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Updated: Aug 6, 2026
A Swin Transformer-Based Model for Thyroid Nodule Detection in Ultrasound Images
Published on: April 21, 2023
Application Value of Multi-Gene Testing in the Evaluation of Benign and Malignant Thyroid Nodules
Murui Zhang1, Lei Xie2, Fei Xu1
1Department of Pathology, Sir Run Run Shaw Hospital of Zhejiang University College of Medicine, Hangzhou 310016, China.
Background:
Thyroid nodules are highly prevalent in clinical practice, and accurate preoperative distinction between benign and malignant lesions remains a major diagnostic challenge.
Objective:
This study aims to explore the variation of multi-gene detection in benign and malignant thyroid nodules and the application value of combining the 2023 Bethesda System for Reporting Thyroid Cytopathology (BSRTC) in evaluating the benign and malignant nature of thyroid nodules.
Materials And Methods:
A total of 593 patients with thyroid nodules (total 697 nodules) underwent ultrasound-guided fine-needle aspiration biopsy were collected from Sir Run Run Shaw Hospital, Zhejiang University School of Medicine. All of them were subjected to cytological examination and multi-gene testing, 247 had histopathological results. The next-generation sequencing platform was applied for multi-gene testing. A panel of well-recognized commonly mutated genes in thyroid cancer were analyzed, including BRAF, HRAS, KRAS, NRAS, TP53, TERT, RET, NTRK1, NTRK3, PAX8, THADA.
Results:
Gene mutations were identified in 226 nodules (226/247; 91.5%), with BRAF being the most prevalent driver gene alteration observed in this cohort (193/226; 85.4%), followed by RAS (26/226, 11.5%). The overall malignancy rate of gene mutations was 97.3% in our cohort, of which the lymph node metastasis rate was 43.8%. The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of the combined application of multi-gene testing and cytology were 99.5%, 92.9%, 99.5%, 92.9%, and 93.1%, respectively. The sensitivity and negative predictive value of the combined application were higher than those of cytology, the differences were statistically significant (P<0.05).
Conclusions:
Multi-gene testing could substantially enhance the detection rate of malignant thyroid nodules and protect patients with benign nodules from unnecessary surgeries. The combined application of multi-gene testing and cytology can achieve more precise diagnosis and risk stratification of thyroid nodules. It provides a valuable reference for individualized preoperative decision-making, which may serve as a crucial method for postoperative treatment and prognosis assessment.
