Risk stratification of indeterminate thyroid nodules by novel multigene testing: a study of Asians with a high risk of malignancy.
Risk stratification of indeterminate thyroid nodules by novel multigene testing: a study of Asians with a high risk of malignancy.
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DOI：
10.1002/1878-0261.13205
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发表时间：
2022-04
影响因子：
6.6
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中科院分区：
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不确定甲状腺结节的分子检测可以发现点突变、插入/缺失、拷贝数变异、RNA融合、转录物改变和miRNA表达的存在。美国甲状腺协会（ATA）指南建议，不确定甲状腺结节的分子检测可以考虑补充恶性肿瘤（ROM）的风险。虽然这些建议在美国已被纳入临床实践，但对不确定甲状腺结节的分子检测在亚洲并不常见。在这里，我们使用一种由RNA和DNA - RNA分类器组成的新型分子平台对来自中国患者的140个不确定结节进行了分子检测，该平台类似于Afirma GEC和ThyroSeq v3。与北美的报告相比，新的RNA和DNA‐RNA分类器具有更高的阳性预测值（p1 = 0.000和p2 = 0.020），但具有更低的阴性预测值（p1 = 0.004和p2 = 0.098），在敏感性（p1 = 0.625和p2 = 0.179）或特异性（p1 = 0.391和p2 = 0.264）方面没有显著差异。在58个切除的结节中，10个为交界性结节，33个为恶性结节，表明74.1%的ROM，高于北美报告的10 - 40% ROM。我们的研究结果强调，当ROM较高时，使用新报道的RNA和DNA - RNA分类器进行分子测试可以作为“规则”测试。约20%的甲状腺细胞学检查结果是不确定的，分子检测可用于风险分层。在这里，我们开发了一个新的分子平台，并进行了不确定甲状腺结节的分子检测。我们的研究结果强调，使用新报道的RNA和DNA - RNA分类器进行分子检测具有很高的阳性预测价值，可以作为亚洲的“规则”测试。
Molecular testing of indeterminate thyroid nodules informs about the presence of point mutations, insertions/deletions, copy number variants, RNA fusions, transcript alterations and miRNA expression. American Thyroid Association (ATA) guidelines suggest molecular testing of indeterminate thyroid nodules may be considered to supplement risk of malignancy (ROM). Although these recommendations have been incorporated in clinical practices in the United States, molecular testing of indeterminate thyroid nodules is not common practice in Asia. Here, we performed molecular testing of 140 indeterminate nodules from Chinese patients using a novel molecular platform composed of RNA and DNA‐RNA classifiers, which is similar to Afirma GEC and ThyroSeq v3. Compared with reports from North America, the new RNA and DNA‐RNA classifiers had a higher positive predictive value (p1 = 0.000 and p2 = 0.020) but a lower negative predictive value (p1 = 0.004 and p2 = 0.098), with no significant differences in sensitivity (p1 = 0.625 and p2 = 0.179) or specificity (p1 = 0.391 and p2 = 0.264). Out of 58 resected nodules, 10 were borderline and 33 malignant, indicating a 74.1% ROM, which was higher than reports in North America (10–40% ROM). Our findings emphasize molecular testing with the newly reported RNA and DNA‐RNA classifiers can be used as a ‘rule‐in’ test when ROM is high. About 20% of thyroid cytology findings are indeterminate, and molecular testing can be used for risk stratification. Here, we developed a novel molecular platform and performed molecular testing of indeterminate thyroid nodules. Our findings emphasize that molecular testing with the newly reported RNA and DNA‐RNA classifiers has a high positive predictive value and can be used as a ‘rule‐in’ test in Asia.