Moore Maureen D, Panjwani Suraj, Gray Katherine D, Finnerty Brendan M, Zarnegar Rasa, Fahey Thomas J
a Department of Surgery , New York Presbyterian-Weill Cornell Medicine , New York , NY , USA.
Expert Rev Mol Diagn. 2017 Jun;17(6):567-576. doi: 10.1080/14737159.2017.1321987. Epub 2017 Apr 28.
Fine needle aspiration (FNA) with cytologic examination remains the standard of care for investigation of thyroid nodules. However, as many as 30% of FNA samples are cytologically indeterminate for malignancy, which confounds clinical management. To reduce the burden of repeat diagnostic testing and unnecessary surgery, there has been extensive investigation into molecular markers that can be detected on FNA specimens to more accurately stratify a patient's risk of malignancy. Areas covered: In this review, the authors discuss recent evidence and progress in molecular markers used in the diagnosis of thyroid cancer highlighting somatic gene alterations, molecular technologies and microRNA analysis. Expert commentary: The goal of molecular markers is to improve diagnostic accuracy and aid clinicians in the preoperative management of thyroid lesions. Modalities such as direct mutation analysis, mRNA gene expression profiling, next-generation sequencing, and miRNA expression profiling have been explored to improve the diagnostic accuracy of thyroid nodule FNA. Although no perfect test has been discovered, molecular diagnostic testing has revolutionized the management of thyroid nodules.
细针穿刺抽吸活检（FNA）及细胞学检查仍是甲状腺结节检查的标准方法。然而，多达30%的FNA样本在细胞学上无法确定是否为恶性，这给临床管理带来了困扰。为减轻重复诊断检测和不必要手术的负担，人们对可在FNA标本上检测到的分子标志物进行了广泛研究，以更准确地分层患者的恶性风险。涵盖领域：在本综述中，作者讨论了用于甲状腺癌诊断的分子标志物的最新证据和进展，重点介绍了体细胞基因改变、分子技术和微小RNA分析。专家评论：分子标志物的目标是提高诊断准确性，并帮助临床医生对甲状腺病变进行术前管理。人们已经探索了直接突变分析、mRNA基因表达谱分析、下一代测序和miRNA表达谱分析等方法，以提高甲状腺结节FNA的诊断准确性。尽管尚未发现完美的检测方法，但分子诊断检测已经彻底改变了甲状腺结节的管理方式。
