Registration Number
0220U100183,
0117U000625
, R & D reports
Title
Molecular genetic characteristics of Ph-negative myeloproliferative neoplasia in individuals exposed to ionizing radiation from the Chernobyl accident
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Head
Клименко Сергій Вікторович,
Registration Date
13-01-2020
Organization
State Institution «National Research Centre For Radiation Medicine of National Academy of Medical Sciences of Ukraine»
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Object of the study - information on clinical, hematological, molecular-genetic parameters of patients with Ph-negative myeloproliferative neoplasia (MPN), including those who underwent ionizing radiation (IR) due to the Chernobyl accident. Purpose: To determine the molecular-genetic features of Ph-negative MNPs, including the mutational status of the JAK2, MPL, CALR, BRCA2, FANCD2, ASXL1, PTPN11 genes in persons affected by the Chornobyl accident in order to improve their diagnostic efficiency. Research methods: general clinical, anamnestic, clinical-hematological, molecular-genetic, statistical. Molecular-genetic alterations of the genome of patients with radiation-associated and spontaneous MPN were determined. It was found that patients with radiation-associated MPN with negative status for the presence of driver mutations in the JAK2, MPL, and CALR genes were found to be higher than patients with spontaneous (27.8% vs. 16.2%, respectively, p = 0, 0366). The V617F mutation frequency of the JAK2 gene in patients with spontaneous MPN was higher than in the radiation-associated MPN group, accounting for 75.4% and 58.4%, respectively. The mutation frequency of the CALR-type1 gene in patients with radiation-associated MPN was higher than in patients with spontaneous (12.2% vs. 3.1%, p = 0.006). The influence of the carrier of detected mutations on the course of the disease (splenomegaly, increased thrombotic complications, cases of transition to acute leukemia and transfusion dependence) in patients suffering from IP due to Chornobyl accident and in patients with spontaneous MES was investigated. . More pathogenic and potentially pathogenic variants of the ASXL1, U2AF1, PEG3, LAMB4, NF1, JARID2, EZH2, DNMT3A, TET2 and ATM gene mutations with JAK2, MPL, and CALR gene mutations have been identified in patients with radiation.
Product Description
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Verbylenko Roksana M.
Klimuk Bogdana T.
Neumerzhitska Lyubov V.
Poluben Larysa O.
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2020-04-02
