Molecular genetic studies in the diagnosis of differentiated thyroid cancer: literature review

• Main Authors: O.P. Nechay, D.M. Kvitka, P.O. Lishchynsky, O.V. Mazur, V.O. Palamarchuk
• Format: Article
• Language: English
• Published: Publishing House Zaslavsky 2020-05-01
• Series: Mìžnarodnij Endokrinologìčnij Žurnal
• Subjects: differentiated thyroid cancer; diagnosis; molecular genetic studies; review
• Online Access: http://iej.zaslavsky.com.ua/article/view/208490

The preoperative diagnosis of differentiated thyroid cancer (DTC) remains an urgent problem. During cytological evaluation of thyroid nodes, it is impossible to distinguish clearly benign and malignant pathology in 5–20 % of cases, which is especially relevant for Bethesda III and IV. Due to fear of missing the cancer, diagnostic hemi-/thyroidectomy with lymph node dissection are still being carried out in 50–70 % of cases. The operation carries certain financial costs and a potential risk to the patient. In order to optimize the diagnosis of DTC, methods of molecular genetic analysis have been used in clinical practice during recent years. This method allows identifying patients at increased risk of cancer formation and predicting the nature and activity of the process. If necessary, it determines the volume of surgical intervention — from hemithyroidectomy in case of microcarcinoma with a favorable prognosis to, otherwise, thyroidectomy with lymphadenectomy. Understanding the processes of oncogenesis of thyroid tumors using molecular genetic testing allows the doctor to reasonably provide information to the patient about the possible DTC, its form, aggressiveness, possible hereditary nature, and reduce the number (up to 69 %) of diagnostic surgical interventions with a dubious result of cytology. Given the large amount of accumulated information regarding the types of mutations of thyroid nodules and its continued rapid growth, in the near future we should expect mathematical computer modeling of the stratification of the risk of revealing DTC, its aggressiveness and further personalized therapy of the patient.