The severe heterogeneity of ovarian carcinomas on the molecular genetic level is associated with the absence of specific markers of chemoresistance. At the same time, ascites is an attractive biomarker detection fluid because it is easily obtained. The review is dedicated to the latest advances in the study of components characteristics of ascitic fluid in terms of their relationship with chemoresistance. Оwn data are submitted regarding the contents of the IFR system parameters (free IGFs, as well as IGFBP-3, IGFBP-4 and PAPP-A) in ascitic fluids and tumor tissue in disseminated ovarian cancer, which show the importance of their study. It is shown that the proteins level of the IGF system substantially depend on the volume of ascitic fluid. Studying the features of ascitic fluid in ovarian cancer is directly related to the prospect of new opportunities for disseminated ovarian cancer treatment.

Lynch syndrome was synonymous with hereditary non-polyposis colorectal cancer for a long time, however, mapping of the DNA mismatch repair (MMR) genes has led to distinguish Lynch syndrome as an independent syndromic unit from a number of Lynch-like syndromes that phenotypically mimic with the most frequent hereditary variant of colon cancer but genetically representing quite a heterogeneous group. This article presents up to date clinical and genetic characteristics of Lynch syndrome and Lynch-like conditions.

Low grade gliomas are the most common brain tumors in children. Total resection for operable lesion helps to achieve local and system control. Nevertheless, for inaccessible tumors are required more effective treatment both to overcome the refractory course of the disease, and to mi nimize toxicity with conventional adjuvant chemotherapy and various types of radiation therapy. In recent years, there has been an accelerated understanding of the molecular pathogenesis of some tumors in children, including low grade gliomas. Given the fact that the basis of the molecular pathogenesis of the low grade gliomas is the activation of signaling pathways MARK (mitogen activated protein kinase) and mTOR (mammalian target of rapamycin), the most promising targeted agents are BRAF, MEK and mTOR inhibitors. Nevertheless, a number of other agents have been studied to find promising targeted therapy for this tumors type. This article summarizes the latest literature evaluating new drugs in low grade glioma.

Background. The correct genome replication is essential for normal cell division to guarantee that genetic information comes changeless through the next cells generations. DNA replication is a strictly regulated and synchronous process and its disturbances could result to mutations appearances. Aberrant time of DNA replication affects on gene expression causes changes of epigenetic modifications and influences on increasing the structural rearrangements leading to enhanced genome disbalance. Replication time failure as asynchronous replication is common for cancerogeneses.

The objective of our study was the assessment of asynchronous replication levels in patients with gastric cancer and patients with multiple tumors.

Materials and methods. Fluorescence in situ hybridization (FISH) was used for the asynchronous replication of AURKA and TP53 genes analyses. Interphase FISH on lymphocytes of peripheral blood of 37 healthy donors, 19 patients with non-cancer gastrointestinal pathologies, 68 patients with solitary gastric cancer and 39 patients with multiple tumors having gastric cancer and other second synchronous or metachronous tumor was carried out.

Results. Values of lymphocytes with asynchronous replication for AURKA were 19.8 ± 0.5 % for control group, 24.7 ± 0.4 % for non-cancer patients, 32.5 ± 0.5 % for gastric cancer patients, 39.5 ± 0.6 % for patients with multiple tumors and 17.3 ± 0.5, 19.5 ± 0.7, 26.1 ± 0.7 and 32.5 ± 0.6 % for TP53 respectively. Differences between cell populations of examined groups had statistical significance with p <0.01 for both studied gene. Also there was statistical difference between gastric cancer patients having distant metastases and gastric cancer patients without metastases for AURKA (34.4 ± 1.0 % vs. 31.7 ± 0.6 %; p = 0.02).

Conclusion. High lymphocytes with asynchronous replication level in oncological patients could serve as potential marker of second tumor or possible metastatic process including the earliest stage of it. 

Molecular genetic detection of CALR gene somatic mutations is required for myeloproliferative neoplasms diagnosis and treatment according to the novel WHO clinical recommendations. CALR mutations are found in approximately 25–35 % cases of essential thrombocythemia and primary myelofibrosis and they are associated with benign clinical outcome. In this study we have compared sensitivity and selectivity of seve ral different options of CALR mutation molecular genetic detection in blood samples of 379 CMD patients and 17 healthy donors. Among methods compared in our study there have been conventional polymerase chain reaction with electrophoretic detection, real-time quantitative polymerase chain reaction, direct Sanger sequencing of polymerase chain reaction fragments and polymerase chain reaction high resolution melting curve analysis. By means of melting curve analysis CALR mutations have been found in 97 (25.5 %) patients, whereas in the cases of Sanger sequencing and polymerase chain reaction there have been 87 (23.0 %) and 84 (22.1 %) CALR mutation positive patients respectively.

Background. Nowadays, BRCA-associated breast cancer occupies a special position in the choice of treatment strategy. Although, the drug treatment of such patients was almost the same as the treatment of sporadic disease. Of particular interest is the assessment of the deficit of homologous recombination, which may include various dysfunctions of the BRCA1 gene. Moreover, it has been shown that a decrease in the functional activity of BRCA1 is reflected in the sensitivity of the tumor to DNA damaging agents, and the prognosis of the disease becomes more favorable.

Objective: assessment of the association of BRCA1 gene expression in a breast tumor with the prognosis of the disease.

Materials and methods. The study included 111 patients with breast cancer T1–4N0–3M0 (stage IIA–IIIB), with a morphologically verified diagnosis. Initial and postoperative expression of BRCA1 in tumor material was evaluated. RNA was isolated from the tumor material before treatment and after neoadjuvant chemotherapy. The level of BRCA1 expression was assessed using reverse transcriptase quantitative real-time polymerase chain reaction.

Results. As a result of the study, long-term results of treatment of patients were evaluated depending on the level of BRCA1 gene expression. The presence of BRCA1 hypoexpression (level less than 1) in tumor tissue after neoadjuvant chemotherapy was found to be a favorable prognostic factor and is associated with high rates of metastasis-free survival (p = 0.0002). In addition, a similar result is shown for patients treated with the FAC (fluorouracil, doxorubicin, cyclophosphamide) neoadjuvant chemotherapy regimen (p = 0.005). Despite the absence of statistically significant differences, in 8 patients who underwent chemotherapy with the inclusion of platinum drugs, there was a low level of BRCA1 expression in a residual tumor and 100 % non-metastatic and overall survival.

Conclusion. Based on the data obtained, it can be assumed that the aberrant state of the BRCA1 gene (low expression) in a breast tumor may also be a promising marker for the prognosis of the disease, which confirms the undoubted relevance of the study, but also requires further detailed study.