Topf, Michael. C.1; Epps, Gregory A.1; Wang, Zi-Xuan2; Tuluc, Madalina2; McCullen, Mary Kate3; Pribitkin, Edmund A.1
1Department of Otolaryngology—Head and Neck Surgery, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania
2Department of Pathology, Anatomy, & Cell Biology, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania
3Department of Endocrinology, Thomas Jefferson University, 211 S 9th Street, Philadelphia, Pennsylvania
Background/Purpose: Molecular markers are increasingly being 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.
Objectives: To review a case of follicular adenoma in a patient found to have mutations in the TERT, HRAS, and EIF1AX genes and discuss the prevalence of these molecular markers in benign thyroid lesions.
Methods: Retrospective chart review and literature review
Results: A 68-year-old woman with hypothyroidism presented with a right thyroid nodule palpated on routine examination. Ultrasound revealed a 2.4 x 2.4 cm nodule within the right thyroid lobe without suspicious features, which was atypia of undetermined significance on cytology. The tumor was examined with next-generation sequencing and found to be positive for the following: a c.-124C>T mutation in the TERT gene, a c.182A>G mutation in the HRAS gene, and a c.338-8_338-1delGTCCTTAG deletion in the EIF1AX gene. Given the mutations found on next-generation sequencing the patient underwent right thyroid lobectomy, however final pathology was consistent with follicular adenoma.
Discussion & Conclusion: Traditionally, the presence of a TERT promoter mutation definitively diagnoses a thyroid nodule not only as cancer, but also identifies a cancer with aggressive potential. We report a rare case of a TERT promoter mutation in a patient with a benign thyroid nodule on final pathology. Further research and understanding is necessary to determine the significance of molecular markers in the management of thyroid nodules to avoid overtreatment of patients with benign nodules.