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Histology-based and cytology-based needle sampling for targeted next-generation sequencing in the indeterminate thyroid tumors

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Abstract

Purpose

To establish the optimal and minimally invasive diagnostic approach for targeted next-generation sequencing (NGS) in the indeterminate thyroid tumors.

Methods

The patients with indeterminate thyroid tumors were prospectively recruited and analyzed in a single tertiary medical center. We performed FNA and core needle biopsy (CNB) at the surgical specimens to confirm the quality of each sampling procedure. Cytological diagnosis by FNA, histological diagnosis by CNB and confirmed diagnosis by final surgery were compared to demonstrate the agreement among these approaches for the indeterminate thyroid tumors. The quality of the samples from FNA and CNB was evaluated, respectively to determine the optimal approach for targeted NGS. Finally, we performed ultrasound-guided CNB and FNA (US-CNB and US-FNA) on one case to confirm the clinical feasibility of being a pre-operative minimally invasive diagnostic approach.

Results

A total of 6 female patients (average age: 50.83 ± 15.18 years) with indeterminate thyroid tumors (average size: 1.79 ± 0.91 cm) were recruited for further analyses. The pathological diagnoses could be obtained by CNB in the first five cases, and the sample quality of CNB for targeted NGS was better than that of FNA, even after 10X dilution. The gene mutations associated with thyroid malignancy could be detected by NGS. In the case treated with US-CNB, the pathological and targeted NGS results were successfully obtained, which suggested the possibility of thyroid malignancy to facilitate immediate decision of subsequent treatment.

Conclusion

CNB could serve as a minimally invasive diagnostic approach in the indeterminate thyroid tumors by providing pathological diagnoses and qualified samples for detection of mutated genes, which facilitates appropriate and immediate management.

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Availability of data and materials

The data that support the findings of this study are not publicly available due to privacy and ethical restrictions, but are available from the corresponding author on reasonable request.

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Acknowledgements

The authors thank the National Science and Technology Council, the National Taiwan University Hospital, and the staff of the Eighth Core Lab, Department of Medical Research, the National Taiwan University for their support.

Funding

The authors did not receive support from any organization for the submitted work.

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Authors and Affiliations

  1. Department of Otolaryngology, National Taiwan University Hospital and National Taiwan University College of Medicine, #1, Sec. 1 Jen-Ai Road, Taipei, 100, Taiwan

    Chun-Nan Chen & Tsung-Lin Yang

  2. Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, Taipei, Taiwan

    Tsung-Lin Yang

  3. Research Center for Developmental Biology and Regenerative Medicine, National Taiwan University, Taipei, Taiwan

    Tsung-Lin Yang

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  1. Chun-Nan Chen
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Contributions

All authors contributed to the study conception and design. Material preparation, data collection and analysis were performed by C-N Chen and T-L Yang. The first draft of the manuscript was written by C-N Chen and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

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Correspondence to Tsung-Lin Yang.

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Conflict of interest

The authors have no relevant financial or non-financial interests to disclose.

Ethical approval

This study was approved by the Research Ethics Committee A in a tertiary medical center (201512203RINA). Written consent had been obtained from each patient after full explanation of the purpose and nature of all procedures used.

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Chen, CN., Yang, TL. Histology-based and cytology-based needle sampling for targeted next-generation sequencing in the indeterminate thyroid tumors. Eur Arch Otorhinolaryngol 280, 3773–3781 (2023). https://doi.org/10.1007/s00405-023-07947-5

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