Risk assessment of cytologically indeterminate thyroid nodules with integrated molecular testing and repeat biopsy: a surgical decision-oriented tool

Abstract

Background The preoperative diagnosis of cytologically indeterminate thyroid nodules (ITNs) is very challenging. In this study, we aim to provide an integrated risk assessment for thyroid nodules with indeterminate cytology to guide surgical decision-making, which includes results of blood tests, molecular tests, and repeat fine-needle aspiration biopsy (FNAB). Methods The study retrospectively included 265 ITNs between June 2019 and April 2022. According to our integrated risk assessment process that starts with blood testing, followed by supplementary DNA mutation detection on the first FNAB, and finally repeat FNAB, we divided the ITNs into high-risk and low-risk groups. Performance was evaluated with sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), area under the receiver operating characteristic curve (AUC), and the consistency between the risk evaluation and histological results. Results Of the 265 ITNs, 87 were included in the risk assessment process. The risk assessment had a sensitivity of 84.1%, specificity of 83.3%, PPV of 95.1%, NPV of 57.7%, and AUC of 0.837. The nodules with consistent results between the risk groups and histological outcomes, which included malignant cases in the high-risk group and benign cases in the low-risk group, accounted for 83.9% of all risk-assessed nodules. Conclusions These data suggest that the integrated risk assessment might provide proper information for surgical decision-making in patients with ITNs.

Imprinted gene detection effectively improves the diagnostic accuracy for papillary thyroid carcinoma

“…In addition, a variety of biomarkers have been used clinically, such as RAS mutation, RET/PTC rearrangement, and PAX8-PPARγ rearrangement [ 47 ]. Considerable progress has been made in the continuous development of molecular testing platforms, including Afirma Genomic Sequencing Classifier (GSC) and ThyroSeq v3, which are currently the two main thyroid molecular classifiers with proven clinical efficacy, but both have some limitations, such as low specificity, low positive predictive value, or high price [ 48 ].…”