Перспективы молекулярного профилирования при стратификации и лечении рака мочевого пузыря

Prospects for molecular profiling in bladder cancer stratification and treatment. A review

Modern trends in oncological care are based on the principles of precision medicine, which necessitates the identification of prognostic and predictive molecular genetic markers. The results of genomic profiling of bladder cancer (BC) represent a wide range of genes involved in carcinogenesis, but the functional significance and clinical potential of most of them have not been sufficiently studied. The aim of this study was to summarize modern scientific and practical data on the trends in precision medicine in the field of oncourology in BC. The materials for the study were domestic and foreign scientific databases, in particular the National Library of Medicine (http://www.ncbi.nlm.nih.gov/) using the electronic resource PubMed (https://pubmed.ncbi.nlm.nih.gov/), eLIBRARY.RU (https://www.elibrary.ru/) and Google Scholar (https://scholar.google.ru/schhp?hl=ru), when searching by keywords: BC, urothelial carcinoma, NGS, molecular profiling, genes, FGFR3, TERT, PIK3CA, TP53, mutations, expression. An analytical review concerning clinical, pathomorphological and molecular genetic data on the problems of diagnosis and treatment of BC included reports on preclinical experimental and clinical studies, meta-analyses, systematic reviews, cohort randomized studies for the period 2002–2025. A number of studies have demonstrated the association of molecular genetic changes in genes encoding receptor and intracellular kinases (FGFR2/3, PIK3CA etc.) with early stages of BC carcinogenesis, provided that the multifactorial prognostic significance is variable, taking into account the availability of modern molecular-targeted drugs. In particular, a pan-FGFR inhibitor, erdafitinib, which has demonstrated its effectiveness, is currently approved for the treatment of common forms of BC. Taking into account the pathogenetic mechanisms, an important further prospect for the use of receptor and intracellular kinase inhibitors in BC is the development and introduction into clinical practice of highly selective systemic and locally delivered forms with the possibility of their use in clinically heterogeneous groups of patients, including those with early stages of the disease. In turn, alterations in genes responsible for DNA repair (TP53, etc.) are associated with an aggressive course of the disease and a corresponding less favorable prognosis. In this direction, the key point of application of personalized therapy is the development and use of agents capable of modulating the activity of proteins of the reparation system at various stages of carcinogenesis. Thus, the mutational and functional status of genes involved in key oncogenic and reparation pathways in BC plays an important role in the context of developing a prognostic model, and also serves as a predictive target for therapeutic intervention. © LLC "KONSILIUM MEDICUM", 2025