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关于不确定的甲状腺结节的ThyroSeq概述:一个机构经验

Sam Sirotnikov¹, Christopher C Griffith², Daniel Lubin¹

¹Department of Pathology, Emory University, Atlanta, Georgia, USA.

Diagnostic cytopathology

|March 30, 2024

概括

ThyroSeq v3 准确地评估了在不确定的甲状腺结节中恶性瘤的风险. 这种分子测试有助于指导手术决策,改善了对甲状腺癌患者的治疗.

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学

背景情况:

不确定的甲状腺结节需要准确的风险分层来指导管理.
分子测试在评估恶性瘤 (ROM) 风险方面提供了更高的准确性.
ThyroSeq v3 是一种用于甲状腺结节评估的分子测试.

研究的目的:

为了评估ThyroSeq v3在不确定的甲状腺结节中的性能.
根据 ThyroSeq v3.3 检测到的基因变异来评估恶性瘤 (ROM) 的风险.
为了将分子发现与外科诊断相关联.

主要方法:

使用ThyroSeq v3.3对276个未确定的甲状腺细针吸入样本进行分析.
基因变异与手术结果和诊断的相关性.
对癌症和具有乳头状状特征的非侵入性卵泡性甲状腺瘤 (NIFTP) 的外科诊断的审查.

主要成果:

42%的测试结节有可检测的遗传改变.
中级到高风险突变与77.5%的ROM (包括NIFTP) 相关.
类似RAS的突变显示了73.4%的ROM,而BRAFV600E/高风险突变的ROM为100%.

结论:

ThyroSeq v3有效地在不确定的甲状腺结节中分层ROM.
通过ThyroSeq v3指导手术管理决策的基因变化.
该测试显示出有希望的预测准确性,PPV为78.2%,NPV为75.9%.

关键词:

甲状腺Seqq 甲状腺不确定的甲状腺结节.突变是一种突变.恶性瘤的风险.手术诊断是指手术诊断的方法.

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