THE IMPACT OF GENE MUTATIONS IN THYROID CANCER: A REVIEW

Abstract

Introduction: Thyroid cancer is a common endocrine malignancy, with DICER1 mutations emerging as significant contributors to its development and progression. The identification of these mutations through molecular genetic analysis, particularly in poorly differentiated thyroid carcinomas and pediatric follicular thyroid carcinomas, has provided valuable insights into the pathophysiological mechanisms underlying the disease. Studies by Volante et al. and Lee et al. have highlighted the importance of genetic testing for DICER1 mutations in guiding clinical management, enabling more precise risk stratification, and tailoring patient-specific therapeutic approaches. Despite these advances, critical gaps remain in our understanding of the full spectrum of DICER1-associated phenotypes and the molecular mechanisms involved. Future research is needed to elucidate the biological pathways influenced by DICER1 mutations and to explore the potential for targeted therapies. Additionally, developing strategies for early detection and personalized treatment plans based on genetic profiles could significantly improve patient outcomes. This review aims to analyze publications devoted to the significant role of DICER1 mutations in thyroid cancer. Search strategy: The literature search was performed in the electronic databases PubMed, WoS, Scopus, Google Scholar over the past 10 years: from 2014 to 2024, but information about topic (the Impact of DICER1 Mutations on Thyroid Cancer) was not full. Most of the valuable information related to the problem, found in the databases, was from 2005–2007, 2009, and 2011–2013, and was included in the review. These sources do not fall into the specified depth, but were accepted for analysis because they contain conceptual information. Criteria for inclusion of publications in the review: publications in full text access in Russian and English, bearing statistically confirmed conclusions. Exclusion criteria: abstracts of reports, newspaper publications, paid access articles, personal communications. Results: This review synthesizes current insights into the mechanisms of formation of the DICER1 gene mutation. Despite these advances, there is no complete spectrum of DICER1-related phenotypes and molecular mechanisms involved in this process. Further research is needed to clarify the biological pathways affected by DICER1 mutations and explore the potential of targeted therapies. In addition, the development of early detection strategies and personalized treatment plans based on genetic profiles can significantly improve patient outcomes. This review highlights the need for continued research on DICER1 gene mutations to fully exploit their potential in improving the diagnosis, management, and treatment of thyroid cancer. Conclusions: The presented data allow us to formulate a clinical and pathophysiological approach to the clinic and treatment of thyroid cancer. Conducting genetic analysis for DICER1 gene mutations can lead to the development of personalized and effective treatment plans. The study of DICER1 mutations will improve patient outcomes by improving the approach to the diagnosis and treatment of thyroid cancer. Thus, the detection of the presence of a DICER1 gene mutation in thyroid cancer is an important part in the management of patients with thyroid cancer, which will also improve the outcome of the disease.