颈动脉体瘤线粒体琥珀酸脱氢酶基因突变与临床病理特征的关系及其对患者预后的预测价值  

Relationship between mitochondrial succinate dehydrogenase gene mutation and clinicopathological features of carotid body tumor and its predictive value for prognosis

作　　者：化召辉[1] 蔡高坡[1] 张林枫[1] 刘仕睿 岳永强[1] 李震[1] Hua Zhaohui;Cai Gaopo;Zhang Linfeng;Liu Shirui;Yue Yongqiang;Li Zhen(Department of Endovascular Surgery,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附属医院腔内血管外科,450052

出　　处：《中华实验外科杂志》2020年第1期124-127,共4页Chinese Journal of Experimental Surgery

摘　　要：目的分析颈动脉体瘤(CBT)线粒体琥珀酸脱氢酶(SDH)亚单位(A、B、C、D)基因突变与临床病理特征的相关性,并探讨其对患者预后的预测价值。方法选取2013年8月至2016年7月郑州大学第一附属医院散发性CBT患者95例,其中男43例,女52例,年龄范围为39~70岁,均为单侧肿瘤(左侧55例/右侧40例),肿瘤直径1.5~10.0 cm,Glenner分型为化学感受器瘤47例,嗜铬细胞瘤44例,混合型4例,设为CBT组;另取健康受试者95例,其中男41例,女54例,年龄范围为10~69岁,设为健康组。采用聚合酶链反应(PCR)法扩增SDH各亚单位基因外显子并测定DNA序列,分析基因突变情况,比较CBT组与健康组SDH各亚单位基因突变率,并分析突变率有差异的亚单位基因与患者临床病理特征的关系及对预后生存的影响,探讨对预后的预测价值。理论频数<1的组间计数资料比较采用Fisher精确检验,1~5则采用校正检验,>5则采用检验,等级计数资料采用秩和检验;应用Logistic回归分析法分析计算比值比(OR)及95%可信区间(CI)。结果CBT组SDHB、SDHD突变率分别为26.32%、8.84%。CBT组与健康组SDHA、SDHC、SDHD突变率比较,差异均无统计学意义(χ^2=2.021、2.212,P>0.05);CBT组SDHB突变率高于健康组(χ^2=18.472,P<0.05),差异有统计学意义。SDHB突变组与未突变组性别、年龄、体重指数(BMI)、病变部位、肿瘤大小、Shamblin分型、浸润包膜患者、术中保留颈动脉患者构成比比较,差异均无统计学意义(χ^2/Z=1.175、0.064、1.375、0.484、1.579、0.578、0.685、1.821,P>0.05);SDHB突变组包膜不完整、浸润临近软组织、有淋巴结转移构成比高于SDHB未突变组(χ^2/Z=4.859、5.566、9.365,P<0.05);Logistic回归分析显示,年龄>60岁、包膜不完整、浸润临近软组织、有淋巴结转移及SDHB突变均是导致CBT患者预后不良的危险因素[比值比(OR)=2.264、3.596、3.117、3.320、2.440,P<0.05],差异有统计学意义。95例患者中位随访�Objective To analyze the correlation between mitochondrial succinate dehydrogenase(SDH)subunit(A,B,C,D)gene mutations and clinicopathological features of carotid body tumor(CBT)and to explore its prognostic value.Methods Ninety-five patients with sporadic CBT(CBT group)(male 43/female 52),aged 39-70 years old,were all unilateral tumors(55 left/40 right),with tumor diameter of 1.5-10.0 cm.Glenner’s classification was as follows:chemoreceptor tumor in 47 cases,pheochromocytoma in 44 cases,mixed type in 4 cases.The 95 healthy subjects(male 41/female 54),aged 10-69,were selected as the healthy group.PCR was used to amplify the exons of each sub unit gene of SDH and determine the DNA sequence.The gene mutation rate of each sub unit of SDH in CBT group and healthy group was compared.The relationship between the subunits with different mutation rate and the clinicopathological characteristics of the patients and the influence on the prognosis and survival were analyzed,and its predictive value to prognosis was analyzed by logistic regression analysis,and the survival rate of Kaplan Meier was analyzed.Results The mutation rate of SDHB and sDHD in CBT group was 26.32%and 8.84%,respectively.There were no significant differences in the mutation rate of SDHA,SDHC and SDHD between the CBT group and the healthy group(χ^2=2.021,2.212,P>0.05).The mutation rate of SDHB in the CBT group was significantly higher than that in the healthy group(χ^2=18.472,P<0.05).There was no significant difference in the proportion of sex,age,body mass index(BMI),lesion location,tumor size,Shamblin classification,patients with infiltrative capsule and preserved carotid artery patients between SDHB mutation group and non-mutation group(χ^2/Z=1.175,0.064,1.375,0.484,1.579,0.578,0.685,1.821,P>0.05).The proportion of capsule incompleteness,infiltration of adjacent soft tissue and lymph node metastasis in SDHB mutation group was significantly higher than that in SDHB mutation group(χ^2/Z=4.859,5.566,9.365,P<0.05).Logistic regression analysis showed

关 键 词：颈动脉体瘤 线粒体琥珀酸脱氢酶 基因突变 病理特征 预后 

分 类 号：R73[医药卫生—肿瘤]