The purpose of the study was to analyze the cancer incidence in the males born from 1932 to 1949 and living in rural settlements of the municipal districts of the altai Krai affected by the traces from semipalatinsk first nuclear test on august 29, 1949. Material and methods. an epidemiological retrospective cohort study was based on the analysis of anonymized data on newly diagnosed and morphologically verified cases of cancer in a male cohort for the period from 2007 to 2016. the study included a cohort fixed by the date of the first nuclear test with a total of 6383 males. in total, 633 cases were identified in the cohort with newly diagnosed and morphologically verified cancer. at the beginning of the study, all males were alive and had no previous diagnosis of cancer. For a comparative analysis of the cancer incidence, the main (exposed) cohort comprised 2 291 men, and the control cohort included 4 092 men, who lived in rural settlements of municipal districts of the region and were not tracked during the first nuclear test conducted at the semipalatinsk test site. the person-time incidence rate (ptR), standard error (mptR) and confidence intervals (95 % ci) were calculated. the incidence and the relative risk of developing cancer were assessed. statistical analysis was carried out using microsoft office 2016. Results. the number of person-years in the main cohort was 1 6731 person-years, and in the control was 30 747. The incidence rate of person-time (ptR) in the main cohort was 2 032.22 × 105 person-years, with mptR equal to 110.21 and confidence intervals (95 % ci) – (1 811.80–2 252.64). in the control cohort, the corresponding values were: ptR – 952.94 × 105 person-years with mptR – 55,67 and 95 % ci (841.60–1 064.28). the most common cancer localizations in men of the main cohort were: digestive organs (c15-c26), respiratory and chest organs (c30-c39), skin (c43-c44), male genitals (c60-c63). in the control group, the most common localizations were respiratory and chest organs (c30-c39), digestive organs (c15-c26), male genital organs (c60-c63) and skin (c43-c44). Conclusion. an increased relative risk of developing malignant neoplasms in men born and living in the altai territory during the first nuclear test conducted at the semipalatinsk test site was revealed (RR=2.133; 95 % ci 1.824–2.493) with standard error of relative risk (s) equal to 0.0797. there were differences in cancer localization between the main and the control cohorts.

Introduction. Transanal endoscopic microsurgery (tem) is a method that allows the specialists to clearly visualize a tumor and bimanually remove the tumor using a set of special instruments. For a number of patients with a good tumor response to chemoradiation therapy (crt), tem is used as an advanced biopsy technique for tumor verification. The purpose of the study was to analyze the results of tem performed at a. Tsyb mrrc. Material and methods. Between 2015 and 2020, 64 patients (men – 42.2 % and women – 57.8 %) underwent tem. Forty patients had rectal cancer and 25 patients had benign rectal tumors. The indication for tem in patients with rectal cancer was the evidence of tis-t1 tumor by postoperative examination findings (mri and endosonography). Eleven patients with stage ii–iii rectal cancer received chemoradiation therapy. The indication for performing tem after rt in patients with rectal cancer was a good tumor response (mri trg1- 2). For statistical processing, commercial biomedical packages prism 3.1 and instat (graphpad software, inc., san diego, usa) were used. The significance of the differences between the indicators was assessed using the pearson χ2 test. Differences were considered significant if the p value was less than 0.05. Results. The median duration of surgery was 110 minutes (30–385). The volume of blood loss did not exceed 40 ml. Postoperative complications were observed in 15 cases (23.4 %). Grade 3 complications according to the clavien-dindo classification were observed in 5 (7.8 %) cases. Postoperative complications occurred more frequently in patients after crt (10.7 and 18.2 %; p=0.603), however, the differences were not statistically significant. At a median follow-up of 18 months (7–30), local relapses developed in 6 out of 26 (23 %) patients who underwent surgery alone. There were no signs of local recurrence in patients with adenocarcinomas after neoadjuvant chemotherapy and rectal adenomas. When comparing patients with the depth of tumor invasion tis-t1sm2 and t1sm3-t2, local relapses occurred in 1 of 21 (4.7 %) and 5 of 12 (41.6 %) cases, respectively (p=0.015). Conclusion. The analysis of the results of tem interventions in patients with rectal neoplasms allows us to conclude that this method of treatment is a priority for patients with benign rectal neoplasms and early rectal cancer. The method can also be used after rt or crt in patients with tumor invasion ≥t1sm3, provided a complete or almost complete tumor response to the treatment.

The purpose of the study: to analyze short-term efficacy and tolerability of preoperative chemotherapy in patients with upper ampullary rectal carcinoma. Material and methods. A prospective study conducted at the cancer research institute (tomsk, russia) between 2018 and 2020 included 47 patients with operable cancer of the upper ampullary part of the rectum with mrt3n0m0 (mesorectal fascia involvement (crm+) or low-grade cancer), mrt4аn0m0 and mrt3–4аn1m0. All patients were divided into two groups. Group i comprised 22 patients, who received 3 cycles of chemotherapy with folfox-4 followed by surgery. Group ii consisted of 25 patients, who underwent surgery alone. All patients underwent arterior resection of the rectum. Results. Group i patients completed all three cycles of preoperative chemotherapy. Downstaging after chemotherapy was observed in 16 (72.7 %) patients. No severe side effects of chemotherapy were found. The frequency of radical surgeries (r0) was 100 %. No significant differences in the rate of postoperative complications between the treatment groups were observed (18.2 % and 16 %, respectively, p>0.05). There were no cases of postoperative mortality. Conclusion. Compared with surgery alone, preoperative chemotherapy followed by surgery demonstrates a high short-term efficacy, does not adversely affect the course of the perioperative period.

Background. The increased volume of the prostate in patients with confirmed prostate cancer (pc) is observed in 10 % of cases. The limitations of external beam radiotherapy and brachytherapy associated with large prostate volume and obstructive symptoms define radical prostatectomy (Rp) as the only possible treatment for prostate cancer in these patients. The purpose of the study was to determine the importance of the surgical approach in radical prostatectomy in patients with abnormal anatomy of the prostate. Material and methods. The study group consisted of patients with a prostate volume of more than 80 cm3 (n=40) who underwent a robot prostatectomy. The comparison group was represented by patients also selected by the prostate volume ≥ 80 cm3, who underwent classical open prostatectomy (n=44). The groups were comparable in age and psa level. The average prostate volume in the study group was 112.2 ± 26 cm 3(80–195 cm 3). The average prostate volume in the comparison group was 109.8 ± 18.7 cm3 (80–158 cm 3) (р>0.05). Both groups had favorable morphological characteristics. Results. The average surgery time difference was 65 minutes in favor of the open prostatectomy (p<0.05). The average blood loss volume in the study group was 282.5 ± 227.5 ml (50–1000 ml). The average blood loss volume in the group with open prostatectomy was 505.7 ± 382.3 ml (50–2000 ml). Positive surgical margin in the robotic prostatectomy was not detected, at 6.9 % in the group with open prostatectomy (p<0.05). According to the criterion of urinary continence, the best results were obtained in the group of robotic prostatectomy (p<0.05). Overall and relapse-free 5-year survival did not show a statistically significant difference. Conclusion. The use of robotic prostatectomy in a group of patients with a large prostate volume (≥ 80 cm3) allows us to achieve better functional and oncological outcomes.

Hypermethylation of the RcgY sites is shown for many cancer diseases. such aberrant methylation, suppressing the gene activity, occurs at early stages of carcinogenesis. Recently, using glad-pcR assay, we have detected aberrantly methylated RcgY sites, which can be considered to be epigenetic markers of colorectal, lung, and gastric cancers. in breast cancer, methylation of the regulatory regions of ALX4, BMP2, CCND2, CDH13, CDX1, FOXA1, GALR1, GATA5, GREM1, HIC1, HMX2, HS3ST2, HOXC10, ICAM5, LAMA1, RARB, RASSF1A, RUNX3, RXRG, RYR2, SFRP2, SOX17, TERT, and ZNF613 tumor-suppressor genes is reported. in the present work, we determined aberrantly methylated RcgY sites in the regulatory regions of these genes in dNa preparations from breast cancer tissues. the study of dNa samples from 30 tumor and 22 normal mammary tissue samples demonstrates a high diagnostic potential of selected R(5mc)gY sites in regulatory regions of CCND2, BMP2, GALR1, SOX17, HMX2, and HS3ST2 genes with total index of sensitivity and specificity for R(5mc)gY detection in tumor dNa 90.0 % and 100.0 %, respectively.

Introduction. Intratumor heterogeneity is one of the key reasons for unfavourable prognosis in malignant tumors. Astrocytic tumors are known to develop therapy resistance inevitably during the course of disease. One of possible reason is tumor heterogeneity. Purpose. The aim of this work was to assess the intratumor morphologic and molecular heterogeneity in diffuse astrocytoma, anaplastic astrocytomas and primary glioblastomas. Material and methods. We conducted morphologic (n=22) and molecular-genetic (n=8) analysis of surgical specimens obtained from primarily operated glioblastoma giv (gb), anaplastic astrocytomas giii (aa) and diffuse astrocytoma gii (da) patients aged 18 years and older in whom total or subtotal tumor resection was performed. Tissue sampling for the analysis was performed from 5 equidistant areas of each tumor. Morphologic diagnosis was established according to who classification of central nervous system tumors (2007/2016). Mgmt, c-kit, top2a, pdgfr-α, ercc1, vegf genes mrnaexpression was assessed by rt-pcr. Idh1 and idh2 mutational status was evaluated by allele-specific pcr. Results. Morphologic heterogeneity was evident in 72,7 % tumors (16/22) overall. Heterogeneity was observed in 68,8 % (11/16) of gb, 80 % (4/5) of aa and in the only case of da. In 50 % of cases at least 3 different morphologic variants were seen in different areas of the tumor. This morphologic heterogeneity presented as the combination of different grades of anaplasia (gii – giv) in one tumor. Molecular profile was assessed in 48 expression analysis of genes: mgmt, c-kit, top2a, pdgfr-α, ercc1, vegf from 8 patients. Intratumoral molecular heterogeneity was revealed in 41,7 % of cases (20/48). Conclusion. The presence of intratumoral heterogeneity should be taken into account during surgery for adequate tumor sampling for histologic and molecular analysis which is critical for proper assessment of prognosis and following treatment planning.

Introduction. Recently, the he-4 protein has received great attention due to its diagnostic and prognostic abilities in epithelial ovarian cancer. In addition to its diagnostic value, this protein is involved in the pathogenesis of ovarian cancer. Another significant pathogenetic factor is the vascular endothelial growth factor (vegf) which plays a key role in neoangiogenesis. The purpose of the study focused on the analysis of he-4 and vegf-a levels in tissues of ovarian cancer, in healthy contralateral ovaries and in common metastatic tumors in the omentum and peritoneum to determine the place and role of these tumor markers at the stages of carcinogenesis. Material and methods. The study was performed using the abovementioned tissues of 93 patients with t2-3nхm0-1 ovarian cancer. 51 patients underwent surgery followed by chemotherapy. 42 patients received initial neoadjuvant chemotherapy followed by surgery and adjuvant cytostatic therapy. Tissue samples from 17 patients with benign diseases were used as the control for determining the reference values for he-4 and vegf-a. A comparison was made between groups of patients with and without neoadjuvant therapy, as well as in groups of patients depending on the effectiveness of cytostatic treatment. Results. The levels of he-4 in primary and metastatic tissues affected and not affected by cancer were initially elevated in patients with ovarian cancer. The chemotherapy effectiveness directly correlated with the level of he-4 reduction, which did not change or increased in tumors resistant to medical treatment. The level of vegf-a significantly differed in cancer and non-cancer tissues, which indicated its significant pathogenetic effect not “before”, but at the stages of morphological malignization. The dynamics of vegf-a decrease in this study did not depend on the chemotherapy effect. Conclusion. The he-4 marker is a pathognomonic factor in the development of ovarian cancer, preceding morphological signs of malignancy and reflecting the effectiveness of chemotherapy, while vegf-a is most likely a consequence of the cancer development.

In our study we carried out an exploratory assessment of the antitumor activity of hyperthermic intraperitoneal perfusion (Hipep) with 0.9 % sodium chloride solution and compared it with the effect of a single normothermic intraperitoneal (i.p.) Administration of cisplatin in the maximum tolerated dose (mtd). Thirty-six mature female Wistar rats with transplanted i.p. Syngeneic ovarian carcinoma were randomized into three groups: control group (2 ml of 0.9 % sodium chloride i.p. At room temperature, n=12); cisplatin group (cisplatin 4 mg/kg i.p. At room temperature, n=12); Hipep group (open i.p. Perfusion with 0.9 % sodium chloride solution at a temperature of 40,5–41,5 °c for 45 minutes, n=12). The primary endpoint was the overall survival (os) of the animals in each of the three groups. The total peritoneal cancer index (pci), weight and degree of ascites haemorrhagia were assessed at autopsy. The median os in the control group, Hipep, and cisplatin was 19, 39, and 40 days, respectively (log-rank test р<0.0001). In comparison to the control group, the differences were statistically significant for both cisplatin (HR=0.22; 95 % ci: 0.08–0.62; log-rank test р<0.0001) and Hipep (HR=0.32; 95 % ci 0.13–0.82; log-rank test р=0.0013). There were no differences in os between the cisplatin and Hipep groups (log-rank test р=0.4853). The Hipep procedure was associated with a significant decrease in total pci, a tendency towards a decrease in the ascites weight and a higher severity of haemorrhagia. In terms of os, local hyperthermia, provided by Hipep without a cytostatic drug, was comparable with single normothermic i.p. Administration of cisplatin in mtd and exceeded the effects of the latter in relation to the development of peritoneal carcinomatosis.

Background. Orbitomaxillary resection includes exenteration of the orbital contents with resection of the inferior orbital and medial walls. The main goals are: reconstruction of soft tissue and bone structure defects, tamponade of the orbital cavity and/or its preparation for further ocular prosthetics, and reconstruction of the skull base defect. The purpose of the study to present the immediate results of orbitomaxillary resections in patients with malignant neoplasms of the skull base and midface. Material and methods. Between 2014 and 2020, 6 patients who previously underwent surgery for primary cancer (n=3) and recurrent cancer (n=3) were treated at the Head and Neck cancer department of N.N. Blokhin National medical Research center of oncology. To reconstruct defects after resection of bone structures (maxilla, frontal and nasal bones) and skin, a musculocutaneous alt-flap was used in 3 (50 %) cases and a fascial skin radial flap in 3 (50 %) cases. Results. The aesthetic result was assessed in 6 patients. In all cases, a satisfactory result was obtained. None of the patients who underwent resection of the dura mater followed by reconstruction had no symptoms of liquorrhea in the postoperative period. Conclusion. Flap selection depends on the defect size. In cases with a small defect size (up to 70 cm3), reconstruction with the radial fascial skin flap can be performed. If the defect size is more than 71 cm3, reconstruction with musculocutaneous alt flap can be the method of choice.

Background. Breast cancer is the most frequently diagnosed and life-threatening cancer in women worldwide. Since the disease diagnosis and treatment have improved greatly over time, quality of life has become an important outcome measure in breast cancer clinical investigations. The goal of the study was to analyze quality of life in women with breast cancer and to conduct a meta-analysis of data indicating the need for psychological support aimed at improving the quality of life in breast cancer patients. Material and methods. The study involved 186 women who were diagnosed with breast cancer no earlier than 6 months from the date of the survey. All patients had a luminal type of tumor. To study the quality of life of women with breast cancer, the sf-36 (36-item short-Form Health survey) questionnaire recommended by the international protocol was used. Results. Comparative analysis of standardized indicators of the quality of life indicats that the quality of life of women with breast cancer is significantly lower than that of women from the population (p<0.05). This result requires attention from both social/psychological services and physicians, due to the fact that the general indicator of the quality of life is associated with the prognosis of survival. The essence of providing psychological support to women with breast cancer is not only to alleviate their moral and psychological suffering, but also to enhance the effect of treatment and, as a result, increase survival. The authors come to the conclusion that it is necessary to include psychological rehabilitation programs in the protocol for treating women with breast cancer to enhance the effect of treatment, improve the quality of life.

Gastric cancer (gc) is one of the most common cancers worldwide. The majority of newly diagnosed gastric cancer cases present with distant metastases. Peritoneal carcinomatosis (pc) is the most unfavorable type of progression of primary gc, which occurs in 14–43 % of patients. The purpose of the study was to highlight modern approaches to the treatment of gc with pc. Material and methods. We analyzed 136 publications available from pubmed, medline, cochrane library, and elibrary databases. The final analysis included 46 studies that met the specified parameters. Results. The modern approaches to the treatment of gc with peritoneal carcinomatosis were reviewed, namely: cytoreductive surgery (crs), combination of cytoreductive surgery and hyperthermic intraperitoneal chemotherapy (crs/hipec); neoadjuvant intraperitoneal/systemic chemotherapy (nips) and pressurized intraperitoneal aerosol chemotherapy (pipac). The results of large randomized trials and meta-analyses were analyzed. Benefits and limitations of these trials were assessed. Conclusion. The peritoneal cancer index (pci) and the level of cytoreduction are two key prognostic factors for increasing the median overall survival. By reducing tumor volume through cytoreductive surgery, it is possible to allow tumor cells to re-enter the proliferative phase of the cell cycle and make them more sensitive to antitumor agents. The hematoperitoneal barrier is the main reason that prevents the effective delivery of drugs from the systemic bloodstream to the abdominal cavity, which is why the effect of systemic chemotherapy on peritoneal metastases is extremely limited. Intraperitoneal chemotherapy offers a more effective and intensive regional therapy, creating a so-called «depot» of a chemotherapy drug, thereby prolonging the effect of the administered drugs. Cytoreductive surgery combined with hyperthermic intraperitoneal chemotherapy (crs + hipec) using the combination of surgical resection, cytotoxic chemotherapy, hyperthermic ablation of the tumor and hydrodynamic flushing, is a promising approach in the treatment of gc with peritoneal carcinomatosis.

The purpose of the study was to conduct a systematic review of data on the role of heart failure (HF) in the development of cancer, as well as to discuss problems dealing with diagnosis and treatment of heart failure in cancer patients. Material and methods. A literature search was conducted using the Cochrane library, elibrary, medline, and embase databases over the past 7 years. The general mechanisms of heart failure and cancer, cardiotoxicity risk factors, and some aspects of the diagnosis and treatment of HF in cancer patients were analyzed. Results. The literature analysis indicates that cardiovascular disease and cancer have common risk factors. Several common pathophysiological mechanisms that associate HF with cancer have been identified. They include inflammation, oxidative stress, and neurohomonal activation. HF is known to be a common complication of aggressive cardiotoxic cancer therapy that can aggravate or trigger existing HF. Recent epidemiological studies have shown that the development of cancer is more common among patients with pre-existing HF. Although the reason for this relationship has not yet been identified, it is assumed that HF may be a pro-oncogenic condition. There are several strategies to prevent and treat toxicity of various chemotherapeutic drugs. They are all based on accurate patient selection, short- and longterm follow-up, and therapies that can prevent and delay cardiac dysfunction. Conclusion. The main goal of cardio-oncology is to prevent and treat of cardiotoxic effects of chemotherapy drugs. In this context, elucidation of the underlying mechanisms plays an important role in the development of strategies for the prevention of chemotherapy-associated cardiomyopathy. It is necessary to pay attention to the fact that there is more and more evidence that patients with HF have high risks of developing cancer, thereby requiring more attention. In general, understanding the direct and indirect mechanisms of the relationship between HF and cancer can help in the prevention and early diagnosis of these diseases.

Background. The first-generation trk inhibitors, larotrectinib and entrectinib, were approved by the u.s. Food and drug administration (Fda) for the treatment of advanced solid tumors harboring NTRK gene fusions in November 2018 and in august 2019, respectively. The purpose of the study was to present upto-date data on the structure and functions of ntrk genes, the frequency of occurrence of rearrangements with their participation, the consequences of their occurrence at the cellular level, methods of detecting such rearrangements, as well as targeted drugs used in the presence of chimeric NTRK genes. Material and methods. A systemic literature search was conducted in pubmed ncbi, Web of science, scopus databases. Results. The products of NTRK genes are receptors for neurotrophins, and their high expression is normally observed only in a narrow range of tissue types. Intrachromosomal or interchromosomal rearrangements lead to a significant increase in the level of expression of the chimeric gene regulated by the strong promoter of the partner gene. The high transcriptional activity of such a gene, along with the constant activation of the kinase activity of the protein product, leads to the activation of metabolic pathways responsible for cell escape from apoptosis and disruption of the regulation of the cell cycle. The occurrence of chimeric NTRK genes varies between different types of tumors, with the highest (up to 90 %) in rare cancers (secretory carcinoma of the breast, secretory carcinoma of the salivary glands, congenital mesoblastic nephroma, children’s fibrosarcoma). Larotrectinib and entrectinib are highly effective targeted drugs in suppressing the growth of a tumor carrying NTRK rearrangements, regardless of the type of tumor. In this regard, the introduction of new high-precision methods for the detection of chimeric NTRK genes, as well as the study of the mechanisms of the development of resistance with the assumption of ways to overcome it, seems relevant. Conclusion. Rearrangements of NTRK genes are quite common in various types of oncology and are an effective target for modern targeted drugs.

The aim of the study was to analyze and summarize available literature data on the role of autophagy in thyroid cancer. Material and methods. We analyzed 34 publications available from pubmed and elibrary. Ru databases concerning thyroid cancer and autophagy. Results. The review discussed the role of autophagy in the progression of thyroid cancer. The development of autophagy-targeted therapy was shown can improve treatment for thyroid cancer. Differentiated thyroid cancer (dtc) is the most common endocrine malignancy. Treatment of dtc patients who are resistant to radioactive iodine therapy is a major challenge. Molecular targeted therapy using tyrosine kinase inhibitors significantly improves treatment outcomes. Conclusion. To enhance the therapeutic effect of treatment with multi-target tyrosine kinase inhibitors, as well as to overcome drug resistance, it is necessary to study the role of autophagy in the development and progression of thyroid cancer.

The humanization of immunodeficient animals allows us to study the growth of xenografts of human malignant tumors and their response to therapeutic effects, taking into account processes in the immune system and tumor zone, which have a significant impact on oncogenesis and the effectiveness of antitumor therapy. Such experimental models are currently considered as the most advanced tool in the development of personalized antitumor treatment. The lines of immunodeficient animals most commonly used for the transplantation of mature and stem human immune cells have been characterized. The main sources of human immune cells when implementing the hu-pbl and hu-cd34+ models, as well as the blt model (as an option to the cd34+ model) are described. The basic procedures necessary for reproducing each model, their modification in adult and newborn animals are outlined as well as the parameters of immunosuppressive radiation exposure, preceding the transplantation of human hematopoietic stem cells. The main results of the humanization of immunodeficient animals and examples of the use of these models for the purposes of fundamental and clinical oncology are described. The main problems of this direction are discussed. The review is based on an analysis of the literature presented in the scopus, web of science, medline, risc and others databases over the past 7 years (over 80 % of literature sources, with more than over 50 % of studies published over the last 3 years).

The novel corona virus disease 2019 (covid-19) is currently a global threat. Cancer patients constitute a group that is at high risk of covid-19 infection with a more severe disease course and higher mortality rate. Case description. We report a case of covid-19 occurring concurrently with B-cell acute lymphoblastic leukemia (all) in a young male patient. After verification of the morphological and immunophenotypic profiles of leukemia, the patient receivedall treatment (all-2009 protocol) with concurrent administration of antiviral and antibacterial drugs, as well as immunoglobin replacement therapy. Neutropenia caused by cytostatic treatment led to the progression of lung damage and respiratory failure, which required the withdrawal of cytostatic drugs. The patient was transferred to the intensive care department, where dexamethasone therapy as well as antibacterial and antifungal therapy was continued. Since the lung damage reached 75 % and respiratory failure began to increase, non-invasive ventilation of the lungs was started. Clinical and hematological remission with hematologic recovery and subsequent pneumonia regression was achieved. However, long-term persistence of the virus was observed, and therefore the strategy for treating acute lymphoblastic leukemia was revised. Maintenance therapy with mercaptopurine and methotrexate was administered. After elimination of the virus on the 56th day from the initial positive test, therapy according to the all-2009 protocol was continued. Conclusion. The tactics of treating cancer patients with hemoblastosis during a pandemic should be selected individually with an assessment of the potential benefits and risk of life-threatening complications.

Background. Neurofibromatosis is a fairly rare disease (1/3000). In 1992, V. Riccardi described seven types of neurofibromatosis. Segmental neurofibromatosis (sh), also known as type V neurofibromatosis, is an extremely rare variant characterized by the development of typical cutaneous manifestations or one body segment neurofibromas. Clinical case. Currently, the literature describes about 100 cases of sh and only one of them with compression of the spinal cord. We present our first case of this nosological form with spinal cord compression in a Russian patient. A 70-year-old patient, due to an increasing paresis in the left extremities, underwent mri of the cervical spine, which revealed solid tumors located extramedullary intra-extradurally at the level of c2-c3 vertebrae with pronounced compression of the spinal cord. At the time of hospitalization, clinical presentation was characterized by deep spastic tetraparesis (1–2 points), impairment of all types of sensitivity from the c4 level by the conductive type, and dysfunction of the pelvic organs by the type of delay. Karnofsky index was 50 %, 2 points on the Fim scale. Standard c2-c3 vertebrae laminectomy was performed. Spinal cord compression was eliminated due to the removal of intradural tumors. Subsequently, extradural tumors were removed step by step. On histological examination, tumors were represented by intertwining bundles of elongated schwann cells with wavy nuclei with pointed ends and ileogenic fibers. Mucin present in the stroma separated cells and fibers. Conclusion. Sn is a rare type of neurofibromatosis. However, from the point of view of genetics, it is most likely incorrect to attribute it to a separate type of neurofibromatosis, since the cause of its development is mosaicism of somatic cells due to mutation of the NF 1 gene. Sn is rarely manifested by the development of spinal nerves multiple neurofibromas, however, it can be accompanied by a gross neurological deficit caused by compression of the spinal cord such neurofibromas. Surgical treatment is based on basic and special surgical principles that determine the anatomical and morphological characteristics of the area of intervention, the compliance of which allows for good treatment results.

Background. The identification of the ethnospecific mutations associated with hereditary breast cancer remains challenging. Next generation sequencing (Ngs) technology fully enables the compilation of germline variants associated with the risk for inherited diseases. Despite the success of the Ngs, up to 20 % of molecular tests report genetic variant of unknown significance (Vus) or novel variants that have never been previously described and their clinical significances are unknown. To obtain extended information about the variants of the unknown significance, it is necessary to use an alternative approach for the analysis of the Ngs data. To obtain extended characteristic about the unknown significance variants, it is necessary to search for additional tools for the analysis of the Ngs data. Material and methods. We reclassified the mutation of the unknown significance using the activedrivedb database that assessed the effect of mutations on sites of post-translational modifications, and the proteinpaint tool that complemented the existing cancer genome portals and provided a comprehensive and intuitive view of cancer genomic data. Results. In this study, we report a 44-year-old tuvinian woman with a family history of breast cancer. Based on the Ngs data, mutational analysis revealed the presence of the lrg_321t1: c.80c>t heterozygous variant in exon 2, which led to the proline to leucine change at codon 27 of the protein. In the dbpubmed database, this mutation was determined as unknown significance due to data limitation. According to the data of the activedriverdb tool, this mutation is located distally at the site of post-translational protein modification, which is responsible for binding to kinases that regulate genes of the cell cycle, etc. (atm, chek2, cdk, mapk). In accordance with proteinpaint tool, the lrg_321t1: c.80c>t mutation is located in functionally specialized transactivation domains and codon of the tp53 gene, where the pathogenic mutation associated with li-Fraumeni syndrome has been earlier described. Conclusion. This report is the first to describe a new variant in the tp53 gene (rs1555526933), which is likely to be associated with hereditary cancer-predisposing syndrome, including li-Fraumeni syndrome, in a tuvinian Bc patient with young-onset and familial Bc.