Gastrointestinal stromal tumor with a novel mutation of KIT proto-oncogene

被引：12

作者：

Fukuda, R ^{[1
]}

Hamamoto, N ^{[1
]}

Uchida, Y ^{[1
]}

Furuta, K ^{[1
]}

Katsube, T ^{[1
]}

Kazumori, H ^{[1
]}

Ishihara, S ^{[1
]}

Amano, K ^{[1
]}

Adachi, K ^{[1
]}

Watanabe, M ^{[1
]}

Kinoshita, Y ^{[1
]}

机构：

[1] Shimane Med Univ, Dept Internal Med 2, Izumo, Shimane 6938501, Japan

来源：

INTERNAL MEDICINE | 2001年 / 40卷 / 04期

关键词：

CD34; interstitial cells of Cajal; direct sequencing;

D O I：

10.2169/internalmedicine.40.301

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The majority of human gastrointestinal mesenchymal tumors are gastrointestinal stromal tumors (GISTs). Recent reports have shown the existence of gain-of-function mutations in the juxta-membrane domain of receptor tyrosine kinase (KIT) in GISTs. We present a 77-year-old woman with GIST diagnosed by positive immunostaining of cluster designation (CD) 34 and KIT. This case had a novel mutation at codon 576 located in the juxta-membrane domain of KIT. Our results indicate the importance of mutations in this KIT region and suggest the possibility of the existence of other types of mutations in this region in GISTs.

引用

页码：301 / 303

页数：3

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