Clinical utility of EZH1 mutations in the diagnosis of follicular-patterned thyroid tumors
Human Pathology May 04, 2018
Jung CK, et al. - This study analyzed the prevalence and clinical impact of mutations of BRAF, NRAS, HRAS, KRAS, EZH1, EIF1AX, and TERT genes by Sanger sequencing in follicular-patterned thyroid tumors including follicular adenoma, Hurthle cell adenoma, noninvasive follicular thyroid neoplasms with papillary-like nuclear features, follicular thyroid carcinoma, Hurthle cell carcinoma, and poorly differentiated thyroid carcinoma arising in a well-differentiated follicular neoplasm and classic papillary carcinoma. The presence of RAS mutations and BRAF K601E mutation was affirmed in benign, borderline, and malignant follicular-patterned tumors. Findings did not reveal BRAF V600E in all follicular-patterned tumors. The occurrence of TERT promoter mutations in high-risk thyroid cancers was illustrated. It was also noted that these genetic markers could be used for the diagnostic purpose and risk stratification of thyroid nodules.
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