Vol 30, No 1 (2025)

BACKGROUND: Cervical cancer is a significant medical and social issue that greatly impacts women’s quality of life and life expectancy. The primary pathogenic factor is a persistent infection with a high-risk human papillomavirus (HPV) types.

AIM: The study aimed to evaluate the prevalence and spectrum of HPV infections in the female population of the Republic of Bashkortostan, as well as to determine their molecular and genetic predisposition to cervical cancer.

METHODS: The study included 219 randomly selected HPV-positive samples to evaluate the prevalence and spectrum of HPV types. Four years later, a follow-up screening was conducted in 70 HPV-positive women. The screening included an evaluation of their HPV and cervical statuses, an examination by an obstetrician/gynecologist, cytology, colposcopy, and biopsy for histology when indicated. In the third stage, we compared polymorphisms of the CLPTM1L (rs27069), PAX8 (rs10175462), and CDC42 (rs2268177) genes in patients with histologically confirmed cervical cancer and in apparently healthy women.

RESULTS: No positive correlation was found between the number of HPV types per sample and viral load, nor between viral load and HPV clearance. Genome-wide association studies (GWAS) identified statistically significant associations between cervical cancer risk and the G allele of CLPTM1L rs27069 (χ² = 4.098; p = 0.043), as well as with the T allele (χ² = 16.99; p = 3.751e-5) and the TT genotype (χ² = 17.35; p = 0.0002) of CDC42 rs2268177. No association was found for PAX8 (rs10175462).

CONCLUSION: This was the first Russian study to replicate GWAS results for cervical cancer. Associations were identified for CLPTM1L (rs27069) and CDC42 (rs2268177), but not for PAX8 (rs10175462). The results highlight the need for further research to confirm these associations and improve our understanding of the molecular mechanisms associated with cervical cancer risk and HPV persistence.

BACKGROUND: Malignant skin tumors occupy the second place among all oncological diseases worldwide. The most aggressive among them is skin melanoma, and of particular interest is its subspecies — pigmentless melanoma, which occurs from 2 to 8% among all skin malignancies. The atypical dermatoscopic picture, the frequent detection of pigmented melanoma in advanced stages, and its aggressive course, which worsens long-term treatment results, require a closer study of the issue and improvement of methods for early detection of the disease.

AIM: Analysis of clinical cases of pigmented skin melanoma with assessment of pathognomonic clinical and dermatoscopic picture.

METHODS: A retrospective analysis of the data of patients with pigmentless melanoma of the skin provided from the cancer registry of the Tyumen region for 2018-2023 was performed.

RESULTS: During the study, it was revealed that at the initial request for medical help, most of the patients were not bothered by the existing pigmentation-free formation, and complaints of rapid growth of the lesion and contact bleeding were less common. When assessing the localization of tumors, it was found that pigmented melanoma was most common on the skin of the trunk (in 38.4%), less often on the skin of the head and neck (26.9%) and only in isolated cases on the skin of the upper and lower extremities. The primary lesion more often had the appearance of a node or papule, less often — spots or plaques. When assessing the dermatoscopic picture, vascular polymorphism became the most common feature (43.18%), regression zones were slightly less common. In exceptional cases, it was impossible to assess the dermatoscopic picture due to tumor disintegration.

CONCLUSION: The rare occurrence of pigmented skin melanoma in clinical practice, the atypical dermatoscopic picture of the primary focus and the asymptomatic course are predictors of late diagnosis of the disease, which exacerbates the further course of the oncological process and long-term treatment results. This indicates to us the need to increase cancer awareness regarding pigmented melanoma of the skin, and the study and identification of typical clinical and dermatoscopic signs is an essential step towards early diagnosis of the malignant pathology in question and timely treatment of patients.

Neuroendocrine tumors (NETs) of the gastrointestinal tract and lungs are rare yet clinically significant neoplasms characterized by heterogeneous progression and diverse manifestations. This article systematizes current management strategies based on the latest recommendations and scientific advances. Epidemiological trends are a key focus, including an increase in NET incidence rates over the past few decades (6.4 times in the USA from 1973 to 2012) and the predominance of gastroenteropancreatic NETs (62–70%) and bronchopulmonary NETs (25%). The following key clinical aspects are highlighted, including hormonally active conditions (carcinoid syndrome, gastrinomas, insulinomas) and their complications (carcinoid heart disease and crises). Current approaches to diagnose, treatment, and monitoring of NETs are discussed using recent guidelines and scientific data. Molecular genetic testing is emphasized because of its ability to improve risk stratification and personalize treatment. The following treatment options are discussed: surgery (resection, liver transplantation); pharmacotherapy (somatostatin analogues, telotristat, and targeted therapies such as sunitinib and everolimus); chemotherapy; peptide receptor radionuclide therapy. The key study outcomes are presented. The article also addresses challenges in early diagnosis and the need for a multidisciplinary approach and personalized treatment. Promising areas of using novel biomarkers and imaging techniques are mentioned, and the importance of follow-up is emphasized, including follow-up intervals and watch and wait strategies for small tumors. The article discusses the challenges of early diagnosis and the importance of thorough tumor evaluations and explores prospects for further research to optimize treatment strategies.

BACKGROUND: Treatment of HER2/neu-positive breast cancer poses significant challenges. Approximately 50% of patients do not achieve near-complete tumor regression with standard neoadjuvant antitumor therapy. New approaches are needed to minimize the adverse effects of targeted therapies and maintain their effectiveness. One solution is cytokine-based gene therapy, which uses a combination of interferon gamma and a recombinant tumor necrosis factor (TNF)/thymosin α1 hybrid.

CASE DESCRIPTION: A female patient with histologically confirmed non-luminal, HER2/neu-positive breast cancer (cT2N3M0, stage III; estrogen receptor: 0, progesterone receptor: 0, HER2/neu 3+, Ki67 70%) received two treatment cycles of paclitaxel, trastuzumab, and pertuzumab and presented due to poor treatment tolerance. Cytokine-based genetic therapy (interferon gamma + recombinant TNF/thymosin α1) was added to the standard treatment regimen. The quality of life improved after two cycles of combined treatment. Complete tumor regression in the breast, as well as in the axillary and supraclavicular lymph nodes, was confirmed after eight treatment cycles through mammography, computed tomography, and a histopathological examination of the resected breast tissue. The treatment resulted in an increase in TNFα levels and Karnofsky Performance Scale Index. The patient is still receiving maintenance circles of cytokine-based gene therapy.

CONCLUSION: The addition of cytokine-based genetic therapy to the neoadjuvant regimen improved patients’ quality of life, increased the effectiveness of antitumor treatment, and resulted in complete tumor regression.

Founded in 1975, the Department of Oncology and Clinical Morphology at the Bashkir State Medical University has been actively engaged in educational, research, and clinical activities for 50 years. The primary focus involves training highly qualified specialists and implementing the latest advances for diagnosing, treating, and preventing cancer. Our department has guided the defense of more than 150 candidate theses and 20 doctoral theses, published over 2000 papers, and obtained over 100 patents, including international ones. Our educational materials are used by medical schools in Russia and around the world. The total print run of publications exceeds several thousand copies. Basic research and scientific exchange are supported through collaboration with leading global research and educational centers. Advanced clinical centers effectively integrate scientific advances into healthcare services by implementing innovative technologies. Three priorities include improved diagnostics, personalized treatment, and cancer prevention. Key areas of research include biological profiling of tumors, primary cancer prevention (cancer without tumors), improved diagnosis, and greater access to personalized therapies. The goal is to apply scientific advances to real-world practice and train specialists to address current challenges in cancer treatment.