促甲状腺激素受体突变与分化型甲状腺癌相关性的系统评价

Correlation between thyroid stimulating hormone receptor mutations and differentiated thyroid cancer:A systematic review

目的系统评价分化型甲状腺癌(DTC)患者中促甲状腺激素受体(TSHR)基因突变的情况。方法检索PubMed、Web of Science、Cochrane Library、中国知网、万方数据库有关对DTC患者进行TSHR基因突变检测的研究,检索时限自建库至2020年4月4日,对纳入文献提取相关数据进行分析,并获得DTC患者TSHR基因突变谱。结果共纳入27个研究,包括395个DTC组织样本。TSHR突变频率为10.38%(41/395),其中92.68%(38/41)的突变发生在第10外显子上,M453T发生突变频率最高(6/37,16.22%),其次是F458S(4/37,10.81%)。在描述甲状腺功能状况的50例DTC中,81.82%(18/22)的合并甲状腺功能亢进(甲亢)/亚甲亢患者发生TSHR突变,明显高于甲状腺功能正常者的10.71%(3/28),差异有统计学意义(χ2=25.569,P<0.001)。结论DTC中TSHR突变并不罕见,特别是在低TSH水平下更易出现。TSHR突变可能与DTC发生有关,特别是在合并甲亢情况下。

Objective To systematically evaluate the mutations of thyroid stimulating hormone receptor(TSHR)genes in patients with differentiated thyroid cancer(DTC).Methods A computerized literature search was carried out in PubMed,Web of Science,Cochrane Library,CNKI and Wanfang Data to identify all relevant cases of TSHR gene mutations in DTC patients.The search time period was from the establishment of the database to April 4,2020.The relevant data extracted from the literature were analyzed,and the TSHR gene mutation profile of DTC patients was obtained.Results A total of 27 studies were included,including 395 DTC tissue samples.TSHR mutations were found in 10.38%(41/395)of DTC tissue samples,of which 92.68%mutations occurred in exon 10.M453T had the highest mutation frequency(6/37,16.22%),followed by F458S(4/37,10.81%).In addition,in 50 cases of DTC describing thyroid function,TSH mutations occurred in 81.82%(18/22)tissue samples with hyperthyroidism/subclinical hyperthyroidism,which was significantly higher than 10.71%(3/28)of normal thyroid function.Conclusions TSHR mutations in DTC are not uncommon,especially at low TSH levels.TSHR mutations may be related to the occurrence of DTC,especially DTC with hyperthyroidism.