Cancer of the thyroid gland is associated with genetic aberrations including point mutations in BRAF, RET, and any of the RAS subtypes and chromosomal translocations involving known breakpoints in RET/PTC and PAX8/PPARγ. While the relationships between these molecular abnormalities and tumor carcinogenesis have been well characterized, their relationship to prognosis and usefulness in clinical care is less clear. In this chapter, we discuss the molecular aberrations, how they are detected, how they correlate with cytomorphological and histomorphological findings, and how useful the constellation of this information may be in current patient management. We also compare and contrast the currently available molecular testing strategies-the gene expression classifier and the somatic mutation panel-for stratifying risk in cytomorphologically indeterminate nodules biopsied by fine needle aspiration.
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