Новая мутация в CALR в диагностике и прогнозе тромбоцитемии.
 

Новая мутация в гене калретикулина CALR ex.9 помогает установлению диагноза эссенциальная тромбоцитемия (обнаруживается у каждого 4-го с данным диагнозом или у большинства (>70%) пациентов с отсутствием мутаций в JaK-2), подробнее:

JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes.

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Мутация CALR и долгосрочная выживаемость у пациентов с тромбоцитемией:

Leukemia. 2014 May 5.
Calreticulin mutations and long-term survival in essential thrombocythemia.
Tefferi A1, Wassie EA1, Lasho TL1, Finke C1, Belachew AA1, Ketterling RP2, Hanson CA3, Pardanani A1, Gangat N1, Wolanskyj AP1.
1Departments of Internal Medicine, Divisions of Hematology, Mayo Clinic, Rochester, MN, USA.2Divisions of Cytogenetics, Laboratory Medicine, Mayo Clinic, Rochester, MN, USA.3Division Hematopathology, Laboratory Medicine, Mayo Clinic, Rochester, MN, USA.

The impact of calreticulin (CALR) mutations on long-term survival in essential thrombocythemia (ET) was examined in 299 patients whose diagnosis predated 2006. Mutational frequencies were 53% for JAK2, 32% for CALR and 3% for MPL; the remaining 12% were 'triple-negative'. We confirmed the association of mutant CALR (vs JAK2V617F) with younger age (P=0.002), male sex (P=0.01), higher platelet count (0.0004), lower hemoglobin (P<0.0001), lower leukocyte count (0.02) and lower incidence of recurrent thrombosis (0.04). Triple-negative patients were also younger than their JAK2-mutated counterparts (P=0.003) and displayed lower hemoglobin (P=0.003), lower leukocyte count (<0.0001) and lower thrombotic events (P=0.02). Median follow-up time was 12.7 years and 47% of the patients were followed until death. Survival was the longest for triple-negative and shortest for MPL mutated patients. Median survival was 19 years for JAK2 and 20 years for CALR mutated cases (P=0.32); the corresponding figures for patients age < 65 years were 26 and 32 years (P=0.56). The two mutational categories were also similar for leukemic (P=0.28) and fibrotic (P=0.28) progression rates. The current study is uniquely characterized by its very long follow-up period and provides accurate estimates of long-term survival in ET and complements current information on mutation-specific phenotype and prognosis.

Modification of British Committee for Standards in Haematology diagnostic criteria for essential thrombocythaemia

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Апдейт 2015 по полицитемии и эссенциальной тромбоцитемии:

Tefferi A, Barbui T.
Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk-stratification and management.
Am J Hematol. 2015 Feb;90(2):162-73.
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При эссенциальном тромбоцитозе прием по 38 мг аспирина дважды в день более эффективно угнетает функцию тромбоцитов и секрецию тромбоксана, чем 75 мг один раз в день
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Platelets. 2018 Feb 14:1-7.
Once- versus twice-daily aspirin treatment in patients with essential thrombocytosis.

Polycythemia vera treatment algorithm 2018.
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Essential thrombocythemia treatment algorithm 2018.
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