贵州医科大学学报

2002, (03) 192-195+199

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胃肠道间质肿瘤中c-kit基因失常的检测
Detection of the Abnormality of c-kit Gene in Gastrointestinal Stromal Tumors

成元华,杨光华,郭立新,彭惠
CHENG Yuan hua 1, YANG Guang hua 2, GUO Li xin 2 , PENG Hui 2 (1.Department of Pathology,Guiyang Medical College , Guiyang 550004, China 2.Department of Pathology, Huaxi Hospital, Sichuan University, Chengdu 610041, China)

摘要(Abstract):

目的 :检测胃肠道间质肿瘤 (GIST)中c kit基因第 9,11和 13外显子 (exon)的突变状态 ,并分析其与临床病理特点之间的关系。方法 :应用PCR分别扩增 5 4例GIST(其中良性 9例 ,中间性 2 6例 ,恶性 19例 )c kit基因exon 9,11和 13,用聚合酶链反应 单链构象多态性 (PCR SSCP)对PCR产物进行突变筛查 ,对SSCP分析有异常的标本进行PCR产物直接测序 ;并将c kit基因突变状态与GIST临床病理特点之间的关系进行统计学分析。结果 :5 4例GIST中 14例 (2 6 % )c kit基因exon 11SSCP分析电泳行为异常 ,其中良性 4例、中间性 4例和恶性 6例 ;随机抽取其中 5例PCR产物直接测序证实 ,3例为exon 11框内缺失一个C ,另 2例为与exon 11相连的第 10内含子区插入一个T。exon 9和 13未见异常。GIST病例c kit基因exon 11突变者与无突变者的平均年龄、肿瘤大小、核分裂像多少、肿瘤内出血坏死及c kit基因蛋白产物 (CD117)和CD34的表达情况相比差异均无显著性 (P >0 .0 5 )。结论 :c kit基因exon 11突变参与了部分GIST的发生。
Objective:To detect the status of exons 9, 11 and 13 of c kit gene in human gastrointestinal stromal tumors (GIST) and analyze the relationship between the status of c kit gene and the clinicopathologic features of GIST. Methods: Polymerase chain reaction (PCR) was used to amplify exons 9, 11 and 13 of c kit gene in 54 GIST cases including 9 benign, 26 intermediate and 19 malignant cases. Mutation of c kit gene was screened with single strand conformation polymorphism (SSCP) analysis,and the abnormal PCR products were sequenced directly. The relationship between the status of c kit gene and the clinicopathologic features of GIST was analyzed statistically. Results:Of these 54 GIST cases studied , 14(26%) showed abnormality of exon 11. The 14 aberrant GIST cases included 4 benign, 4 intermediate and 6 malignant.PCR product sequencing of 5 cases randomly selected from the 14 mutant GISTs revealed that 3 cases had deletion of single nucleotide (C) in exon 11 and 2 had single nucleotide (T) insertion in intron 10. No abnormality in exon 9 or exon 13 was found. The mean age, the size of tumor, mitotic count, haemorrhage and necrosis in tumor, as well as the expression of c kit gene protein product(CD117) and CD34 in the groups of the mutation positive and the mutation negative had no significant difference (P>0.05). Conclusion: The mutations in exon 11 of c kit gene may contribute partly to the development of GIST.

关键词(KeyWords): 胃肠肿瘤;突变;聚合酶链反应;胃肠道间质肿瘤;基因,ckit
gastrointestinal neoplasms; mutation; polymerase chain reaction; gastrointestinal stromal tumors; genes,c kit

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作者(Author): 成元华,杨光华,郭立新,彭惠
CHENG Yuan hua 1, YANG Guang hua 2, GUO Li xin 2 , PENG Hui 2 (1.Department of Pathology,Guiyang Medical College , Guiyang 550004, China 2.Department of Pathology, Huaxi Hospital, Sichuan University, Chengdu 610041, China)

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DOI: 10.19367/j.cnki.1000-2707.2002.03.002

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