Gastrointestinal Stromal Tumor with a Novel Mutation of KIT Proto-oncogene

Ryo FUKUDA; Naoharu HAMAMOTO; Yasushi UCHIDA; Kohichiro FURUTA; Tomoko KATSUBE; Hideaki KAZUMORI; Shunji ISHIHARA; Kazutoshi AMANO; Kyoichi ADACHI; Makoto WATANABE; Yoshikazu KINOSHITA

doi:10.2169/internalmedicine.40.301

Ryo FUKUDA, Naoharu HAMAMOTO, Yasushi UCHIDA, Kohichiro FURUTA, Tomoko KATSUBE, Hideaki KAZUMORI, Shunji ISHIHARA, Kazutoshi AMANO, Kyoichi ADACHI, Makoto WATANABE, Yoshikazu KINOSHITA

Author information

Ryo FUKUDA
the 2nd Department of Internal Medicine, Shimane Medical University
Naoharu HAMAMOTO
the 2nd Department of Internal Medicine, Shimane Medical University
Yasushi UCHIDA
the 2nd Department of Internal Medicine, Shimane Medical University
Kohichiro FURUTA
the 2nd Department of Internal Medicine, Shimane Medical University
Tomoko KATSUBE
the 2nd Department of Internal Medicine, Shimane Medical University
Hideaki KAZUMORI
the 2nd Department of Internal Medicine, Shimane Medical University
Shunji ISHIHARA
the 2nd Department of Internal Medicine, Shimane Medical University
Kazutoshi AMANO
the 2nd Department of Internal Medicine, Shimane Medical University
Kyoichi ADACHI
the 2nd Department of Internal Medicine, Shimane Medical University
Makoto WATANABE
the 2nd Department of Internal Medicine, Shimane Medical University
Yoshikazu KINOSHITA
the 2nd Department of Internal Medicine, Shimane Medical University

Keywords: CD34, interstitial cells of Cajal, direct sequencing

JOURNAL FREE ACCESS

2001 Volume 40 Issue 4 Pages 301-303

DOI https://doi.org/10.2169/internalmedicine.40.301

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Abstract

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.
(Internal Medicine 40: 301-303, 2001)

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