基于NGS的多基因测试的价值,用于区分良性与恶性以及甲状腺结节的风险分层
Mingjian Fei1, Dongdong Ding2, Xuanyi Ouyang3
1Department of Pathology, The Second Affiliated Hospital of Jiaxing University, Jiaxing, China.
Frontiers in oncology
|November 27, 2024
概括
下一代测序 (NGS) 与细胞学相结合,改善了甲状腺结节的诊断. 这种多基因小组测试有助于准确地分层甲状腺结节风险,区分良性和恶性病例.
科学领域:
- 分子诊断学 分子诊断学
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
背景情况:
- 精细针吸收 (FNA) 活检是甲状腺结节评估的标准.
- 不确定的细胞学结果发生在20-30%的甲状腺结节中.
- 准确的风险分层对于患者管理至关重要.
研究的目的:
- 评估基于下一代测序 (NGS) 的多基因小组测试的实用性.
- 为了改善甲状腺结节的风险分层.
- 为了区分良性和恶性甲状腺结节.
主要方法:
- 在359个FNA样本上进行NGS多基因小组测试.
- 检测单核酸变体 (SNV),小插入/删除 (InDels) 和融合事件.
- 对113个手术切除的结节的组织病理相关性.
主要成果:
- 与细胞学结合的NGS使诊断灵敏度从0.7245增加到0.898 (AUC为0.8303对比0.7622).
- 特定突变 (例如,BRAF V600E,TERT促进体,RAS,RET融合) 与恶性瘤相关.
- 负面或不确定的意义结果与较低的恶性瘤风险有关.
结论:
- NGS多基因面板测试提高了甲状腺结节的诊断准确度.
- 鉴定出基因变异有助于将结节分为高风险,中等风险和低风险组.
- 结合细胞病理学,NGS为甲状腺结节风险分层提供了有价值的工具.
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