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Published on: February 9, 2024
Molecular diagnosis for indeterminate thyroid nodules on fine needle aspiration: advances and limitations
Xavier M Keutgen1, Filippo Filicori, Thomas J Fahey
1Department of Surgery, Division of Endocrine Surgery, New York Presbyterian Hospital - Weill Cornell Medical Center, New York, NY 10021, USA. xmk9001@nyp.org
Abstract:
Indeterminate thyroid lesions are diagnosed in up to 30% of fine needle aspirations. These nodules harbor malignancy in more than 25% of cases, and hemithyroidectomy or total thyroidectomy has therefore been advocated in order to achieve definitive diagnosis. Recently, many molecular markers have been investigated in an attempt to increase diagnostic accuracy of indeterminate fine needle aspiration cytology and thereby avoid unnecessary complications and costs associated with thyroid surgery. Somatic mutation testing, mRNA gene expression platforms, protein immunocytochemistry and miRNA panels have improved the diagnostic accuracy of indeterminate thyroid nodules, and although no test is perfectly accurate, in the authors' opinion, these methods will most certainly become an important part of the diagnostic tools for clinicians and cytopathologists in the future.