Panel Testing of BRAF Mutation, RAS Mutation, and RET/PTC Rearrangements or RET Mutation Using Fine-Needle Aspiration Specimens in Evaluation of Thyroid Carcinoma.

Abstract

Objective: Thyroid carcinoma (TC) is a common malignancy of the endocrine system. This research investigates the value of multiple gene detection in evaluating the pathological features of TC.

Methods: This retrospective study includes samples from 213 participants who underwent fine-needle aspiration, among whom 176 were diagnosed as TC and 37 with benign lesions. All patients underwent polygenic (BRAF, RAS, and RET) mutation detection. The surgical and pathological results were used as the gold standard to analyze the correlation between different gene mutations.

Results: The diagnostic accuracy and sensitivity of multigene panel testing were remarkably superior to those of BRAF, RAS, and RET alone, whereas the omission diagnosis rate was lower than that of BRAF, RAS, and RET alone. The diagnostic area under the curve of BRAF, RAS, RET, and combined detection for TC was 0.8871, 0.5468, 0.5717, and 0.9396, respectively; RAS and RET gene mutation was closely related to the lymph node metastasis of the enrolled patients (p < 0.05). Mutation status for both single-gene testing and multigene panel testing closely correlated with the histological subtype of the patients.

Conclusion: While BRAF mutations are associated with papillary TC, RAS mutations are more common in follicular TC, and RET mutations are common in medullary TC. Combined detection of RAS and RET gene mutations in TC has a certain correlation with the disease's pathological characteristics, which provides new ideas and measures for the subsequent diagnosis and evaluation of TC.