1 research outputs found
Features of hematological parameters in CALR-positive patients with myeloproliferative neoplasms
Визначена частота мутацій 1-го та 2-го типів гена CALR у 144 хворих на ЕТ та ПМФ. Мутації гена
CALR були виявлені у 26 (18,1%) випадків, із них у 12 (28,6%) хворих на радіаційно-асоційовані МПН. Показано, що мутації гена CALR виявляються частіше серед хворих на радіаційно-асоційовані МПН (р = 0,05). Хворі на ЕТ та ПМФ характеризуються підвищеною кількістю тромбоцитів (р = 0,0004). Кількість еритроцитів (р = 0,04) та рівень гемоглобіну (р = 0,05) є нижчими серед CALR-позитивних хворих, ніж у хворих із JAK2 V617F- позитивним мутаційним статусом; Определена частота мутаций 1-го и 2-го типов гена CALR у 14больных ЭТ и ПМФ. Мутации гена CALR были обнаружены в 26 (18,1%) случаях, из них у 12 (28,6%) больных радиационно-ассоциированные МПН. Показано, что мутации гена CALR оказываются чаще среди больных радиационно-ассоциированными МПН (р = 0,05). Больные ЭТ и ПМФ характеризуются повышенным количеством тромбоцитов (р = 0,0004). Количество эритроцитов (р = 0,04) и уровень гемоглобина (р = 0,05) является ниже среди CALR- положительных больных, чем у больных с JAK2 V617F-положительным мутационным статусом; Classic chronic Ph-negative myeloproliferative neoplasms (MPNs) are an unique group of hematologic diseases encompassing polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Our understanding of the mechanisms of MPNs development was dramatically changed in 2005, when recurrent mutation of tyrosine kinase JAK2 V617F was described in most patients with PV and in 50-60% patients with ET and PMF. Later, other MPNs-causing mutations were reported in MPL, CALR genes as well as in JAK2 gene involving other localizations. In most cases mutations in these genes arise in mutually exclusive way and cause establishment of myeloproliferative phenotype predominantly through JAK-STAT3/5 signalling pathway. Therefore, MPNs have common molecular genetic features and can mimic each other. However, due to impact of the factors such as specific disease-causing mutations in one of three mentioned genes, experiencing of low doses of ionizing radiation, they can present with different clinical characteristics. Aim of our research was to study the frequency of the most common CALR gene mutations and their association with clinical hematological characteristics in Ukrainian patients with ET and PMF with accent on radiation-associated MPNs. 144 patients with ET and PMF (including 42 patients who were previously exposed to low doses of ionizing radiation) were tested for presence of JAK2 V617F mutation using allele-specific PCR, 1st type CALR (52 bp deletion) and 2nd type CALR (5 bp insertion) gene mutations using RT-PCR. Hematological parameters in 144 MPN patiens were analysed. CALR gene mutations were detected in 26 (18,1%) cases, including 12 (28,6%) patient with MPNs previously exposed to ionizing radiation. In our study we showed that CALR gene mutations are more common among MPN patients who were previously exposed to ionazing radiation (p = 0,05). Platelets count is higher (p = 0,0004), but red blood cells count (p = 0,04) and level of hemoglobin (p = 0,05) are lower in CALR-positive patients, than in JAK2-positive patients