Registration Number
0219U001733,
0117U000625
, R & D reports
Title
Molekular genetik characteristics of Ph-negative myeloproliferative neoplasia in individuals exposed to ionizing radiation from the Chernobyl accident
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Head
Klymenko Serhiy Victorovych, Доктор медичних наук
Registration Date
25-02-2019
Organization
Research Centre for Radiation Medicine
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The object of the study is: radiation-associated and spontaneous MPNs. The aim of the study is: to determine the frequency of MPL, CALR, BRCA2, FANCD2, ASXL1, PTPN11 gene mutations and their association with clinical and hematological features of patients in Ph-negative myeloproliferative neoplasia (MPN) patients, exposed to ionizing radiation due to the Chernobyl nuclear accident. Methods: clinical and molecular genetic. The anamnestic, clinical hematological and laboratory features of both groups, IR-exposed to ionizing radiation due to Chernobyl nuclear accident and unexposed Ph-negative MPN patients, were similar. However, more exposed to ionizing radiation (IR) patients with primary myelofibrosis (PMF) were transfusion dependent, than PMF unexposed patients. JAK2, MPL and CALR genes mutations identification in Ph-negative MPN patients exposed to IR and unexposed showed that exposed to IR Ph-negative MPN patients exhibited a different genetic profile from that of unexposed patients: a lower rate of JAK2 V617F mutation, a higher rate of type 1-like CALR mutation, a higher rate of TN cases. A higher rate of pathogenic and potentially pathogenic sequence variants in addition to identified by whole exome sequencing was found in exposed to IR Ph-negative MPN patients than in unexposed. The most frequently altered genes in exposed to IR Ph-negative MPN patients were ASXL1, U2AF1, PEG3, LAMB4, NF1, JARID2, EZH2, DNMT3A, TET2 and ATM in addition to JAK2, MPL and CALR genes.
Product Description
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Вербиленко Роксана Миколаївна
Клімук Богдана Тарасівна
Неумержицька Любов Володимирівна
Полубень Лариса Олександрівна
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2020-04-02
