基于结节大小的不确定甲状腺结节的基因组分类器的预测价值。
Predictive Value of a Genomic Classifier in Indeterminate Thyroid Nodules Based on Nodule Size.
机构信息
New York University Grossman School of Medicine, New York.
Department of Radiology, NYU Langone Medical Center, New York, New York.
出版信息
JAMA Otolaryngol Head Neck Surg. 2022 Jan 1;148(1):53-60. doi: 10.1001/jamaoto.2021.3080.
IMPORTANCE
Genomic classifiers were developed to better guide clinicians in the treatment of indeterminate thyroid nodules (ITNs). To our knowledge, whether there is variation in the diagnostic accuracy of these tests depending on ITN size has not been previously studied.
OBJECTIVE
To analyze the diagnostic performance of a genomic classifier in relation to ITN size.
DESIGN, SETTING, AND PARTICIPANTS: A case series study with medical records review was conducted including all patients with a cytologic diagnosis of ITN managed with genomic classifier testing and surgery from January 2015 to December 2018 at NYU Langone Health. Demographics, ITN characteristics, genomic profiles, treatment, and final pathologic findings were recorded. Data analysis was conducted from March to April 2021.
MAIN OUTCOMES AND MEASURES
The primary aim was to assess the positive predictive value (PPV), negative predictive value (NPV), sensitivity, and specificity of a genomic classifier test (ThyroSeq) in relation to ITN size (<2, 2-4, and >4 cm). The secondary aim was to investigate the risk of cancer associated with genetic signatures.
RESULTS
Of the 212 patients with 218 ITNs, 158 (74.5%) were women; median (SD) age was 49 (15.6) years. Genomic classifier results were positive in 173 ITNs (79.4%) treated with surgery. In this group of 173 positive ITNs, 46 (26.6%) were malignant on final pathologic testing. Overall, the observed cancer prevalence in the population was 23.9% (52 ITNs). In 45 ITNs that underwent surgery despite a negative genomic classifier interpretation, 6 (13.3%) were malignant. The PPV of a positive test was 27% and the NPV was 87%. The PPV and NPV findings improved as the ITN size increased (<2 cm [n = 98]: PPV, 25%; NPV, 79% vs >4 cm [n = 33]: PPV, 50%; NPV, 89%). Test specificity was higher in larger ITNs (<2 cm: 15% vs >4 cm: 40%; P = .01). Isolated RAS sequence variations were the most common variant identified in malignant nodules (11 [21.1%] of all ITNs), followed by BRAF variants (7 [13.5%] of all ITNs).
CONCLUSIONS AND RELEVANCE
In this case series, the performance of the ThyroSeq test improved for larger ITNs. The risk of cancer in large ITNs with negative test results was low. These data suggest that, in genomic classifier-negative ITNs larger than 4 cm, initial management of thyroid lobectomy may be sufficient.
重要性
基因组分类器的开发是为了更好地指导临床医生治疗不确定的甲状腺结节（ITN）。据我们所知，这些检测的诊断准确性是否因 ITN 大小而异，尚未进行过研究。
目的
分析基因组分类器与 ITN 大小相关的诊断性能。
设计、地点和参与者：这是一项病例系列研究，对 2015 年 1 月至 2018 年 12 月在 NYU Langone Health 接受细胞学诊断为 ITN 并接受基因组分类器检测和手术的所有患者的病历进行了回顾性分析。记录了人口统计学、ITN 特征、基因组谱、治疗和最终病理结果。数据分析于 2021 年 3 月至 4 月进行。
主要结果和措施
主要目的是评估基因组分类器（ThyroSeq）检测的阳性预测值（PPV）、阴性预测值（NPV）、敏感性和特异性与 ITN 大小（<2、2-4 和>4cm）的关系。次要目的是研究与遗传特征相关的癌症风险。
结果
在 218 个 ITN 中，有 212 名患者，其中 158 名（74.5%）为女性；中位（SD）年龄为 49（15.6）岁。173 个经手术治疗的 ITN 中基因组分类器结果为阳性。在这组 173 个阳性 ITN 中，46 个（26.6%）最终病理检查为恶性。总体而言，人群中的癌症患病率为 23.9%（52 个 ITN）。在 45 个尽管基因组分类器检测结果为阴性但仍接受手术的 ITN 中，有 6 个（13.3%）为恶性。阳性检测的 PPV 为 27%，NPV 为 87%。随着 ITN 大小的增加（<2cm[n=98]：PPV，25%；NPV，79% vs >4cm[n=33]：PPV，50%；NPV，89%），PPV 和 NPV 发现有所改善。在较大的 ITN 中，检测的特异性更高（<2cm：15% vs >4cm：40%；P=0.01）。在所有 ITN 中，最常见的变异是孤立的 RAS 序列变异（11 个[21.1%]），其次是 BRAF 变异（7 个[13.5%]）。
结论和相关性
在本病例系列研究中，ThyroSeq 检测在较大的 ITN 中性能有所提高。阴性检测结果的大 ITN 患癌风险较低。这些数据表明，在基因组分类器阴性的大于 4cm 的 ITN 中，甲状腺叶切除术的初始治疗可能就足够了。
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