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Globally, the diffuse goiter affects more than 10% of the population and in some regions is endemic. Thyroid nodules are found in approximately 5% of the population using the oldest method for thyroid examination – palpation. When performing ultrasound screening, this percentage increases significantly and reaches between 20 and 75% of the total population. Thyroid carcinoma is a rare malignancy and accounts for up to 1% of all malignant tumors. It is the most common endocrine cancer and is clinically manifested as a thyroid nodule. Somatic mutations play an important role in its development. Differentiation of benign and malignant thyroid nodules is of great importance due to the different therapeutic approach. Therefore, new diagnostic tools are sought to help distinguish the two. Despite the progress in our knowledge of carcinogenesis in recent years, a number of key issues still remain unanswered. The establishment of new rare somatic mutations can improve pre-surgical diagnosis and optimize post-operative strategies for the treatment of thyroid carcinoma. Next-generation sequencing (NGS) allows for extensive mutation and genome rearrangements tracking. The results obtained with NGS provide the basis for the development of new approach for systematic genetic screening, at prevention, early diagnosis, accurate prognosis, and targeted therapy of this disorder.

Somatic Genomic Changes in the Formation of Differentiated Thyroid Carcinoma