子宫内膜异位症相关性卵巢癌组织中ARID1A、PTEN基因突变与临床病理特征及预后的关系研究  

Study on the relationship between mutations of ARID1A and PTEN genes and clinicopathological features and prognosis of endometriosis associated ovarian cancer

作　　者：高秀娟[1] 张雅丽[1] 庄新荣[1] GAO Xiujuan;ZHANG Yali;ZHUANG Xinrong(Department of Gynecology,Affiliated Hospital of Chengde Medical University,Chengde,Hebei 067000,China)

机构地区：[1]承德医学院附属医院妇科,河北承德067000

出　　处：《中国优生与遗传杂志》2022年第7期1132-1139,共8页Chinese Journal of Birth Health & Heredity

摘　　要：目的 探讨子宫内膜异位症相关性卵巢癌(EAOC)组织中AT丰富结合域1A(ARID1A)基因、磷酸酶和张力蛋白同源物(PTEN)基因突变与临床病理特征及预后的关系。方法 收集2012年1月至2017年1月承德医学院附属医院确诊的45例EAOC患者临床资料,分为突变组和未突变组。分析基因突变与临床病理特征关系及EAOC患者预后的独立危险因素。结果 45例EAOC患者ARID1A、PTEN基因突变率分别为57.78%和22.22%。ARID1A、PTEN基因突变均与临床分期、月经失调和血清糖类抗原125(CA125)有关,且分别与肿瘤大小、绝经有关。EAOC患者预后独立危险因素包括国际妇产联盟(FIGO)分期、淋巴结转移、手术残余病灶、血清CA125、ARID1A及PTEN基因突变。结论 EAOC患者ARID1A基因突变率高于PTEN基因。ARID1A、PTEN基因突变均与患者临床分期、月经失调和血清CA125有关,且分别与肿瘤大小、绝经有关。两种基因发生突变均会促进EM的恶化及EAOC的发生发展,不利于患者预后。Objective To investigate the relationship between mutations in AT rich interaction domain 1A(ARID1A)gene, phosphate and tension homology deleted on chromsome ten(PTEN) genes and clinicopathological features and prognosis in endometriosis associated ovarian cancer(EAOC). Methods Clinical data of 45 EAOC patients diagnosed in our hospital from January 2012 to January 2017 were collected and divided into mutation group and non-mutation group. The relationship between gene mutation and clinicopathological features and independent risk factors for prognosis of EAOC patients were analyzed. Results The mutation rates of ARID1A and PTEN in 45 EAOC patients were 57.78% and 22.22%, respectively. The mutations of ARID1A and PTEN genes were related to clinical stage, menstrual disorder and serum carbohydrate antigen 125(CA125), and were related with tumor size and menopause, respectively. Independent risk factors for EAOC patients included the Federation International of Gynecology and Obstetrics(FIGO) stage, lymph node metastasis, surgical residual lesion, serum CA125,ARID1A and PTEN genes mutations. Conclusion The mutation rate of ARID1A gene was higher than that of PTEN gene in EAOC patients. Mutations of ARID1A and PTEN genes were related to clinical stage, menstrual disorder and serum CA125, and were related to tumor size and menopause, respectively. Mutations in both genes can promote the deterioration of EM and the occurrence and development of EAOC, which is not conducive to the prognosis of patients.

关 键 词：子宫内膜异位症相关性卵巢癌 AT丰富结合域1A基因 磷酸酶和张力蛋白同源物基因 临床病理特征 预后 

分 类 号：R711.71[医药卫生—妇产科学] R737.31[医药卫生—临床医学]