Onkológia S2/2023

Testing molecular biomarkers in the treatment and management of patients with lung cancer in Slovakia

Lung carcinoma has the highest mortality rate among all cancers worldwide. In recent years, the identification of molecular biomarkers led to the emergence of personalized targeted therapies, enabling new diagnostic and therapeutic possibilities. Various gene alterations have been identified in patients with lung carcinoma, predominantly in genes like EGFR, ALK, ROS1, BRAF, NTRK1/2/3, RET, MET, ERBB2/HER2, KRAS, NRG1, FGFR, alongside changes in PD-L1 expression, and a comprehensive marker reflecting the quantity of gene alterations known as Tumor Mutation Burden (TMB). Thanks to advancements in sequencing and bioinformatic technologies, it is now possible to simultaneously analyze somatic variants in dozens to thousands of genes within tumor tissue. This enables the customization of therapy for each patient based on their Comprehensive Genomic Profile (CGP). Beyond external factors, inherited genetic alterations also represent significant risk factors for lung cancer development. The prevalence of germline mutations in lung carcinoma patients is 5.8%, with the highest number of mutations observed in genes MUTYH, ATM, and BRCA2. Mutations in a broad spectrum of other genes, such as EGFR, TP53, CHEK2, and others, were identified at a lower frequency. In Slovakia, the testing of molecular biomarkers has become a standard diagnostic procedure in selected specialized centers aligning with international recommendations.

Keywords: lung carcinoma, CGP, personalized medicine