A Clinical Overview of Telomerase-Associated Aberrancies in Follicular Thyroid Tumors as Diagnostic and Prognostic Markers: Tert Alert!

BACKGROUND AND AIMS

Endocrine surgeons and pathologists alike are well aware of the diagnostic predicament that follicular thyroid tumors impose in the clinical setting, best exemplified by the current inability to preoperatively assess the malignant potential of each individual lesion. As the proper recognition of a follicular thyroid carcinoma lies in the histopathological identification of invasive behavior, preoperative cytology alone is not yet sufficient to identify malignant tumors eligible for a total thyroidectomy upfront. Numerous auxiliary markers have been proposed as discriminating markers between follicular thyroid carcinomas and follicular thyroid adenomas, although many have proven suboptimal in terms of sensitivity, specificity, or overall clinical practicality. Of late, recurrent promoter mutations in the gene have been intimately coupled to subsets of well-differentiated thyroid cancer specimen with aggressive clinical characteristics as well as less differentiated forms of thyroid cancer with exceedingly poor prognosis. The mutations are thought to enhance the gene expressional output and cause immortalization through -associated mechanisms.

MATERIALS AND METHODS

In this review, the current value of promoter mutations is detailed from a clinical angle-as well as the possible future application of additional gene aberrations as adjunct markers for the proper recognition of malignant potential.

RESULTS

promoter mutations are found in subsets of follicular thyroid carcinomas and follicular tumors of uncertain malignant potential while exceedingly rare in recurrence-free follicular thyroid adenomas. Collectively, these aberrancies are suggested as possible diagnostic and prognostic discriminators of follicular thyroid tumors.

CONCLUSIONS

gene analyses greatly facilitate the clinical assessment of follicular thyroid tumors, and pinpoints cases at risk of future recurrences. High-volume, tertiary thyroid centers are therefore recommended to implement the mutational screening in clinical routine.