The value of molecular testing of thyroid aspirates

Abstract

In the evaluation of thyroid nodules, cytopathology of thyroid fine-needle aspiration specimens plays a central role. Established classification schemes should be used. In the case of indeterminate cytology, additional molecular tests may be used. However, the stratification of indeterminate thyroid nodules into malignant and benign lesions based on molecular tests alone, apart from costly commercial assays from US vendors, has so far been clearly limited. Molecular testing of single genetic alterations that can confirm malignancy in papillary, poorly differentiated, and anaplastic thyroid carcinomas is helpful and relatively easy to perform. However, negative test results by no means exclude malignant neoplasia. Predictive markers for single entities (BRAF V600E, RET mutations and RET fusions) should be tested in all advanced thyroid carcinomas.