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Otorinolaringologia 2013 June;63(2):39-52


language: English

Molecular diagnosis of thyroid tumors

Liu Y. 1, Marti A. 1, Umbricht C. 1-3

1 Department of Surgery, Johns Hopkins Medical Institutions, Baltimore, MA, USA; 2 Department of Oncology, Johns Hopkins Medical Institutions, Baltimore, MA, USA; 3 Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MA, USA


Thyroid nodules are very common and may be detected in up to half of the population. The vast majority of thyroid tumors are benign, and usually indolent even in the event of a malignant diagnosis. The wide range of molecular approaches that have been developed or are under development is a testament to the critical and heretofore unmet need to complement the standard cytopathological fine needle aspiration assessment of thyroid nodules, particularly nodules with intermediate cytology, which have, depending on case selection, a risk of malignancy between 20% and 30%. Currently available molecular assays can be broadly viewed as falling into two classes. One class, exemplified by mutations such as BRAF, RET/PTC, and PAX8/PPARγ, (but not RAS mutations) have a very high specificity and positive predictive value, but insufficient sensitivity on their own. While molecular tests for these specific mutations and translocations may be useful to “rule in” cancer, the opposite is true of classifiers based on gene expression panels. These reach the high levels of sensitivity and negative predictive value necessary for “ruling out” cancer safely, allowing the identification of patients that are good candidates for conservative management. Unfortunately, at the present time, no one test has the necessary sensitivity and specificity to warrant its routine use on its own – this may change as more data becomes available, or if additional molecular markers can be incorporated without rendering the test cost-prohibitive. Finally, there is an urgent need for a reappraisal of how to treat thyroid cancers, given the indolent nature of the majority of these tumors, with more attention on identifying tumors that do or do not have the potential of life-threatening behavior.

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