Preoperative Molecular Markers in Thyroid Nodules.

Preoperative Molecular Markers in Thyroid Nodules.
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DOI:
10.3389/fendo.2018.00179
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发表时间:
2018
影响因子:
5.2
通讯作者:
Zeiger MA
Zeiger MA
中科院分区:
医学2区
文献类型:
--
作者:
Sahli ZT;Smith PW;Umbricht CB;Zeiger MA

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区分良性和恶性甲状腺结节的需要导致了对区分分子标记的追求。在临床应用中最常见的分子检测是Afirma®基因表达分类器(GEC)和Thyroseq®V2。尽管分子标记领域发展迅速,但也存在一些局限性。这些挑战包括最近引入的组织病理学诊断“具有乳头状样核特征的非侵袭性滤泡性甲状腺肿瘤”,良性和恶性病理诊断中基因突变的相关性,缺乏对分子标记阴性结节的随访,以及分子标记的成本效益。在这篇文章中,我们回顾了目前发表的关于Afirma®GEC和Thyroseq®V2诊断价值的文献。在Afirma®GEC研究中,敏感性(Se)、特异性(Sp)、阳性预测值(PPV)和阴性预测值(NPV)分别为75% ~ 100%、5% ~ 53%、13% ~ 100%和20% ~ 100%。在Thyroseq®V2研究中,Se、Sp、PPV和NPV分别为40 ~ 100%、56 ~ 93%、13 ~ 90%和48 ~ 97%。我们还讨论了Afirma®GEC和Thyroseq®V2实用性和临床应用的当前挑战,并展望了这些快速发展的技术的未来方向。
The need for distinguishing benign from malignant thyroid nodules has led to the pursuit of differentiating molecular markers. The most common molecular tests in clinical use are Afirma® Gene Expression Classifier (GEC) and Thyroseq® V2. Despite the rapidly developing field of molecular markers, several limitations exist. These challenges include the recent introduction of the histopathological diagnosis “Non-Invasive Follicular Thyroid neoplasm with Papillary-like nuclear features”, the correlation of genetic mutations within both benign and malignant pathologic diagnoses, the lack of follow-up of molecular marker negative nodules, and the cost-effectiveness of molecular markers. In this manuscript, we review the current published literature surrounding the diagnostic value of Afirma® GEC and Thyroseq® V2. Among Afirma® GEC studies, sensitivity (Se), specificity (Sp), positive predictive value (PPV), and negative predictive value (NPV) ranged from 75 to 100%, 5 to 53%, 13 to 100%, and 20 to 100%, respectively. Among Thyroseq® V2 studies, Se, Sp, PPV, and NPV ranged from 40 to 100%, 56 to 93%, 13 to 90%, and 48 to 97%, respectively. We also discuss current challenges to Afirma® GEC and Thyroseq® V2 utility and clinical application, and preview the future directions of these rapidly developing technologies.
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