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下一代基于序列的针对性体质突变分析在甲状腺结节中,病理诊断为不确定的细胞学
Gizem Kök1, Deniz Nart2, Yeşim Ertan2
1Department of Medical Genetics, Van Educational and Research Hospital, Van, Turkey; Medical Genetics Diagnostic Lab, Department of Medical Genetics, Ege University School of Medicine, İzmir, Turkey.
Pathology, research and practice
|September 1, 2024
概括
身体突变分析有助于管理不确定的甲状腺结节. 分子造型精确识别恶性瘤,可能避免不必要的重复细针吸收 (FNA) 程序.
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:
- 不确定的甲状腺结节带来诊断挑战,需要方法来区分良性和恶性病例.
- 身体突变分析提供了一种分子方法来表征甲状腺瘤并指导临床决策.
研究的目的:
- 评估体质突变分析在未确定的甲状腺结节的临床管理中的实用性.
- 评估分子分析的准确性,以区分恶性和良性甲状腺结节.
主要方法:
- 来自20个不确定的甲状腺结节的吸取样本经历了下一代测序 (NGS) 进行67个基因的分子分析.
- 结果与外科病理相关联,黄金标准,并计算了诊断性能指标 (灵敏度,特异性,PPV,NPV).
主要成果:
- 在50%的样本中检测到关键基因 (NRAS,BRAF,TP53,TERT,PTEN,PIK3CA) 的体变异.
- 分子分析实现了60%的灵敏度,80%的特异性,90%的正预测值和40%的负预测值.
- 在15个恶性结节中,有9个是Tier 1或Tier 2的变体,而一个良性结节则是Tier 2的变体.
结论:
- 实体突变分析证明了治疗未确定性甲状腺结节的临床实用性,可能在不重复细针吸收 (FNA) 的情况下指导治疗.
- 这项研究强调了在选择基于DNA或RNA的基因测试方法时考虑患者年龄的重要性.
- 身体突变档案提供了有价值的见解,可以影响目前的甲状腺结节病理学分类.
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