Genetic landscape of nodular goiter, thyroid nodules with intermediate features between nodular goiter and follicular adenoma
crossref(2024)
Abstract
Abstract Background Nodular goiters (NG) and follicular adenoma (FA) are common thyroid benign nodules and thyroid nodules with intermediate features between nodular goiter and follicular (ING) is used to describe the disease with borderline features. The genetic landscape of these three diseases is poorly investigated comparatively. Methods Clinical information of NG, ING and FA was retrieved and reviewed. Cytology and histology of the pathologic archives were reviewed to confirm the diagnosis. DNA and RNA were extracted to be submitted to qPCR assay to detect BRAF, TERT, RET, RAS, PAX8 and NTRK genetic aberration. Results The demographic, clinical, image and cytologic features in NG and ING are similar. Most disease presents a benign clinical and cytologic behavior, causing no diagnostic difficulty. Low frequency (< 10%) RAS gene was found in NG and ING. Patients with FA are older than whom with NG or ING. FA lesion size is smaller than ones in NG or ING. Although sonography demonstrated most FA nodules as benign category, the cytologic evaluation demonstrated a considerable percentage (45%) of atypia disease. Additionally, much higher frequency of RAS gene abnormality has been found in FA. And PAX8-PPARG gene is found in 17.9% FA and in no NG/ING cases. Conclusion NG/ING and FA is in the same spectrum and represents two ends of the spectrum of thyroid benign nodular condition. Differentiation of ING from NG has little clinical significance and would not be recommended. FA is devoid from NG/ING clinically and genetically. Interpretation of genetic abnormality should be cautious.
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