胃肠道间质瘤组织中PDGFRα和C-kit基因突变和蛋白表达的关系
胃肠道间质瘤;血小板源性生长因子受体α;C-kit;基因突变;蛋白印迹;单链构象多态性,王彦丽,赵向荣,白辰光,杨蕾,马大烈,王彦丽,通讯作者:,RelationshipofPlatelet-derivedgrowthfacto
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王彦丽, 赵向荣, 白辰光, 杨蕾, 马大烈, 中国人民解放军第二军医大学附属长海医院病理科 上海市 200433
王彦丽, 2006年第二军医大学毕业, 硕士, 主要从事肿瘤分子病理的研究.
国家自然科学基金资助项目, No. 30471702
通讯作者: 马大烈, 200433, 上海市, 中国人民解放军第二军医大学附属长海医院病理科. drwyl@126.com
收稿日期: 2007-03-23 修回日期: 2007-07-16
Relationship of Platelet-derived growth factor receptor α and C-kit gene mutations and expression in gastrointestinal stromal tumors
Yan-Li Wang, Xiang-Rong Zhao, Chen-Guang Bai, Lei Yang, Da-Lie Ma
Yan-Li Wang, Xiang-Rong Zhao, Chen-Guang Bai, Lei Yang, Da-Lie Ma, Department of Pathology, the Affiliated Changhai Hospital of the Second Military Medical University, Shanghai 200433, China
Supported by: National Natural Science Foundation of China, No. 30471702
Correspondence to: Dr. Da-Lie Ma, Department of Pathology, the Affiliated Changhai Hospital of the Second Military Medical University, Shanghai 200433, China. drwyl@126.com
Received: 2007-03-23 Revised: 2007-07-16
Abstract
AIM: To detect platelet-derived growth factor receptor α (PDGFRα) and C-kit gene mutations and protein expression, and to discuss the relationship between the two genes. In addition, to discuss the important role of the PDGFRα mutation in the tumorigenesis of gastrointestinal stromal tumors (GISTs).
METHODS: PDGFRα and C-kit gene mutations and protein expression in 52 cases of GIST were detected by polymerase chain reaction single-strand conformation polymorphism, immunohistochemistry and Western blotting.
RESULTS: PDGFRα gene mutations were detected in five cases (9.6%) among the 52 GISTs. Most had spindle histology and were of gastric origin. The C-kit mutation was found in 28 cases (53.8%). Most were small intestinal origin; tumors with C-kit mutation were not examined for PDGFRα mutation. The rate of PDGFRα protein expression was 100%. In five cases of GIST with PDGFRα gene mutations, the corresponding protein expression was higher than that in cases with C-kit gene mutations, or in normal GI tissues and schwannomas ......
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