Clinical utility of EZH1 mutations in the diagnosis of follicular-patterned thyroid tumors

Follicular-patterned tumors of the thyroid gland are characterized by a predominantly follicular growth pattern. They frequently harbor RAS mutations, not BRAF mutations. Technological advances in molecular testing have discovered novel RAS-type mutations. However, clinical significance of these mutations remains unknown. We investigated the prevalence and clinical impact of mutations of BRAF, NRAS, HRAS, KRAS, EZH1, EIF1AX, and TERT genes by Sanger sequencing in a series of 201 follicular-patterned thyroid tumors including follicular adenoma (n=40), Hürthle cell adenoma (n=54), noninvasive follicular thyroid neoplasms with papillary-like nuclear features (n=50), follicular thyroid carcinoma (n=40), Hürthle cell carcinoma (n=10), and poorly differentiated thyroid carcinoma arising in a well differentiated follicular neoplasm (n=7), and 120 classic papillary carcinoma.

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