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Expert Rev Mol Diagn. 2008 Jan;8(1):83-95.

Molecular genetics of thyroid cancer: implications for diagnosis, treatment and prognosis.

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Department of Pathology, University of Pittsburgh, 3550 Terrace Street, Pittsburgh, PA 15261, USA.


Thyroid cancer is the most common malignant tumor of the endocrine system and accounts for approximately 1% of all newly diagnosed cancer cases. The most frequent type of thyroid malignancy is papillary carcinoma, which constitutes approximately 80% of all cases. Papillary carcinomas frequently have genetic alterations leading to the activation of the MAPK signal pathway. Those include RET/PTC rearrangement and point mutations of the BRAF and RAS genes. Mutations in these genes are found in over 70% of papillary carcinomas and they rarely overlap in the same tumor. Frequent genetic alterations in follicular carcinomas, the second most common type of thyroid malignancy, include RAS mutations and PAX8-PPAR gamma rearrangement. RET point mutations are crucial for the development of medullary thyroid carcinomas. Many of these mutations, particularly those leading to the activation of the MAPK pathway, are being actively explored as therapeutic targets for thyroid cancer. Detection of these genetic alterations using molecular techniques is important for preoperative fine-needle aspiration diagnosis, prognosis and treatment of thyroid cancer.

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