Genetic Profile of Patients with Classical Ph-negative Chronic Myeloproliferative Diseases in the Republic of Sakha (Yakutia)

Background: Mutations in the JAK2, CALR, and MPL genes are key factors of the classical Ph-negative CMPD pathogenesis with demonstrated diagnostic and prognostic value. The aim of this research was to study the prevalence of JAK2, CALR, and MPL mutations in patients with CMPD and healthy individuals...

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Bibliographic Details
Published in:International Journal of Biomedicine
Main Authors: Tuiara N. Aleksandrova, Nadezhda I. Pavlova, Khariton A. Kurtanov, Inna I. Mulina, Vera N. Yadrikinskaya, Lena D. Terekhova, Irina E. Solovieva, Aleksandra T. Diakonova, Natalia A. Solovyeva
Format: Article in Journal/Newspaper
Language:English
Published: International Medical Research and Development Corporation 2020
Subjects:
chronic myeloproliferative diseases
gene
mutations
single nucleotide polymorphism
Medicine
R
Sakha
Republic of Sakha
Yakutia
Online Access:https://doi.org/10.21103/Article10(1)_OA8
https://doaj.org/article/28bf71a559dd40a7ab8a9c270f48b966
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Summary:Background: Mutations in the JAK2, CALR, and MPL genes are key factors of the classical Ph-negative CMPD pathogenesis with demonstrated diagnostic and prognostic value. The aim of this research was to study the prevalence of JAK2, CALR, and MPL mutations in patients with CMPD and healthy individuals in the Republic of Sakha (Yakutia) (RS(Y)). Methods and Results: The study included patients with previously confirmed diagnoses of PV (n=15), ET (n=16), and PMF (n=11) and 68 people with peripheral blood changes, suspected to have CMPD. The control group included 184 healthy volunteers. All patients and participants in the control group were genotyped according to the following SNPs: the JAK2 rs77375493 SNP, the CALR rs765476509 SNP, the CALR rs1450785140 SNP, the MPL rs121913616 SNP, and the MPL rs121913615. The prevalence of the JAK2V617F mutation among PV patients in the RS(Y) was 90.9%. Patients with ET in 61.3% of cases were carriers of the JAK2V617F mutation, in 6.4% of CALR mutations, and in 3.2% of the MPLW515L mutations. In PMF patients, the JAK2V617F mutation was detected in 64.7% of cases, and the Type 1 CALR mutation was detected in 17.6% of cases. Carriage of the JAK2V617F mutation was revealed in 1.1% of healthy individuals and in 4.4% of individuals with initial signs of a myeloproliferative process. Conclusion: Early molecular genetic testing will improve the timely diagnosis of CMPD and possibly reduce the number of complications.

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