基于甲状腺结节中细针吸附冲洗样本的分子分析
Sevgül Fakı1, Cevdet Aydın2, Şefika Burçak Polat2
1Department of Endocrinology and Metabolism, Ankara Bilkent City Hospital, Ankara 06800, Türkiye.
Genes
|January 28, 2026
概括
从新鲜细针吸附 (FNA) 冲洗样本中对BRAF和RAS突变进行双基因测试,对于不确定的甲状腺结节是可行的. 这种方法对恶性瘤具有很高的特异性,有助于术前决策.
科学领域:
- 内分泌学 在内分泌学.
- 分子诊断学 分子诊断学
- 手术病理学手术病理学
背景情况:
- 分子测试精细化了不确定的甲状腺结节 (Bethesda III-IV) 的风险分层.
- 有限的数据存在于双基因 (BRAF和RAS) 测试使用新鲜的细针吸收 (FNA) 冲洗标本.
研究的目的:
- 为了评估从新鲜的甲状腺FNA洗材料中BRAF和RAS突变分析的性能.
- 专注于不确定的甲状腺细胞学,以提高诊断准确度.
主要方法:
- 对1139名患者进行了基于洗的分子测试的回顾性分析.
- 评估样本的充分性,突变谱和诊断指标 (灵敏度,特异性,PPV,NPV,准确性).
- 在贝塞斯达III-IV子集和在边缘病变的不同分类假设下进行分析.
主要成果:
- 在90.9%的样本中获得了足够的分子分析材料.
- 在经过手术的患者中 (n=307),31.9%的患者存在恶性病变.
- 对于不确定的结节,双基因测试显示灵敏度为48.0%,特异性为89.6%,准确度为72.9%,当边缘病变被归类为良性时.
结论:
- 从新鲜的FNA洗中进行双基因 (BRAF和RAS) 测试在技术上是可行的,样本充分性高 (≥90%).
- 这种方法提供了高特异性和适度的敏感性恶性瘤在不确定的甲状腺结节.
- 它作为细胞学和成像学的实用,低复杂度的辅助,用于手术前的决策,特别是在没有全面面板的情况下.
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