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<p>This study aimed to evaluate the diagnostic utility of next-generation sequencing (NGS) for identifying genetic alterations in fine-needle aspiration (FNA) samples from thyroid nodules, with a specific focus on its clinical implications for surgical management. In total, 631 patients underwent FNA cytology, yielding 683 cytological samples. Of these, 264 patients with indeterminate or suspicious cytological results underwent surgical intervention, and their samples were subjected to molecular analysis targeting single-nucleotide variants (SNVs) and insertion/deletion (InDel) mutations in a 20-gene panel associated with thyroid carcinoma. Genetic alterations were identified in 160 (57.55%) nodules, while 118 (42.45%) exhibited no detectable mutations. Co-occurrence of multiple genetic mutations was noted in 39 nodules (14.03%). When noninvasive follicular thyroid neoplasms with papillary-like nuclear features (NIFTP) and tumors with uncertain malignant potential were considered malignant, the NGS test demonstrated a sensitivity of 66.67% (95% CI: 49.69%–80.41%) and specificity of 72.34% (95% CI: 57.13%–83.91%) specifically for nodules with indeterminate cytology (Bethesda categories III and IV). The BRAF V600E mutation was the most frequently observed genetic alteration in papillary thyroid carcinoma (PTC). The classic subtype of papillary thyroid carcinoma (PTC) was the most prevalent, followed by the infiltrative follicular variant and the tall cell subtype. The tall cell subtype showed strong associations with key molecular alterations, including BRAF V600E, TERT promoter, and TP53 mutations. These findings highlight the potential of NGS-based molecular profiling to enhance diagnostic accuracy, inform risk stratification, and guide personalized surgical approaches in thyroid nodule management.</p>

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Utilities of next-generation sequencing in the surgical management of thyroid nodules in China

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月5日

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  • Kaige Lin,
  • Xuan Xin,
  • Jinge Liu,
  • Fuyun Shi,
  • Luming Zheng,
  • Qingqing He,
  • Yunhan Ma

摘要

This study aimed to evaluate the diagnostic utility of next-generation sequencing (NGS) for identifying genetic alterations in fine-needle aspiration (FNA) samples from thyroid nodules, with a specific focus on its clinical implications for surgical management. In total, 631 patients underwent FNA cytology, yielding 683 cytological samples. Of these, 264 patients with indeterminate or suspicious cytological results underwent surgical intervention, and their samples were subjected to molecular analysis targeting single-nucleotide variants (SNVs) and insertion/deletion (InDel) mutations in a 20-gene panel associated with thyroid carcinoma. Genetic alterations were identified in 160 (57.55%) nodules, while 118 (42.45%) exhibited no detectable mutations. Co-occurrence of multiple genetic mutations was noted in 39 nodules (14.03%). When noninvasive follicular thyroid neoplasms with papillary-like nuclear features (NIFTP) and tumors with uncertain malignant potential were considered malignant, the NGS test demonstrated a sensitivity of 66.67% (95% CI: 49.69%–80.41%) and specificity of 72.34% (95% CI: 57.13%–83.91%) specifically for nodules with indeterminate cytology (Bethesda categories III and IV). The BRAF V600E mutation was the most frequently observed genetic alteration in papillary thyroid carcinoma (PTC). The classic subtype of papillary thyroid carcinoma (PTC) was the most prevalent, followed by the infiltrative follicular variant and the tall cell subtype. The tall cell subtype showed strong associations with key molecular alterations, including BRAF V600E, TERT promoter, and TP53 mutations. These findings highlight the potential of NGS-based molecular profiling to enhance diagnostic accuracy, inform risk stratification, and guide personalized surgical approaches in thyroid nodule management.