affiliated Dept, Krasnoyarsk 660036, Russia; Siberian Fed Univ, Krasnoyarsk 660041, Russia)
  • Vasilyev E.V. (Terr Clin Hosp, Krasnoyarsk 660022, Russia)
  • Vinogradova E.Yu. (Terr Clin Hosp, Krasnoyarsk 660022, Russia)
  • Martynova E.V. (Terr Clin Hosp, Krasnoyarsk 660022, Russia)
  • Moskov V.I. (Terr Clin Hosp, Krasnoyarsk 660022, Russia)
  • Azarenko G.N. (Terr Clin Hosp, Krasnoyarsk 660022, Russia)
  • Smelyanskaya M.G. (Terr Clin Hosp, Krasnoyarsk 660022, Russia)
  • Olkhovik T.I. (Municipal Clin Hosp 7, Krasnoyarsk 660003, Russia)
  • Osadchaya M.G. (Municipal Clin Hosp 7, Krasnoyarsk 660003, Russia)
  • Kislichenko O.R. (Municipal Clin Hosp 7, Krasnoyarsk 660003, Russia)
  • Mikhalyov M.A. (Municipal Clin Hosp 7, Krasnoyarsk 660003, Russia)
  • Fando Zh. G. (Municipal Clin Hosp 7, Krasnoyarsk 660003, Russia)
  • Bakhtina V.I. (VFVoino Yasenetsky Krasnoyarsk State Med Univ, Krasnoyarsk 660022, Russia; Hematol Res Ctr, Krasnoyarsk Affiliated Dept, Krasnoyarsk 660036, Russia; Terr Clin Hosp, Krasnoyarsk 660022, Russia)
  • Kuznetsova E.Yu. (Municipal Clin Hosp 7, Krasnoyarsk 660003, Russia; VFVoino Yasenetsky Krasnoyarsk State Med Univ, Krasnoyarsk 660022, Russia)
  • Rykun L.A. (Railrd Hosp, Krasnoyarsk 660058, Russia)
  • Shalkova I.V. (Clin Hosp 51, Zheleznogorsk 662970, Russia)

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