76例卵巢上皮性癌患者的基因突变状况及临床资料分析

Gene Mutation Status and Clinical Data in 76 Cases of Epithelial Ovarian Cancer

目的:探讨卵巢癌患者基因突变与临床病理因素的相关性。方法:回顾性分析了2018年9月至2019年9月在我中心接受治疗并已有基因检测结果的卵巢癌患者情况。结果:共纳入76例患者,Ⅰ期12例(15.78%),Ⅱ期7例(9.21%),Ⅲ期49例(64.47%),Ⅳ期6例(7.89%),分期不详2例(2.63%);高级别浆液性癌39例(51.32%),低级别浆液性癌2例(2.63%),非浆液性癌13例(17.11%),22例(28.95%)具体病理类型不详。基因检测时处于初治阶段的有56.58%。在15例仅行了乳腺癌易感基因(breast cancer susceptibility gene,BRCA)检测的患者中,4例(26.67%)存在BRCA1突变,1例(6.67%)存在BRCA2突变。在61例行全基因检测的患者中,胚系基因可能致病性突变和致病性突变有:5例BRCA1(8.20%)、2例BRCA2(3.28%)、1例MUTYH(1.64%)、1例CFTR(1.64%)、1例CHEK2(1.64%)、1例RAD51D(1.64%);体系基因致病性突变有:2例TP53(3.28%)。相关性分析发现,BRCA2突变与病理类型、治疗阶段相关,CHEK2突变与FIGO分期相关,MUTYH突变与治疗阶段相关,RAD51D突变与肿瘤部位相关(P<0.05)。结论:卵巢癌中基因突变与病理类型、FIGO分期、所处治疗阶段、肿瘤部位相关。因仅为初步探索性研究,样本量较小,所得结论及具体机制还需进一步证实。

Objective:To explore the correlation between gene mutations and clinical pathological factors in ovarian cancer patients.Methods:We retrospectively analyzed the data of ovarian cancer patients who were treated in our center between September 2018 and September 2019 with genetic test results.Results:A total of 76 patients were enrolled,including 12 cases in stageⅠ(15.78%),7 cases in stageⅡ(9.21%),49 cases in stageⅢ(64.47%),6 cases in stageⅣ(7.89%),and 2 cases in unknown stage(2.63%).There were 39 cases(51.32%)of high-grade serous carcinoma,2 cases(2.63%)of low-grade serous carcinoma,13 cases(17.11%)of non-serous carcinoma,and 22 cases(28.95%)of unknown pathological type.56.58%of the patients re-ceived genetic test in the initial treatment.Of the 15 patients who had breast cancer susceptibility gene(BRCA)test,4(26.67%)had BRCA1 mutation and 1(6.67%)had BRCA2 mutation.In 61 patients undergoing detection for cancer-associated genes,11 cases of germline mutations[5 cases of BRCA1(8.20%),2 cases of BRCA2(3.28%),1 case of MUTYH(1.64%),1 case of CFTR(1.64%),1 case of CHEK2(1.64%)and 1 case of RAD51D(1.64%)]and 2 ca-ses of somatic mutation[TP53(3.28%)]were observed.BRCA2 mutation was related to pathological type and the stage of treatment;CHEK2 mutation was related to FIGO stage;MUTYH mutation was related to the stage of treatment;RAD51D mu-tation was related to the site of tumor(P<0.05).Conclusion:Gene mutations in ovarian cancer are related to pathological type,FIGO stage,stage of treatment and site of tumor.These conclusions and specific mechanisms need to be further con-firmed because the sample size is small only for preliminary exploratory studies.