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ABSTRACT
Introduction: The gold standard for the presurgical diagnosis of thyroid cancer is fine needle aspiration cytology. In about 30% of cases a final diagnosis is not obtained and surgical treatment is required for diagnostic/therapeutic purposes. To avoid unnecessary thyroidectomies, methods based on molecular markers analysis have been explored over the last 10 years.
Areas covered: The present review introduces the limits of the cytological diagnosis of thyroid nodules and describes the molecular techniques for the presurgical diagnosis of these nodules focusing on the use of the Thyroseq-V2 (Rule in) and Afirma (Rule out) tests.
Expert commentary: These two types of tests have been clinically applied and validated; however they are still confined to specialized laboratories, either academic or private, and not yet routinely used. The evidence of a positive cost-benefit analysis should encourage to set up molecular pathology laboratories to apply new molecular testing(s). In the meantime, clinical judgment, which must take into consideration several parameters including the age of the patient, the size and number of the nodule(s), the ultrasound pattern and the risk level for malignancy, should guide the decision to operate or to follow up the evolution of the nodule.
Declaration of interest
The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.