Background: Gene fusions are known in many cancers as driver or passenger mutations. They play an important role in both the etiology and pathogenesis of cancer and are considered as potential diagnostic and prognostic markers and possible therapeutic targets. The spectrum and prevalence of gene fusions in thyroid cancer ranges from single cases up to 80%, depending on the specific type of cancer. During last three years, massive parallel sequencing technologies have revealed new fusions and allowed detailed characteristics of fusions in different types of thyroid cancer.
Summary: This article reviews all known fusions and their prevalence in papillary, poorly differentiated and anaplastic, follicular, and medullary carcinomas. The mechanisms of fusion formation are described. In addition, the mechanisms of oncogenic transformation, such as altered gene expression, forced oligomerization, and subcellular localization, are given.
Conclusion: The prognostic value and perspectives of the utilization of gene fusions as therapeutic targets are discussed.
Keywords: RET/PTC; anaplastic thyroid carcinoma; follicular thyroid carcinoma; medullary carcinoma; papillary thyroid carcinoma; rearrangements.