基因变异与乳头状甲状腺癌诊断、治疗及预后关系:文献综述

Relation between genetic variations and diagnosis,treatment,or prognosis of papillary thyroid cancer:a literature review

目的了解常见基因变异在乳头状甲状腺癌(papillary thyroid carcinoma,PTC)诊断、治疗及预后中的意义。方法对国内外有关PTC的基因变异的相关研究的文献进行综述。结果PTC中基因变异在临床研究中较常见的主要有BRAF、TERT启动子、RAS、RET等基因的突变或重排,它们对PTC的诊断有一定的价值,但针对其治疗的药物相对有限;而且还发现,PTC中多种基因共突变也比较常见,其预后往往更差。结论通过对PTC中基因变异的梳理,为PTC的诊断、治疗和预后提供了新的思路和方法,通过检测基因变异类型,有助于预测甲状腺癌的发生、发展和预后,并为患者制定个体化的治疗方案。

Objective To understand the significance of common gene variations in the diagnosis,treatment,and prognosis of papillary thyroid cancer(PTC).Method The literature relevant research on PTC gene variations both domestically and internationally was reviewed.Results The most common genetic variations in the PTC in clinical studies included mutations or rearrangements in BRAF,TERT promoter,RAS,RET,and other genes,which had certain diagnostic value for PTC,but the drugs available for their treatment was relatively limited;Moreover,it had been found that multiple genes co-mutations were also common in the PTC,and the prognosis was often worse.Conclusions By sorting out the genetic variations in PTC,new ideas and methods are provided for the diagnosis,treatment,and prognosis of PTC.By detecting the types of genetic variations,the occurrence,development,and prognosis of PTC can be predicted,and personalized treatment plans can be developed for patients with PTC.