胃肠道间质瘤患者c-kit和PDGFRA基因突变与临床、病理特征的关系  

Relationship of c-kit and PDGFRA gene mutations with clinical and pathological features in patients with gastrointestinal stromal tumor

作　　者：王雨纯 李秀明 刘蔚[1] WANG Yuchun;LI Xiuming;LIU Wei(Department of Pathology,First Affiliated hospital,Soochow University,Suzhou 215006,CHINA)

机构地区：[1]苏州大学附属第一医院病理科,江苏215006

出　　处：《江苏医药》2023年第6期560-563,共4页Jiangsu Medical Journal

基　　金：国家自然科学基金青年科学基金(82002520);江苏省自然科学基金青年基金(BK20200205)。

摘　　要：目的分析胃肠道间质瘤(GIST)患者c-kit和血小板源性生长因子受体A(PDGFRA)基因突变与临床、病理特征的关系。方法使用基因检测试剂盒检测94例GIST患者c-kit基因的9、11、13、17号外显子和PDGFRA基因的12、18号外显子,采用测序分析软件Chromas对结果进行基因突变分析,收集患者临床、病理特征资料,分析基因突变与临床、病理特征的关系。结果94例GIST患者中83例发生基因突变;其中,c-kit基因突变76例,PDGFRA基因突变7例。不同核分裂象的GIST患者基因突变比例比较有统计学差异(P<0.05)。不同原发部位的c-kit基因9、11、13号外显子突变例数比较有统计学差异(P<0.05)。49例原发于胃部的GIST患者间质黏液变性比例高于39例原发于非胃部的GIST患者(59.2%vs.17.9%)(P<0.01)。结论GIST患者c-kit和PDGFRA基因突变具有多样性,突变类型与临床、病理特征存在关联,间质黏液变性多见于原发于胃部的GIST患者。Objective To analyze the relationship of c-kit and platelet-derived growth factor receptor A(PDGFRA)gene mutations with clinical and pathological features in the patients with gastrointestinal stromal tumor(GIST).Methods Exons 9,11,13 and 17 of c-kit gene and exons 12 and 18 of PDGFRA gene were detected with gene testing kit in 94 GIST patients.The sequencing analysis software Chromas was used to analyze the gene mutation results.Clinical and pathological features of GIST patients were collected,and the relationship between the gene mutations and clinical and pathological features was analyzed.Results Among 94 GIST patients,83 patients had gene mutations,including 76 cases of c-kit gene mutations and 7 cases of PDGFRA gene mutations.There were statistically significant differences in the proportion of GIST patients with gene mutations in different mitotic images(P<0.05).The number of c-kit gene exon 9,11 and 13 mutations at different primary sites was statistically different(P<0.05).The proportion of interstitial mucous degeneration in 49 GIST patients with gastric origin was higher than that in 39 GIST patients with non-gastric origin(59.2%vs.17.9%)(P<0.01).Conclusion Gene mutations of c-kit and PDGFRA are diverse in the patients with GIST,and the types of mutations are associated with clinical and pathological features.Interstitial mucous degeneration is more common in GIST patients with gastric origin.

关 键 词：胃肠道间质瘤 C-KIT 血小板源性生长因子受体A 

分 类 号：R735[医药卫生—肿瘤]