Genetic Landscape of Solid Malignant Tumors in a Russian Cohort of Patients
<b>Background/Objectives</b>: Comprehensive genomic profiling (CGP) is a cornerstone of personalized oncology. However, large-scale, systematic data on the somatic mutation spectrum in Russian cancer patients are scarce. This study aimed to characterize the genomic landscape and assess the potential for matched therapy in a Russian cohort of patients with solid tumors. <b>Methods</b>: This retrospective study included 204 patients with various solid tumors. CGP was performed using the FoundationOne<sup>®</sup>CDx (FFPE tissue) and FoundationOne<sup>®</sup>Liquid CDx (cfDNA) platforms. The analysis assessed single-nucleotide variants, indels, copy number alterations, gene fusions, tumor mutational burden (TMB), microsatellite instability (MSI), and PD-L1 expression. <b>Results</b>: The most frequently mutated genes were <i>TP53</i> (61.5%) and <i>KRAS</i>. The median TMB was 4.0 mut/Mb and was significantly lower in stage IV tumors. Significant co-occurrence was observed between <i>KRAS</i> and <i>TP53</i> mutations, as well as between <i>APC</i> and <i>KRAS</i> mutations, which were particularly characteristic of colorectal cancer. <i>KRAS</i> mutations were associated with higher combined positive score (CPS) values in cases with lung cancer. Based on the CGP results, 44% of patients had findings that supported the use of an approved matched targeted therapy or immunotherapy for their tumor type. An additional 36% of patients had alterations indicating potential benefit from off-label targeted therapy. <b>Conclusions</b>: This study reveals the distinct genomic characteristics of solid tumors in a Russian cohort and confirms the high clinical utility of CGP for identifying actionable targets. Implementing CGP early in the diagnostic process is a necessary step towards realizing personalized treatment strategies for cancer patients.
Authors
- Iurii K. Slepov (ORCID: https://orcid.org/0000-0003-3498-4573)
- Evgeniy D. Kopylov (ORCID: https://orcid.org/0009-0008-9927-5608)
- D. N. Khmelkova (ORCID: https://orcid.org/0000-0002-4673-1031)
- А. А. Исаев (ORCID: https://orcid.org/0000-0001-5848-5117)
- Roman V. Deev (ORCID: https://orcid.org/0000-0001-8389-3841)
- Vladimir Kaimonov (ORCID: https://orcid.org/0000-0001-9024-0785)
- Anton A. Turchin (ORCID: https://orcid.org/0009-0008-5302-5769)
Institutions
- Research Centre for Medical Genetics (RU)
- Russian Scientific Center of Surgery (RU)
Publication Details
- Journal
- Diagnostics
- Published
- 2025-12-19
- DOI
- https://doi.org/10.3390/diagnostics16010001
- Primary Topic
- Cancer Genomics and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00