胃肠道间质瘤中c-kit基因的表达与突变

[Expression and mutation of c-kit gene in gastrointestinal stromal tumor].

作者信息

Ma Dalie, Liu Xiaohong, Cai Zailong, Xie Qiang

机构信息

Department of Pathology, Changhai Hospital, Second Military Medical University, Shanghai 200433, China.

出版信息

Zhonghua Zhong Liu Za Zhi. 2002 Sep;24(5):461-4.

PMID:12485499

Abstract

OBJECTIVE

To investigate the effect of the expression and mutation of c-kit gene and its relationship with clinical pathology and prognosis of gastrointestinal stromal tumor (GIST).

METHODS

Immunohistochemical and PCR-SSCP techniques were used to detect c-kit protein expression and c-kit gene exon 11 mutation in 82 patients with GIST.

RESULTS

The positive c-kit protein expression and c-kit gene mutation rates were 97.6% (80/82) and 41.5% (34/82). Correlating the results of these two methods and clinicopathological factors, the c-kit expression and c-kit gene mutation rates were 95.0% (19/20) and 0 in benign GIST, and were 98.4% (61/62), 54.8% (34/62) in malignant GIST. Mutation positive GIST showed higher frequency of adjacent tissue invasion, metastasis and recurrence as compared with mutation negative ones.

CONCLUSION

c-kit protein is an important diagnostic marker of gastrointestinal stromal tumor. c-kit gene mutation may play a significant role in the pathogenesis of GIST and also may be a prognostic marker.

摘要

目的

探讨c-kit基因的表达及突变对胃肠道间质瘤（GIST）临床病理及预后的影响及其相互关系。

方法

采用免疫组织化学及PCR-SSCP技术检测82例GIST患者c-kit蛋白表达及c-kit基因第11外显子突变情况。

结果

c-kit蛋白阳性表达率为97.6%（80/82），c-kit基因突变率为41.5%（34/82）。将两种方法的结果与临床病理因素进行相关性分析，良性GIST中c-kit表达率为95.0%（19/20），c-kit基因突变率为0；恶性GIST中c-kit表达率为98.4%（61/62），c-kit基因突变率为54.8%（34/62）。与c-kit基因突变阴性的GIST相比，突变阳性的GIST在邻近组织侵犯、转移及复发方面的频率更高。