Indeterminate Thyroid Nodules: From Cytology to Molecular Testing

Paola Vignali; Elisabetta Macerola; Anello Marcello Poma; Rebecca Sparavelli; Fulvio Basolo

doi:10.3390/diagnostics13183008

Indeterminate Thyroid Nodules: From Cytology to Molecular Testing

Diagnostics (Basel). 2023 Sep 20;13(18):3008. doi: 10.3390/diagnostics13183008.

Authors

Paola Vignali¹, Elisabetta Macerola¹, Anello Marcello Poma¹, Rebecca Sparavelli¹, Fulvio Basolo¹

Affiliation

¹ Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Via Savi 10, 56126 Pisa, Italy.

Abstract

Thyroid cancer is the most common malignancy of the endocrine system. Fine-needle aspiration (FNA) biopsy of thyroid nodules has become the gold standard procedure, in terms of cost and efficacy, for guiding clinicians towards appropriate patients' management. One challenge for cytopathologists is to accurately classify cytological specimens as benign or malignant based on cytomorphological features. In fact, with a frequency ranging from 10% to 30%, nodules are diagnosed as indeterminate. In recent years, the mutational landscape of thyroid tumors has been extensively described, and two molecular profiles have been identified: RAS-like (NRAS, HRAS, and KRAS mutations; EIF1AX mutations; BRAF K601E mutation; and PPARG and THADA fusions) and BRAF^V600E-like (including BRAF^V600E mutation and RET and BRAF fusions). The purpose of this review is to discuss the latest molecular findings in the context of indeterminate thyroid nodules, highlighting the role of molecular tests in patients' management.

Keywords: BRAF-like; RAS-like; fine-needle aspiration (FNA); molecular tests; thyroid cytology.

Publication types

Review

Grants and funding

This research received no external funding.