在不确定甲状腺结节中，Affirma 基因测序分类器与基因表达分类器的比较。
Afirma Gene Sequencing Classifier Compared with Gene Expression Classifier in Indeterminate Thyroid Nodules.
机构信息
1Division of Endocrinology, Diabetes, and Metabolism; The Ohio State University and Arthur G. James Cancer Center, Columbus, Ohio.
2Department of Biomedical Informatics, Center for Biostatistics and Bioinformatics, The Ohio State University, Columbus, Ohio.
出版信息
Thyroid. 2019 Aug;29(8):1115-1124. doi: 10.1089/thy.2018.0733. Epub 2019 Jul 17.
The Afirma Gene Expression Classifier (GEC) has been used to further characterize cytologically indeterminate (cyto-I) thyroid nodules into either benign or suspicious categories. However, its relatively low positive predictive value (PPV) limited its use as a classifier for patients with suspicious results. The Afirma Gene Sequencing Classifier (GSC) was developed to improve PPV while maintaining a high negative predictive value (NPV), yet real-world assessment of its performance is lacking. We analyzed all patients who had cyto-I nodules and molecular testing with either GEC or GSC between 2011 and 2018 at a single academic medical center. Clinical information was obtained for 343 GEC-tested nodules and 164 GSC-tested nodules. The GSC had a statistically significant higher benign call rate (76.2% vs. 48.1%, < 0.001), PPV (60.0% vs. 33.3%, = 0.01), and specificity (94.3% vs. 61.4%, < 0.001) than the GEC. Improvement was statistically significant in both Bethesda III and Bethesda IV nodules. In particular, the benign call rate of GSC was significantly higher in nodules with Hürthle cell changes (88.8% vs. 25.7%, < 0.01). The rate of surgical intervention in the indeterminate nodule cohort has decreased by 66.4% since switching to the GSC; 52.5% of indeterminate nodules went to surgery while using the GEC compared with 17.6% with the GSC ( < 0.001). This reduction was statistically significant in nodules with Bethesda III diagnoses, demonstrating a 70.9% decrease (GEC 51.3% vs. GSC 14.9%, < 0.001), and in nodules with Bethesda IV cytology, a 39.2% decrease was noted (GEC 54.8% vs. GSC 33.3%, = 0.003). Data from a single academic tertiary center show an improved specificity and PPV while maintaining high sensitivity and NPV for GSC compared with GEC. A statistically significant increase in benign call rates was observed in GSC compared with GEC, likely indicating fewer false positive results. After implementation of GSC, surgical interventions have been reduced by 68%.
Afirma 基因表达分类器 (GEC) 已被用于进一步将细胞学不确定 (cyto-I) 的甲状腺结节分类为良性或可疑类别。然而，其相对较低的阳性预测值 (PPV) 限制了其作为可疑结果患者的分类器的使用。Afirma 基因测序分类器 (GSC) 的开发是为了提高 PPV，同时保持高阴性预测值 (NPV)，但目前缺乏对其性能的实际评估。
我们分析了 2011 年至 2018 年在一家学术医疗中心进行的 GEC 或 GSC 分子检测的所有 cyto-I 结节患者的临床资料。获得了 343 个 GEC 检测结节和 164 个 GSC 检测结节的临床信息。GSC 的良性检出率（76.2%对 48.1%， < 0.001）、PPV（60.0%对 33.3%， = 0.01）和特异性（94.3%对 61.4%， < 0.001）均具有统计学意义高于 GEC。在 Bethesda III 和 Bethesda IV 结节中均有统计学意义的改善。特别是，GSC 对 Hurthle 细胞改变结节的良性检出率明显更高（88.8%对 25.7%， < 0.01）。自从切换到 GSC 以来，不确定结节队列中的手术干预率下降了 66.4%；使用 GEC 时，52.5%的不确定结节进行了手术，而使用 GSC 时则为 17.6%（ < 0.001）。在 Bethesda III 诊断的结节中，这一降幅具有统计学意义，降幅为 70.9%（GEC 为 51.3%，GSC 为 14.9%， < 0.001），在 Bethesda IV 细胞学的结节中，降幅为 39.2%（GEC 为 54.8%，GSC 为 33.3%， = 0.003）。来自单个学术三级中心的数据显示，与 GEC 相比，GSC 的特异性和 PPV 有所提高，同时保持了高灵敏度和 NPV。与 GEC 相比，GSC 的良性检出率有统计学意义的增加，可能表明假阳性结果减少。在实施 GSC 后，手术干预减少了 68%。
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