TERT, HRAS, and EIF1AX mutations in a patient with follicular adenoma.

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TERT, HRAS, and EIF1AX mutations in a patient with follicular adenoma.

Thyroid. 2018 Apr 19;:

Authors: Topf MC, Wang ZX, Tuluc M, Pribitkin EA

Abstract
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: We report a rare case of TERT, HRAS, and EIF1AX mutations in a patient with follicular adenoma. TERT promoter mutations may be an early genetic event in the molecular pathogenesis of follicular thyroid carcinoma.

PMID: 29669480 [PubMed - as supplied by publisher]

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