Molecular approaches to thyroid cancer diagnosis

Thyroid nodules are common, and the accurate diagnosis of cancer or benign disease is important for the effective clinical management of patients. Molecular markers are a helpful diagnostic tool, particularly for cytologically indeterminate thyroid nodules. In the past few years, significant progress has been made in developing molecular markers for clinical use in fine-needle aspiration specimens, including gene mutation panels and gene expression classifiers. With the availability of next generation sequencing technology, gene mutation panels can be expanded to interrogate multiple genes simultaneously and to provide yet more accurate diagnostic information. In addition, recently several new molecular markers of thyroid cancer have been identified that offer diagnostic, prognostic, and therapeutic information that might be of value in guiding individualized management of patients with thyroid nodules.