RRML - The role of genetic testing in the prognosis and management of solid tumors. A literature review

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Nr. 31(3)/2023 DOI:10.2478/rrlm-2023-0018


The role of genetic testing in the prognosis and management of solid tumors. A literature review

Viorica-Elena Radoi, Lucian-Gheorghe Pop, Ovidiu-Virgil I. Maioru, Delia Sabau, Andra Dan, Maria Riza, Laurentiu-Camil Bohiltea

Correspondence should be addressed to: Lucian-Gheorghe Pop


Introduction: Cancer is the leading cause of death and an important impediment to increasing life expectancy in every country of the world. During the process of oncogenesis, genetic and epigenetic changes lead to abnormal expression of genes associated with cellular pathways that coordinate extremely important functions such as cell multiplication, cell differentiation, cell death, and cell cycle. Methods: There are over 200 approved biomarker-driven drugs for various types of cancer. Valuable biomarkers are analyzed to establish their importance in specific therapies. Precision medicine for oncological patients has been recognized as a valuable approach to solid tumors. Results: Various genes and their mutations either have a direct pathogenic effect or can give hints to a certain prognosis regarding the oncological pathology. A comprehensive genetic test for a broad molecular profile and complete characterization of tumor genetic heterogenicity should contain genes that are aligned with professional practice, guidelines and clinical trials, full coding region coverage for each gene and targeting of unique emerging and actionable markers. It is useful to use such a comprehensive test when a broad genomic profile identifies treatment options including immunotherapies and targeted drugs for patient enrollment or when relapse or disease progression has occurred after prior therapies. Conclusions: For patients with solid tumors, personalized medicine has been recognized as a successful strategy treatment, but it is not sufficient to seize cancer growth and progression up to a single molecular alteration due to specific hallmarks such as tumor heterogeneity, clonal evolution, and independent resistance mechanisms. Earlier studies have evaluated the effectiveness of using multigene panel screening methods for personalized cancer therapy, with controversial results. Future research in the field of circulating tumor DNA analysis might be the key to overcoming some of these limitations. The liquid biopsy could enable dynamic molecular profiling of all patients diagnosed with solid tumors enhancing accuracy, prognosis, and management

Keywords: literature review, oncogenetics, personalized therapies, molecular marker, cancer classification

Received: 10.3.2023
Accepted: 21.6.2023
Published: 3.7.2023

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How to cite
Radoi VE, Pop LG, Maioru OVI, Sabau D, Dan A, Riza M, et al. The role of genetic testing in the prognosis and management of solid tumors. A literature review. Rev Romana Med Lab. 2023;31(3):163-74. DOI:10.2478/rrlm-2023-0018