21例上皮性卵巢癌患者BRCA基因突变及临床资料分析

Analysis of BRCA Gene Mutation and Clinical Data in 21 Cases of Epithelial Ovarian Cancer

目的:了解上皮性卵巢癌(EOC)患者的乳腺癌易感基因(BRCA)突变情况,分析其与临床资料的关系。方法:收集2015年11月至2017年9月在深圳市第二人民医院妇科初治的21例EOC患者的BRCA基因检测情况,根据BRCA基因检测结果分为BRCA基因突变阳性组(3例)和阴性组(18例),对两组患者的临床资料进行比较和分析。结果:纳入的21例EOC患者均无家族患病史,BRCA基因突变共3例(占14.3%),均为BRCA1基因突变;两组患者的血清糖类抗原125(CA125)、人附睾蛋白4(HE4)、国际妇产科联盟(FIGO)分期、组织病理学类型、组织分化程度、铂敏感性比较,差异均无统计学意义(P>0.05);阳性组的无瘤生存期长于阴性组,总生存期短于阴性组,差异均无统计学意义(P>0.05)。结论:本研究EOC患者的BRCA基因突变率虽不及国内报道水平,但也在世界多国报道水平之间。BRCA基因突变情况与患者的临床资料无明显相关性。

Objective To analyze BRCA gene mutation in patients with epithelial ovarian cancer(EOC)and its relationship with clinical data.Methods The newly treated EOC patients in the Department of Gynecology of Shenzhen Second People’s Hospital from November 2015 to September 2017 were collected and tested for BRCA gene mutation status.According to the BRCA genetic test results,the patients were divided into the BRCA gene mutation positive group and the negative group.And statistical analysis of patient clinical data was performed.Results A total of 21 patients with EOC without family history of disease were enrolled,including 3 cases of BRCA gene mutation(the mutation rate of BRCA gene was 14.3%),all of which were BRCA1 gene mutations.There were no statistically significant differences in serum CA-125,HE4,FIGO stage,pathological types,degree of tissue differentiation and sensitivity to platinum drugs between two groups.The tumor-free survival of the positive group was longer than that of the negative group,but the overall survival was shorter in the positive group than that in the negative group,and the difference was not statistically significant.Conclusions The mutation rate of BRCA gene in EOC patients is lower than domestic reports,but it remains at the level reported in multiple countries around the world.There was no correlation between BRCA gene mutation and clinical data.