结节性硬化基因1/2突变与肝细胞癌进展及预后的关系  

Association of tuberous sclerosis gene 1/2 mutations with the progression of hepatocellular carcinoma and prognosis

作　　者：张勇[1] 毛正发[1] ZHANG Yong;MAO Zhengfa(Department of General Surgery,The Affiliated Hospital of Jiangsu University,Zhenjiang,Jiangsu 225500,China)

机构地区：[1]江苏大学附属医院普外科,江苏镇江225500

出　　处：《临床肝胆病杂志》2021年第1期84-88,共5页Journal of Clinical Hepatology

基　　金：国家自然科学基金(81502372)。

摘　　要：目的探讨肝细胞癌(HCC)患者结节性硬化基因1/2(TSC1/2)突变与HCC严重程度及预后的关系,为HCC的诊断及治疗提供可行性依据。方法选取2012年1月—2020年1月江苏大学附属医院收治的HCC患者492例,其中59例患者出现TSC1/2基因突变(TSC1突变20例,TSC2突变41例,共同突变2例),分析TSC1/2突变组患者的临床特征,及TSC1/2突变与HCC临床分期相关性。对35例突变组和35例未突变组患者进行3年随访,观察TSC1/2突变对HCC预后的影响。计数资料两组间比较采用χ^2检验;等级资料两组间比较采用Kruskal-Wallis H秩和检验;采用多元logistic回归分析相关性,随访资料采用Kaplan-Meier生存分析。结果492例HCC患者中,TSC1/2基因总体突变率为11.99%。TSC1、TSC2基因突变组患者性别、年龄、Child-Pugh评分及肿瘤大小与未突变组相较差异均无统计学意义(P值均>0.05),两组肿瘤个数、肝外转移情况及PS评分比较差异均有统计学意义(P值均<0.05)。logistic回归分析结果显示,TSC1/TSC2基因突变与HCC临床分期严重程度呈正相关(OR=1.706,P<0.05)。随访结果显示,TSC1/2突变组患者的生存率明显低于未突变组,前者3年病死率高达60.3%,与未突变组(38.6%)比较差异有统计学意义(χ^2=3.923,P<0.05)。结论TSC1/2基因突变可能早期预测HCC的恶性进展,TSC1/2突变的患者预后更差,应用基因突变靶向药物治疗对于延缓HCC发展可能具有一定疗效。Objective To investigate the association of tuberous sclerosis gene 1/2(TSC1/2)mutation with disease severity and prognosis in patients with hepatocellular carcinoma(HCC),and to provide a feasible basis for the diagnosis and treatment of HCC.Methods A total of 492 patients with HCC who were admitted to The Affiliated Hospital of Jiangsu University from January 2012 to January 2020 were enrolled,among whom 59 had TSC1/2 mutations(20 with TSC1 mutations,41 with TSC2 mutations,and 2 had both TSC1 and TSC2 mutations).The clinical features of patients with TSC1/2 mutations were analyzed,and the association of TSC1/2 mutations with the clinical stage of HCC was analyzed.The 35 patients in the mutation group and 35 in the non-mutation group were followed up for 3 years to observe the effect of TSC1/2 mutations on the prognosis of HCC.The chi-square test was used for comparison of categorical data between groups;the Kruskal-Wallis H test was used for comparison of ranked data between groups;a multivariate logistic regression analysis was used to investigate association;the Kaplan-Meier survival analysis was used to analyze follow-up data.Results For the 492 patients with HCC,the overall TSC1/2 mutation rate was 11.99%.There were no significant differences in sex,age,Child score,and tumor size between the TSC1/TSC2 mutation group and the non-mutation group(all P>0.05),while there were significant differences in tumor number,extrahepatic metastasis,and PS score between the two groups(all P<0.05).The logistic regression analysis showed that TSC1/TSC2 gene mutation was positively correlated with the severity of HCC(odds ratio=1.706,P<0.05).The follow-up results showed that the TSC1/2 mutation group had a significantly lower survival rate than the non-mutation group,and there was a significant difference in 3-year mortality rate between the TSC1/2 mutation group and the non-mutation group(60.3%vs 38.6%,χ^2=3.923,P<0.05).Conclusion TSC1/TSC2 gene mutation may predict the malignant progression of HCC in the early stage,and pat

关 键 词：癌 肝细胞 结节性硬化症 基因 突变 

分 类 号：R735.7[医药卫生—肿瘤]