甲状腺结节中的分子细胞学现状:平台及其诊断和治疗效用
Zeina C Hannoush1, Roberto Ruiz-Cordero2, Mark Jara1
1Division of Endocrinology, Diabetes and Metabolism, Department of Internal Medicine, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
Journal of clinical medicine
|March 28, 2024
概括
分子测试有助于管理不确定的甲状腺结节,提供更好的诊断准确性. 这些测试指导临床决策,并可能导致针对特定遗传变化的个性化治疗.
科学领域:
- 内分泌学 在内分泌学.
- 分子诊断学 分子诊断
- 在瘤学瘤学.
背景情况:
- 甲状腺结节很常见,导致频繁的细针吸收 (FNA).
- 大约20%的FNA产生不确定的结果,使患者管理复杂化.
- 分子测试已经成为澄清不确定的甲状腺FNA结果的宝贵工具.
研究的目的:
- 审查和比较美国三大领先的商业分子细胞学平台:Afirma GSC,Thyroseq GC和ThyGeNEXT + ThyraMIR.
- 评估这些分子测试的诊断性能,包括预测值和准确性.
- 讨论甲状腺结节分子测试的挑战和未来方向.
主要方法:
- 对 Afirma GSC,Thyroseq GC 和 ThyGeNEXT + ThyraMIR 平台进行比较的审查.
- 对测试性能指标 (灵敏度,特异性,预测值) 的连续改进进行分析.
- 检查比较诊断准确性和临床实用性的研究.
主要成果:
- 阿菲尔玛GSC和Thyroseq GC显示了诊断性能的连续改善.
- 对比研究表明,Afirma GSC和Thyroseq GC的诊断性能相似,成本和处理时间有所不同.
- Thyroseq GC提供了详细的基因组数据和管理指南; ThyGeNEXT + ThyraMIR显示出有前途的结果,特别是在miRNA分析方面.
结论:
- 分子测试显著有助于诊断和管理不确定的甲状腺结节.
- 虽然解释和成本效益方面的挑战仍然存在,但这些平台提供了有价值的见解.
- 进展指向治疗应用,FDA批准的选择针对定制治疗的特定遗传改变.
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