胃肠道间质瘤的基因检测与临床、病理、影像的相关性研究  

The correlation between molecular types of gastrointestinal stromal tumors and clinicopathologic features and enhancement of MSCT

作　　者：李晓燕 蔡存伟 徐宝金 张丽娜 林凡入 张勇 LI Xiao-yan;CAI Cun-wei;XU Bao-jin;ZHANG Li-na;LIN Fan-ru;ZHANG Yong(Pathology department,Cancer hospital of China medical university&liaoning cancer hospital,Shenyang 110042,China;General surgery department,Cancer hospital of China medical university&liaoning cancer hospital,Shenyang 110042,China;Imaging department,Cancer hospital of China medical university&liaoning cancer hospital,Shenyang 110042,China)

机构地区：[1]中国医科大学肿瘤医院辽宁省肿瘤医院病理科,辽宁沈阳1100042 [2]中国医科大学肿瘤医院辽宁省肿瘤医院普外科,辽宁沈阳1100042 [3]中国医科大学肿瘤医院辽宁省肿瘤医院影像科,辽宁沈阳1100042

出　　处：《解剖科学进展》2020年第6期693-696,共4页Progress of Anatomical Sciences

基　　金：辽宁省自然科学基金(201601415,20170540559)。

摘　　要：目的探讨胃肠道间质瘤(gastrointestinal stromal tumor,GIST)中c-Kit/PDGFRA基因突变、琥珀酸脱氢酶(SDHB)表达缺失与临床病理特征的关系以及MSCT影像学表现在GIST分子诊断过程中的临床应用价值。方法收集2009年1月至2017年10月中经手术病理证实的172例GIST患者的临床、病理和影像学资料,采用直接测序法检测标本中c-Kit/PDGFRA基因突变情况,随后在野生型GIST中应用免疫组织化学染色的方法检测SDHB表达情况。结果与野生型相比,c-Kit/PDGFRA基因突变型GIST更易发生在年龄大的患者、肿瘤坏死及核分裂象易见、危险度分级更高、CD34、CD117及DOG-1的阳性表达率更高(P<0.05)。SDHB缺陷型GIST与野生型相比,较少出现肿瘤坏死及Ki-67增殖指数较低,SDHB缺陷型和SDHB野生型GIST在增强△CT值间的差异显著(P<0.05),SDHB缺陷型的增强△CT值明显高于野生型。而c-Kit/PDGFRA基因是否突变在增强△CT值间的差异不显著,两组平扫期△CT值的对比均无统计学意义(P>0.05)。结论GIST中c-kit/PDGFRA基因的突变与SDHB的表达具有不同的临床及病理学特征,CD34、CD117及DOG1的表达情况可作为预测GIST患者cKit/PDGFRA基因突变的指标。增强△CT值的变化对于MSCT诊断SDHB野生型GIST具有重要的指导意义。Objective To investigate the correlation between the mutations of c-Kit/PDGFRA gene and the dificiention of succinate dehydrogenase(SDHB)expression andclinicopathologic features in gastrointestinal stromal tumors(GIST)and the clinical value of MSCT imaging in the diagnosis of GIST molecules.Methods Clinical,pathological and imaging data of 172 GIST patients confirmed by surgery and pathology from January 2009 to October 2017 were collected.C-kit/PDGFRA gene mutation in these samples was detected by direct sequencing,and SDHB expression was detected by immunohistochemical staining in wild-type GIST.Results Compared with the wild typeGIST,c-kit/PDGFRA gene mutant GIST was more likely to occur in older patients,tumor necrosis and mitotic images were more visible,the risk level was higher,and the positive expression rates of CD34,CD117 and dog-1 were higher(P<0.05).SDHB deficient GIST showed less tumor necrosis and lower ki-67 proliferation index than wild-type GIST(P<0.05).The enhanced△CT values of SDHB deficient GIST were significantly higher than that of wild-typeGIST(P<0.05),but with no difference between c-kit/PDGFRA wild-type and mutant GIST in enhanced△CT values and between the two groups in plain scan△CT values(P>0.05).Conclusion The mutation of c-kit/PDGFRA gene andthe expression of SDHB in GIST have different clinical and pathological characteristics.Expression of CD34,CD117 and DOG1 can be used as indicators to predict ckit/PDGFRA gene mutation in GIST patients.The changes in enhanced CT values are important for the imaging diagnosis of SDHB wild-type GIST.

关 键 词：胃肠道间质瘤 C-KIT基因 PDGFRA基因 SDHB 多层螺旋CT(MSCT) 

分 类 号：R735.2[医药卫生—肿瘤] R735.3[医药卫生—临床医学]