RB1基因表达与突变对乳腺癌患者临床预后的影响  

Effect of RB1 gene expression and mutation on the prognosis of breast cancer patients

作　　者：温永琴[1] 徐咏强 何建芳[1] 黄会杰 朱莹 周婵[1] 张丽君[1] WEN Yong-qin;XU Yong-qiang;HE Jian-fang;HUANG Hui-jie;ZHU Ying;ZHOU Chan;ZHANG Li-jun(Department of Pathology,Dongguan People's Hospital,Dongguan 523059,Guangdong,China)

机构地区：[1]东莞市人民医院病理科,广东东莞523059

出　　处：《广东医学》2020年第4期381-385,共5页Guangdong Medical Journal

基　　金：东莞市社会科技发展(一般)项目(201650715001384)。

摘　　要：目的探讨乳腺癌患者组织中RB1基因及蛋白表达与临床特征的关系,并采用生物信息学分析RB1基因表达与突变对临床预后的影响。方法选择行手术治疗的乳腺癌患者共250例,采用免疫组化染色检测癌和癌旁组织中RB1的表达水平,分析RB1表达和临床特征及预后的关系,采用生物信息学分析不同RB1基因表达水平以及RB1基因突变对乳腺癌患者患者预后的影响。结果乳腺癌组织的RB1表达水平显著低于正常癌旁组织,差异有统计学意义(P<0.05),RB1低表达的患者其肿瘤最大径≥3 cm、淋巴结转移以及TNM分期为Ⅲ~Ⅳ期的患者比例均显著高于RB1高表达的患者(P<0.05)。Kaplan-Meier Plotter数据库结果显示RB1高表达患者的无复发生存率显著优于RB1低表达的患者(P<0.001),而cBioPortal数据库结果显示RB1基因突变的乳腺癌患者其总体存活率显著低于非突变的患者(P=0.041),Cox多因素模型分析结果显示乳腺癌患者的TNM分期及RB1表达水平显著影响患者的临床预后(P<0.05)。结论乳腺癌RB1表达水平与肿瘤的大小、淋巴结转移及临床预后密切相关,RB1基因高表达显著改善乳腺癌患者的临床预后,合并RB1基因突变的乳腺癌患者预后较差。Objective To investigate the correlations between RB1 expression and clinical features in breast cancer patients, and to analyze the effects of RB1 gene expression and mutation on the prognosis. Methods A total of 250 patients with breast cancer received surgery in our hospital from January 2015 to June 2017 were selected. The expression of Rb1 in cancer and paracancerous tissues was detected by immunohistochemical staining. The correlations between Rb1 expression and clinical features and prognosis was analyzed. The effects of different Rb1 gene expression levels and Rb1 gene mutation on the prognosis of breast cancer patients was analyzed.Results The expression level of Rb1 in breast cancer tissues was significantly lower than that in normal adjacent tissues(P<0.05). The proportions of patients with tumor size ≥3 cm, lymph node metastasis and TNM stage Ⅲ-Ⅳ with in low Rb1 expression patients were significantly higher than those in patients with high Rb1 expression(P<0.05). The Kaplan-Meier Plotter database showed that the recurrence-free survival rate of patients with high Rb1 expression was significantly higher than those with low Rb1 expression(P<0.001). The cBioPortal database showed that the overall survival of breast cancer patients with Rb1 mutation was significantly lower than that of non-mutant patients(P=0.041). Cox multivariate model analysis showed that TNM stage and Rb1 expression level in breast cancer patients significantly affected the prognosis of patients(P<0.05).Conclusion The expression of Rb1 in breast cancer is closely correlated to tumor size, lymph node metastasis and clinical prognosis. The high expression of Rb1 gene significantly improves the prognosis. The prognosis of breast cancer patients with Rb1 gene mutation is poor.

关 键 词：RB1 乳腺癌 突变 表达水平 临床预后 

分 类 号：R737.9[医药卫生—肿瘤] R446[医药卫生—临床医学]