PDF(Pubmed)
Abstract：
The high prevalence of thyroid nodules and increased availability of neck ultrasound have led to an increased incidence of diagnostic thyroid fine needle aspirations, with approximately 20% yielding indeterminate results. The recent availability of molecular tests has helped guide the clinical management of these cases. This paper aims to review and compare three main commercially available molecular cytology platforms in the U.S.-Afirma GSC, Thyroseq GC, and ThyGeNEXT + ThyraMIR. Sequential improvements of the Afirma GSC and Thyroseq GC tests have increased positive and negative predictive values, sensitivity, and specificity. Comparative studies revealed similar diagnostic performance between these tests, with considerations for factors such as cost and processing time. Thyroseq GC provides detailed genomic information and specific management recommendations. ThyGeNEXT + ThyraMIR, though less studied, presents promising results, particularly in miRNA analysis for weak driver mutations. Challenges in interpreting results include variations in reporting and the evolving nature of testing platforms. Questions persist regarding cost-effectiveness and the utility of ultrasound characteristics in selecting candidates for molecular testing. While molecular testing has primarily served diagnostic purposes, advancements in understanding genetic alterations now offer therapeutic implications. FDA-approved options target specific genetic alterations, signaling a promising future for tailored treatments.
摘要：
甲状腺结节的高患病率和颈部超声检查的可用性增加导致诊断性甲状腺细针穿刺的发生率增加，大约20%产生不确定的结果。最近的分子检测有助于指导这些病例的临床管理。本文旨在回顾和比较美国AfirmaGSC中三个主要的商用分子细胞学平台，ThyroseqGC,和ThyGeNEXT+ThyraMIR。AfirmaGSC和ThyroseqGC测试的顺序改进增加了阳性和阴性预测值，灵敏度,和特异性。比较研究表明，这些测试之间的诊断性能相似，考虑成本和处理时间等因素。ThyroseqGC提供了详细的基因组信息和具体的管理建议。ThyGeNEXT+ThyraMIR,虽然研究较少，提出了有希望的结果，特别是在弱驱动突变的miRNA分析中。解释结果的挑战包括报告的变化和测试平台的不断发展的性质。关于成本效益和超声特性在选择分子测试候选人中的实用性的问题仍然存在。虽然分子检测主要用于诊断目的，理解遗传改变的进步现在提供了治疗意义。FDA批准的选项针对特定的遗传改变，为量身定制的治疗方案预示着一个有希望的未来。
