Abstract
The ThyroSPEC™ assay is a cost-efficient mutation detection panel that allows for the identification of the most prevalent 118 point mutations and 25 gene fusions associated with thyroid cancer. During an ongoing prospective evaluation of indeterminate liquid FNA cytologies with available histology in the Calgary/southern Alberta health-care region, we thus far identified 11 samples which were mutation-negative on ThyroSPEC™ but histologically malignant. The goal of this study was to further investigate reasons for and the mutation profile of these false-negatives to identify possibilities for improvements to the ThyroSPEC™ panel.
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