DOI: https://doi.org/10.22263/2312-4156.2018.5.94
Pashkevich A.M.1, Smirnov S.Y.1, Davydov D.A.2, Antonenkova N.N.1
The prognostic value of IDH1 and TERT genes mutation status in glial brain tumors
1N.N. Alexandrov National Cancer Centre of Belarus, Minsk, Republic of Belarus
2Belarusian State Medical University, Minsk, Republic of Belarus
Vestnik VGMU. 2018;17(5):94-101.
Abstract.
The article shows that the most significant factors affecting the survival of patients with glial brain tumors are grade, presence/absence of IDH1 gene mutation, and age. The values are statistically significant (p<0,001). A method of IDH1 R132H gene mutation detection using allele-specific (AS) PCR method was proposed. The mutations were detected in 36/95 (37,9%) cases by means of sequencing and in 38/95 (40%) cases by means of PCR method. The results for IDH1 R132H gene mutation coincided in 94,7% of cases. In two cases PCR found R132H mutation, which testifies to a higher analytical sensitivity of AS PCR method. In one case R132G mutation was detected by means of sequencing (one case of grade III anaplastic astrocytoma, and one case of grade II astrocytoma). The diagnostic sensitivity of the proposed AS PCR method is 95%, its analytical sensitivity is 10%. The role of Rs2853669 polymorphism as a prognostic factor of the increase in the survival of patients with TERT-mutated glioblastoma was proved, making it possible to include the patients in risk groups with favourable and unfavourable prognosis.
Key words: glial tumors, brain, molecular-genetic studies, allele-specific PCR, Sanger sequencing.
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Information about authors:
Pashkevich A.M. – the fourth-year postgraduate, biologist of the oncologic department of genetics of the Republican Molecular-Genetic Laboratory of Carcinogenesis, N.N. Alexandrov Natinal Cancer Centre of Belarus;
Smirnov S.Y. – biologist of the oncologic department of genetics of the Republican Molecular-Genetic Laboratory of Carcinogenesis, N.N. Alexandrov Natinal Cancer Centre of Belarus;
Davydov D.A. – Candidate of Medical Sciences, lecturer of the Chair of Pathologic Anatomy, Belarusian State Medical University;
Antonenkova N.N. – Doctor of Medical Sciences, associate professor, deputy director for scientific work, N.N. Alexandrov Natinal Cancer Centre of Belarus.
Correspondence address: Republic of Belarus, 223040, Minsk district, agrogorodok Lesnoy, N.N. Alexandrov National Cancer Centre of Belarus, the oncologic department of genetics, Republican Molecular-Genetic Laboratory of Carcinogenesis. E-mail: Этот адрес электронной почты защищён от спам-ботов. У вас должен быть включен JavaScript для просмотра. – Anastasiya M. Pashkevich.
