Arnie Charbonneau Cancer Institute, University of Calgary Cumming School of Medicine, Calgary, Alberta, Canada.
Departments of Oncology, Pathology and Laboratory Medicine, Biochemistry and Molecular Biology, University of Calgary Cumming School of Medicine, Universitätsklinikum Halle, Institute of Pathology.
Eur J Endocrinol. 2022 Jul 29;187(3):R41-R52. doi: 10.1530/EJE-21-1293. Print 2022 Sep 1.
Genetic testing is increasingly used to diagnose or rule out thyroid cancer in indeterminate fine-needle aspirations. This review evaluates the usefulness of these methods with considerations of advantages and limitations.
Given the diagnostic problem associated with the increasing incidental detection of indeterminate thyroid nodules in the context of thyroid cancer overtreatment, we consider the conditions and respective necessary settings for the role of genetic testing to improve presurgical malignancy risk stratification.
We review diagnostic pathway requirements and commercially available molecular tests with their respective advantages and disadvantages and discuss the prerequisites required for local application and implementation including quality assurance for local ultrasound and cytopathology practices.
Recent improvements in available molecular diagnostic tests have brought high sensitivity and specificity in initial validation studies, but whether these promising results translate to other clinical settings depends on the quality of the local thyroid nodule diagnostic pathway.
Genetic testing can meaningfully improve presurgical malignancy risk assessment, but more work is needed to implement and use genetic testing effectively in local settings.
基因检测越来越多地用于诊断或排除不确定的细针抽吸甲状腺癌。本综述考虑了这些方法的优缺点，评估了它们的有用性。
鉴于甲状腺癌过度治疗背景下偶然发现的不确定甲状腺结节的诊断问题，我们考虑了基因检测在提高术前恶性肿瘤风险分层方面的作用的条件和各自的必要设置。
我们回顾了诊断途径要求和商业上可用的分子检测及其各自的优缺点，并讨论了包括对当地超声和细胞学实践的质量保证在内的本地应用和实施所需的前提条件。
现有分子诊断检测的最新改进在最初的验证研究中带来了高灵敏度和特异性，但这些有希望的结果是否转化为其他临床环境取决于当地甲状腺结节诊断途径的质量。
基因检测可以有意义地提高术前恶性肿瘤风险评估，但需要做更多的工作来在当地环境中有效地实施和使用基因检测。
