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Molecular testing for thyroid nodules: Where are we now?

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Abstract

Approximately 25% of the fine needle aspiration samples (FNAB) of thyroid nodules are classified as “indeterminate samples”, that means, Bethesda III and IV categories. Until the last decade, most of these cases underwent diagnostic surgery, although only a minority (13–34%) confirmed malignancy postoperatively. In view of this, with the objective of improving the preoperative diagnosis in these cases, the molecular tests emerged, which are validated from the diagnostic point of view, presenting good performance, with good diagnostic accuracy, being able to avoid diagnostic surgeries. With the advancement of knowledge of the role of each of the mutations and gene rearrangements in thyroid oncogenesis, molecular markers have left to play only a diagnostic role and have been gaining more and more space both in defining the prognostic role of the tumor, as well as in the indication of target therapy. Thus, the objective of this review is to show how to use the tool of molecular tests, now commercially available in the world, in the management of indeterminate cytological nodules, assessing the pre-test malignancy risk of the nodule, through clinical, ultrasonographic and cytological characteristics, and decide on the benefit of molecular testing for each patient. In addition, to discuss its new and promising prognostic and therapeutic role in thyroid cancer.

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  1. Thyroid Diseases Unit - Division of Endocrinology, Department of Medicine, Faculty of Medical Sciences of Santa Casa of Sao Paulo, Av. Angélica, 2491 cj 104 - CEP: 01232-011, São Paulo, SP, Brazil

    Carolina Ferraz

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Ferraz, C. Molecular testing for thyroid nodules: Where are we now?. Rev Endocr Metab Disord 25, 149–159 (2024). https://doi.org/10.1007/s11154-023-09842-0

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