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TERT, HRAS, and EIF1AX Mutations in a Patient with Follicular Adenoma
Michael C Topf1, Zi-Xuan Wang2, Madalina Tuluc2
11 Department of Otolaryngology-Head and Neck Surgery, Thomas Jefferson University , Philadelphia, Pennsylvania.
Background:
Molecular markers are increasingly used as diagnostic tools in the management of thyroid nodules. There is a paucity of studies evaluating the prevalence of molecular markers in benign lesions.
Patient Findings:
A 68-year-old woman with hypothyroidism presented with a right thyroid nodule, which was atypia of undetermined significance on cytology. The fine-needle aspirate of the nodule was examined with next-generation sequencing and found to harbor a C228T mutation in the TERT gene, a Q61R mutation in the HRAS gene, and an A113_splice mutation in the EIF1AX gene. Right thyroid lobectomy was performed, with final pathology showing follicular adenoma. All three mutations detected in the original fine-needle aspirate specimen were detected in the final surgical specimen as well.
Conclusions:
A rare case of TERT, HRAS, and EIF1AX mutations is reported in a patient with follicular adenoma. TERT promoter mutations may be an early genetic event in the molecular pathogenesis of follicular thyroid carcinoma.
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