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

Institutions

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
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Genetic Landscape of Solid Malignant Tumors in a Russian Cohort of Patients

Iurii K. Slepov, Evgeniy D. Kopylov, D. N. Khmelkova, А. А. Исаев et al.
Diagnostics
Cancer Genomics and Diagnostics
article

Genetic Landscape of Solid Malignant Tumors in a Russian Cohort of Patients

Iurii K. Slepov, Evgeniy D. Kopylov, D. N. Khmelkova, А. А. Исаев, Roman V. Deev, Vladimir Kaimonov, Anton A. Turchin
article en

Abstract

<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.

DiagnosticsVol. 16(1)
Research Centre for Medical Genetics (RU), Russian Scientific Center of Surgery (RU)
Openalex Percentile: Top 50%
Cancer Genomics and Diagnostics
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.