aDepartment of Surgery, St. Joseph Hospital bSection of Endocrine Surgery, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Curr Opin Oncol. 2014 Jan;26(1):14-21. doi: 10.1097/CCO.0000000000000040.
Multiple genetic mutations have been found to be associated with thyroid cancer, and molecular testing of thyroid nodule fine-needle aspiration (FNA) specimens has been proposed as an adjunct to the cytologic diagnosis. The purpose of this review is to examine how molecular testing of FNAs could be used to guide surgical decision-making.
B-type RAF kinase mutations in papillary thyroid cancer have been found to be associated with extrathyroidal extension, lymph node metastases, and advanced stage in two meta-analyses that are based largely on retrospective data. Testing for a panel of gene mutations has been found to have high specificity and positive predictive value, whereas microarray testing using a commercially available gene-expression classifier has been found to have high sensitivity and negative predictive value for the diagnosis of malignancy in cytologically indeterminate FNAs. Although there is no consensus regarding the use of such tests, they have already started to change clinical practice.
Molecular testing of FNA specimens may help to avoid diagnostic thyroidectomy or may help in deciding the extent of surgery in a patient with an indeterminate FNA biopsy. The use of these tests is currently undergoing review by a task force within the American Thyroid Association.
已发现多种基因突变与甲状腺癌相关，甲状腺结节细针抽吸（FNA）标本的分子检测已被提议作为细胞诊断的辅助手段。本文旨在探讨如何利用 FNA 的分子检测来指导手术决策。
两项主要基于回顾性数据的荟萃分析发现，B 型 RAF 激酶突变与甲状腺癌的甲状腺外侵犯、淋巴结转移和晚期有关。检测一组基因突变的特异性和阳性预测值均较高，而使用商业上可用的基因表达分类器进行的微阵列检测对细胞学不确定的 FNA 恶性肿瘤的诊断具有较高的灵敏度和阴性预测值。尽管对于这些检测的使用尚无共识，但它们已经开始改变临床实践。
FNA 标本的分子检测有助于避免诊断性甲状腺切除术，或者有助于确定细胞学不确定的 FNA 活检患者的手术范围。这些检测的使用目前正在由美国甲状腺协会的一个工作组进行审查。
