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在细胞学样本上对甲状腺结节的分子分析:来自意大利多机构队列的发现

Vincenzo Fiorentino^1,2, Walter Giordano², Cristina Pizzimenti³

¹Anatomic Pathology Unit, Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", University of Messina, Messina, Italy.

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|December 10, 2025

概括

下一代测序 (NGS) 面板准确评估甲状腺结节,具有高负预测值,可能避免不必要的手术. 检测特定突变与恶性瘤相关,有助于甲状腺癌的手术规划.

科学领域:

内分泌学在内分泌学.
在瘤学瘤学.
分子诊断学分子诊断

背景情况:

分子测试对于甲状腺结节的手术前风险分层至关重要,特别是那些具有不确定的细胞学.
精细针吸收 (FNA) 细胞学是甲状腺结节的主要诊断工具.
下一代测序 (NGS) 提供了先进的分子分析能力.

研究的目的:

为了评估甲状腺结节评估的Myriapod NGS DNA-only癌症小组的性能.
为了将分子发现与术后组织病理学诊断相关联.
评估NGS在改善手术前风险分层方面的有用性.

主要方法:

在TIR3A-TIR5类别中对74个甲状腺结节进行了回顾性分析.
从剩余的基于液体的细胞学材料中提取DNA,用于NGS分析.
使用Myriapod面板对16个与甲状腺癌相关的基因进行有针对性的测序.
分子结果与术后组织病理学的相关性.

主要成果:

在89.2%的结节中获得了足够的DNA用于分子测试.
突变仅在恶性结节中被检测出来.
美丽足小组显示了高的诊断准确性:100%的灵敏度,95.5%的特异性 (充分的样本).
在恶性结节 (TIR4和TIR5) 中,BRAF V600E是常见的突变.

结论:

甲状腺结的手术前评估中,Myriapod NGS面板是有效的.
高负预测值可以帮助防止不必要的手术.
检测特定突变有助于确认恶性瘤,并为手术规划提供信息.

关键词:

精细针吸收细胞学细针吸收细胞学分子测试试验分子测试这是下一代测序.甲状腺结节甲状腺结节

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