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Real-life utility of five-gene panel test in preoperative thyroid fine-needle aspiration biopsy: a large cohort of 740 patients study

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Abstract

Purpose

Fine-needle aspiration (FNA) biopsy is an effective method to discriminate malignant thyroid nodules but reaches indeterminate results in approximately 30% of cases. Molecular testing can improve the diagnostic accuracy of FNA. This study aimed to investigate the real-life utility of the five-gene panel testing in thyroid FNAs.

Methods

759 thyroid nodules from 740 patients under FNAs were retrospectively enrolled. Gene mutation information and clinical parameters, including age, gender, tumor size, and lymph node metastasis, were respectively recorded. Cytological results were classified based on The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC). We analyzed mutational hotspots in BRAF, KRAS, NRAS, HRAS, and TERT genes from FNA specimens. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy were calculated to assess diagnostic performance.

Results

We identified 549 five-gene mutations in 759 nodules (72.3%), and the mutation frequency increased from the lower TBSRTC category to the upper category. BRAF.p.V600E showed the highest mutation incidence (71.3%) in the five-gene panel, correlated with the small to medium diameter (p = 0.008, p = 0.012) and high cytological categories (p < 0.001). The sensitivity, specificity, PPV, NPV, and accuracy of the combination of FNA cytology and five-gene detection were 96.83%, 100%, 100%, 42.86%, and 96.90%, respectively.

Conclusions

The mutation frequency of the five-gene panel is 72.3% in thyroid FNAs. BRAF.p.V600E has the highest alteration rate, which is closely associated with tumor size and cytological results. The five-gene panel can improve the sensitivity and accuracy of FNA cytology, which may represent a valid adjunct technique in distinguishing thyroid nodules.

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Acknowledgements

This study was supported by the National Natural Science Foundation of China (No. 81971627).

Author contributions

Concept and design: B.Z., J.T. Collection, analysis, and interpretation of data: L.W., H.L., S.H. Statistical analysis: J.T., J.M., X.X. Drafting of the manuscript: J.T. Approval of the version to be published: B.Z.

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Authors and Affiliations

  1. Department of Ultrasound, China-Japan Friendship Hospital, Beijing, 100029, China

    Jiajia Tang, Jiaojiao Ma, Xuehua Xi, Liangkai Wang & Huilin Li

  2. Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China

    Jiajia Tang, Huilin Li & Bo Zhang

  3. Institute of Clinical Medical Sciences, China-Japan Friendship Hospital, Beijing, 100029, China

    Liangkai Wang

  4. Beijing University of Chinese Medicine, Beijing, 100029, China

    Shirui Huo

  5. Department of Ultrasound, China-Japan Friendship Hospital, National Center for Respiratory Medicine, National Clinical Research Center for Respiratory Diseases, Institute of Respiratory Medicine of Chinese Academy of Medical Sciences, Beijing, 100029, China

    Bo Zhang

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Correspondence to Bo Zhang.

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Approval was obtained from the ethics committee of the China–Japan Friendship Hospital. The procedures used in this study adhere to the tenets of the Declaration of Helsinki.

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Tang, J., Ma, J., Xi, X. et al. Real-life utility of five-gene panel test in preoperative thyroid fine-needle aspiration biopsy: a large cohort of 740 patients study. Endocrine 80, 552–562 (2023). https://doi.org/10.1007/s12020-022-03286-3

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