Comprehensive tumor molecular profle analysis in clinical practice

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Background: Tumor molecular profle analysis by Next Generation Sequencing technology is currently widely applied in clinical practice and has enabled the detection of predictive biomarkers of response to targeted treatment. In parallel with targeted therapies, immunotherapies are also evolving, revolutionizing cancer therapy, with Pro? grammed Death-ligand 1 (PD-L1), Microsatellite instability (MSI), and Tumor Mutational Burden (TMB) analysis being the biomarkers employed most commonly. Methods: In the present study, tumor molecular profle analysis was performed using a 161 gene NGS panel, containing the majority of clinically signifcant genes for cancer treatment selection. A variety of tumor types have been analyzed, including aggressive and hard to treat cancers such as pancreatic cancer. Besides, the clinical utility of immunotherapy biomarkers (TMB, MSI, PD-L1), was also studied. Results: Molecular profle analysis was conducted in 610 cancer patients, while in 393 of them a at least one bio? marker for immunotherapy response was requested. An actionable alteration was detected in 77.87% of the patients. 54.75% of them received information related to on-label or of-label treatment (Tiers 1A.1, 1A.2, 2B, and 2C.1) and 21.31% received a variant that could be used for clinical trial inclusion. The addition to immunotherapy biomarker to targeted biomarkers’ analysis in 191 cases increased the number of patients with an on-label treatment recommenda? tion by 22.92%, while an option for on-label or of-label treatment was provided in 71.35% of the cases. Conclusions: Tumor molecular profle analysis using NGS is a frst-tier method for a variety of tumor types and provides important information for decision making in the treatment of cancer patients. Importantly, simultaneous analysis for targeted therapy and immunotherapy biomarkers could lead to better tumor characterization and ofer actionable information in the majority of patients. Furthermore, our data suggest that one in two patients may be eli? gible for on-label ICI treatment based on biomarker analysis. However, appropriate interpretation of results from such analysis is essential for implementation in clinical practice and accurate refnement of treatment strategy.


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Molecular Profle, Next Generation Sequencing, Targeted Treatment, Immunotherapy, Tumor Mutation Burden, PD-L1, Microsatellite Instability


BMC Medical Genomics

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Özdoğan, M., Papadopoulou, E., Tsoulos, N., Tsantikidi, A., Mariatou, V. M., Tsaousis, G., Kapeni, E., Bourkoula, E., Fotiou, D., Kapetsis, G., Boukovinas, I., Touroutoglou, N., Fassas, A., Adamidis, A., Kosmidis, P., Trafalis, D., Galani, E., Lypas, G., Orhan, B., Tansan, S., … Nasioulas, G. (2021). Comprehensive tumor molecular profile analysis in clinical practice. BMC medical genomics, 14(1), 105.