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作 者:张丽娜[1] 刘超[1] 徐书杭[1] Zhang Lina;Liu Chao;Xu Shuhang(Department of Endocrinology and Metabolism,Affiliated Hospital of Integrated Traditional Chinese and Western Medicine,Nanjing University of Chinese Medicine,Nanjing 210028,China)
机构地区:[1]南京中医药大学附属中西医结合医院内分泌科,南京210028
出 处:《国际内分泌代谢杂志》2025年第1期31-34,共4页International Journal of Endocrinology and Metabolism
基 金:江苏省卫生健康委员会,2020年度医学科研资助项目(M2020102);2020年江苏省重点研发计划资助项目(BE2020726)。
摘 要:RET基因的突变/融合在甲状腺癌的形成和发展中起到重要的调控作用。RET基因的体系突变检测能协助诊断性质不确定的甲状腺结节并评估其进展风险。同时,胚系突变的检测对遗传性甲状腺癌筛查和管理也有一定价值。近年来临床试验证实了RET抑制剂治疗晚期甲状腺癌患者的有效性与安全性,但其耐药机制是一个积极研究的领域,RET基因与甲状腺癌的关系及其作用机制也有待未来进一步探索。It has been established that the RET gene′s mutation or fusion plays a crucial regulatory function in the emergence and development of thyroid cancer.Identifying somatic RET mutations can help with the diagnosis of thyroid nodules with unknown characteristics and the prediction of their prognosis.Additionally,the identification of germline mutations has some value for the detection and treatment of hereditary thyroid cancer.Clinical trials have recently demonstrated the efficiency and safety of RET inhibitors in the treatment of patients with advanced thyroid cancer.However,its drug resistance mechanism is a current area of study,and future research is required to better understand the connection between the RET gene and thyroid cancer as well as its mode of action.
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