Molecular Diagnostics and Personalized Therapeutics in Thyroid Cancer

Thyroid malignant tumors are genetically and phenotypically diverse disorders with significant differences in clinical presentation, histological structure, and prognosis. These are well-differentiated cancers, such as papillary thyroid carcinoma (PTC) and follicular thyroid carcinoma (FTC), as well as more aggressive types like poorly differentiated and anaplastic thyroid carcinoma. The goal of this narrative national framework is to focus on full coverage of the molecular features of thyroid tumors, including comprehensive morbidities related to reliable molecular approaches that clarify the origin, diagnosis and treatment of these tumors. Genetic changes linked to various types of thyroid tumors, particularly thyroid cancer, have been identified through studies. TERT promoter mutations appear to be associated with aggressive subtypes of PTC, BRAF mutations and particularly BRAF V۶۰۰E have been shown to influence treatment outcome, specifically prognosis. More common findings include RAS mutations and PAX۸-PPAR gamma rearrangements, which are found in follicular thyroid carcinoma and influence tumor growth and prognosis. Anaplastic thyroid cancer, one of the most aggressive types of cancer, is associated with a high mutational burden, including mutations in the TP۵۳, BRAF and TERT promoters the majority of which are associated with conventional therapies resistance. Beyond from genetic mutations, molecular biomarkers such as microRNAs, circulating tumor DNA (ctDNA), and protein signatures have emerged as valuable tools for the non-invasive diagnosis and monitoring of thyroid cancer. The differential expression of specific microRNAs has been linked to tumor aggressiveness and therapeutic resistance, indicating potential targets for new treatment strategies. Furthermore, comprehensive genomic and epigenomic profiling has revealed changes in several pathways, including those involved in cell proliferation, apoptosis, and immune evasion, providing clues for potential therapeutic targets. Personalized treatment approaches, guided by molecular diagnostics, have become critical for treating thyroid cancer. It consists of identifying patients who may benefit from targeted therapies, such as tyrosine kinase inhibitors, as well as those who should receive less aggressive treatment or active surveillance. As our understanding of molecular alterations in thyroid cancers advances, incorporating these findings into clinical practice holds promise for more accurate prognosis and tailored therapeutic interventions, ultimately improving patient outcomes. This review, which focuses on both well-differentiated and aggressive forms of thyroid cancer, emphasizes the importance of molecular diagnostics in improving the precision of thyroid cancer management and the potential for developing novel therapeutic strategies based on the molecular characteristics of individual tumors.

کلیدواژه ها:

Thyroid Cancer ، Molecular Diagnostics ، Genetic Mutations ، Biomarkers ، Personalized Treatment