ВАСИЛИЙ ИВАНОВИЧ БЕРНИК (К СЕМИДЕСЯТИЛЕТИЮ)

This work is devoted to the seventieth Doctor of Physical and Mathematical Sciences, Professor Vasily Ivanovich Bernik. In her curriculum vitae, a brief analysis of his scientific work and educational and organizational activities. The work included a list of 80 major scientific works of V.I. Bernik.Данная работа посвящена семидесятилетию доктора физико-математических наук, профессора Василия Ивановича Берника. В ней приводятся биографические данные, краткий анализ его научных работ и педагогической и организационной деятельности. В работу включён список из 80 основных научных работ В. И. Берника

ГЕНЕТИЧЕСКИЕ БИОЛОГИЧЕСКИЕ МАРКЕРЫ ГЛИАЛЬНЫХ ОПУХОЛЕЙ ГОЛОВНОГО МОЗГА: МУТАЦИИ В ГЕНАХ ИЗОЦИТРАТДЕГИДРОГЕНАЗ 1 И 2

Introduction. Mutations in the isocytrate dehydrogenase 1 and 2 genes (IDH1 and IDH2) are considered driver genetic events in gliomas. Their frequency reaches 7080 % in low-grade gliomas and in secondary glioblastomas, and their oncogenic effect is realized by accumulation of the metabolite 2-hydroxyglutarate, which disrupts DNA and protein methylation processes. The aim of the study was to analyze the associations between the presence of IDH1/2 mutations and clinical and morphological parameters of glial tumors. Material and Methods. The study included 147 patients with glial brain tumors. Associations between IDH1/2 status and tumor histological type, age of disease onset, tumor localization, and clinical manifestations were investigated. Results. Gliomas containing IDH1/2 mutations were characterized by a younger age at diagnosis (mean: 39.5 years) compared to IDH-negative cases (47.2 years) (p<0.01). IDH1/2-mutated tumors were more often localized in the frontal (53.4 %) and parietal lobes (61.3 %) than in the other areas of the brain (p<0.05). It was demonstrated that the incidence of epilepsy was significantly higher among patients with IDH1/2 genetic defects (69.2 % vs. 48.2 %, p<0.05). Patients with IDH1/2 mutations had more favorable course of the disease. Among individuals with a combination of these factors (localization of the tumor in the frontal or parietal lobe, presence of epilepsy, age younger than 39 years), the frequency of IDH1/2 mutations reached 21/27 (77.8 %), which was significantly higher than that in all other patients (44/119 (37.0 %), OR = 5.97, 95 % CI: 2.2415.91, p<0.001). Conclusion. The presence of IDH1/2 genetic defects is associated with localization of glial tumors in the frontal and parietal lobes of the brain, earlier age at disease onset and the presence of epileptic syndrome.Актуальность. Мутации в генах изоцитратдегидрогеназ 1 и 2 (IDH1 и IDH2) относятся к «драйверным» генетическим событиям при глиомах. Их частота достигает 70–80 % в глиомах низкой степени злокачественности и во вторичных глиобластомах, а онкогенный эффект реализуется путем избыточного накопления метаболита 2-гидроксиглутарата, нарушающего нормальные процессы метилирования ДНК и белков в клетках. Цель исследования – проанализировать ассоциации между наличием мутаций IDH1/2 и важнейшими клинико-морфологическими параметрами глиальных опухолей. Материал и методы. В исследование вошло 147 пациентов с глиальными опухолями головного мозга. Была изучена связь мутаций IDH1/2 с гистологическим типом, возрастом начала заболевания, локализацией опухоли, клиническими проявлениями глиом. Результаты. Установлено, что для cодержащих мутации IDH1/2 глиом характерен более молодой возраст установки диагноза (39,5 лет) по сравнению с IDH-негативными случаями (47,2 года) (p<0,01). Обнаружено, что опухоли с повреждениями IDH1/2 значительно чаще локализуются в лобной (53,4 %) и теменной долях (61,3 %), чем в других областях головного мозга (p<0,05). Продемонстрировано, что частота развития эпилепсии значительно выше среди пациентов с IDH1/2-мутациями (69,2 % vs 48,2 %, p<0,05). У больных с мутациями IDH1/2 также зафиксировано более благоприятное течение заболевания. При сочетании перечисленных факторов (локализация опухоли в лобной или теменной доле, наличие эпилепсии, возраст моложе 39 лет) частота мутаций IDH1/2 достигла 21/27 (77,8 %) и оказалась намного выше, чем у остальных пациентов (44/119 (37,0 %), OR=5,97, 95 % CI: 2,24–15,91, p<0,001). Заключение. Присутствие генетических дефектов IDH1/2 ассоциировано с локализацией глиальных опухолей в лобной и теменной долях головного мозга и с клиническими прогностическими факторами, такими как возраст начала заболевания и наличие эпилептического синдрома

Balo's concentric sclerosis: a clinical case

This paper describes a case of Balo's concentric sclerosis, a rare demyelinating disease of the central nervous system (CNS), which is currently classified as multiple sclerosis. In recent years, there has been a more favorable clinical course of Balo's sclerosis. The significant polymorphism of clinical manifestations of the disease, its neuroimaging pattern, and laboratory tests cause difficulties diagnosing this pathology. Its differentiation with CNS tumors presents a particular challenge. So it also happens in the described clinical case, when computed tomography revealed the signs of space-occupying lesion, the histological pattern of concentric focus biopsy specimen indicated the presence of protoplasmic astrocytoma. However, immunohistochemical analyses of the biopsy specimen, immunological examination of cerebrospinal fluid, as well as the typical magnetic resonance imaging changes of Balo's sclerosis could suggest the demyelinating nature of the pathological process. The article shows that immunohistochemical techniques for examining a brain biopsy specimen and immunological assays of blood and cerebrospinal fluid are of great diagnostic value

Breast cancer biomarker (ER, PR, HER2) changes in the phenotype after neoadjuvant treatment

Objective: to study the breast cancer phenotype (ER/PR, FOXA1, HER2, Ki67) and the dynamics of changes in these markers in the tumour before and after neoadjuvant chemotherapy (NAT), compare them with metastases in the regional lymph nodes (LN). Materials and methods. The subject of the study was a group of patients with breast carcinomas receiving NAT according to the TAC and TC regimens, who had metastases in regional LUs in the course of the treatment (urN1,2,3). Results. Patients were divided into three groups. The first group (n = 11, primary tumour and tumour after NAT). The conversion of hormone receptor expression was both upward (37.5%) and downward (62.5%). Expression of HER2 has only changed upward by 36.4%.The second group (n = 32, residual tumour and regional metastases). The conversion of hormonal receptors was reported in 12.5%. Expression of HER2 has changed by 21.87%. In the third group (n = 11, the primary tumour before the onset of NAT and metastasis in LN after treatment). Conversion of ER in 18.2% in the form of a total loss, PR in 54.5%. Expression of HER2 increased by 45.5%. Expression of FOXA1 remained stable in all cases after NAT, where expression of hormonal receptors decreased or disappeared. Conclusions. In the era of personalized therapy and NAT, it is required to conduct a pathomorphological study of the immunohistochemical status of metastases in LN, since the hormone receptor status changes in almost 20% of cases, with the signal pathway for steroid hormone receptors remaining unchanged. The HER-2 oncoprotein expression status changes in almost half of cases when comparing the primary biopsy and metastasis after NAT

GENETIC BIOMARKERS OF GLIAL BRAIN TUMORS: IDH1 AND IDH2 MUTATIONS

Introduction. Mutations in the isocytrate dehydrogenase 1 and 2 genes (IDH1 and IDH2) are considered driver genetic events in gliomas. Their frequency reaches 7080 % in low-grade gliomas and in secondary glioblastomas, and their oncogenic effect is realized by accumulation of the metabolite 2-hydroxyglutarate, which disrupts DNA and protein methylation processes. The aim of the study was to analyze the associations between the presence of IDH1/2 mutations and clinical and morphological parameters of glial tumors. Material and Methods. The study included 147 patients with glial brain tumors. Associations between IDH1/2 status and tumor histological type, age of disease onset, tumor localization, and clinical manifestations were investigated. Results. Gliomas containing IDH1/2 mutations were characterized by a younger age at diagnosis (mean: 39.5 years) compared to IDH-negative cases (47.2 years) (p<0.01). IDH1/2-mutated tumors were more often localized in the frontal (53.4 %) and parietal lobes (61.3 %) than in the other areas of the brain (p<0.05). It was demonstrated that the incidence of epilepsy was significantly higher among patients with IDH1/2 genetic defects (69.2 % vs. 48.2 %, p<0.05). Patients with IDH1/2 mutations had more favorable course of the disease. Among individuals with a combination of these factors (localization of the tumor in the frontal or parietal lobe, presence of epilepsy, age younger than 39 years), the frequency of IDH1/2 mutations reached 21/27 (77.8 %), which was significantly higher than that in all other patients (44/119 (37.0 %), OR = 5.97, 95 % CI: 2.2415.91, p<0.001). Conclusion. The presence of IDH1/2 genetic defects is associated with localization of glial tumors in the frontal and parietal lobes of the brain, earlier age at disease onset and the presence of epileptic syndrome