Role of NGS-based ThyroSeq Panel in Cancer Diagnosis in Thyroid Nodules

Recently, targeted next generation sequencing (NGS) platforms have been introduced that allow inexpensive testing for hundreds of mutational hotspots at the same time. A number of additional mutational markers in thyroid cancer have been identified. Highly promising markers associated with tumor prognosis have also been found. This multi-institutional study aims to validate the diagnostic use of mutational markers in thyroid nodules with indeterminate cytology. The proposed hypothesis is that a broad NGS-based genotyping of thyroid nodules using a large panel of mutational markers applied to thyroid FNA samples can provide an accurate cancer risk stratification in thyroid nodules. The performance of the panel will be tested in a multi-institutional double-blind prospective study of FNA samples from thyroid nodules with indeterminate cytology and available surgical outcome