Genetics of thyroid nodules and thyroid carcinoma

Thyroid nodules are heterogeneous tumors with variable genetic signatures. Thyroid cancers are monoclonal lesions with a defined histomorphology that largely depends on the underlying somatic mutation. While the mutation rate is generally low in differentiated thyroid cancers, poorly differentiated and anaplastic thyroid cancers show a high mutation load. The identification of somatic mutations in fine needle aspirates can be helpful for the differential diagnostics of thyroid nodules; however, a prognostic contribution is less certain. The molecular pathology of thyroid tumors is helpful for the development of targeted therapies and may infer novel immuno-oncological concepts for advanced aggressive thyroid cancers.