Lekárska genetika a diagnostika 1/2025
Current possibilities of genetic testing of endocrine neoplasias
Genetic diagnostics in clinical oncology brings great changes in diagnosis, prediction and consequently in cancer treatment and therapy as well. Since approximately one third of endocrine malignancies are of hereditary origin, genetic testing for genes associated with hereditary cancer syndromes should be considered for every newly diagnosed endocrine tumor. On the other hand, at the somatic level, the analysis of specific molecular markers allows a more accurate diagnosis of malignancies which is important in design of targeted therapies. Concerning the diagnosis of thyroid malignancies, molecular diagnosis of thyroid nodules with undetermined cytology results is recommended in order to estimate the malignant potential of the nodule. On the other hand analysis focused on identification of somatic mutations in the tumor tissue allows to personalize the therapy, especially in the case of thyroid carcinomas. Predictive testing targeting BRAF, RET, NTRK, ALK genes as well as analysis of microsatellite instability and tumour mutational burden are recommended. The aim is to improve the care of patients with endocrine malignancies by providing individualized treatment and personalizing medicine.
Keywords: endocrine tumors, hereditary syndromes, genetic testing, molecular markers, personalized medicine
