甲状腺结节是内分泌系统的常见病,判别甲状腺结节的良恶性对患者的预后评估有着极其重要的意义.甲状腺细针穿刺抽吸检查对甲状腺结节性质的判断具有重要意义,但仍存在一定的局限性.随着对甲状腺癌分子机制研究的深入,相关基因突变检测有助于判定甲状腺结节的性质及对甲状腺癌进行危险分层评估.BRAF和RAS基因突变是甲状腺癌中研究较为成熟的分子标志物,对甲状腺癌诊断及预后有较高的评估价值.TERTp、RET/PTC、PAX8/PPARγ等相关基因的研究近年来逐渐增多,其为甲状腺癌的早期诊断、预后评估提供了更多的参考.%Thyroid nodule is a common disease of endocrine system,and the diagnosis of benign and malignant nodules is of great significance to the evaluation of prognosis. Fine needle aspiration has great significance in judging the nature of thyroid nodules,but still has some limitations. At present,with the deepening of research on thyroid carcinoma molecular mechanism,related gene mutation detection can help to determine the nature of thyroid nodule and risk stratification of thyroidcarcinoma. BRAF and RAS mutations are the mature molecular markers in thyroid carcinoma and have a high value for thyroid cancer diagnosis and prognosis. TERTp,RET/PTC,PAX8/PPARγ and other related genes have been studied more and more in recent years,providing more valuable evidence for evaluation of the early diagnosis and prognosis.
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