Alimentary TractA novel gain-of-function mutation of c-kit gene in gastrointestinal stromal tumors☆,☆☆
Section snippets
Materials
A mesenchymal stomach tumor, obtained during a surgical procedure, was used for the examination. Normal gastric tissue near the tumor was used as a control.
Immunohistochemistry
A rabbit polyclonal antibody against the human KIT was purchased from IBL Co. (Fujioka, Japan). A rabbit polyclonal antibody against human S-100 protein and mouse monoclonal antibodies against human α–smooth muscle actin, vimentin, and desmin were purchased from DAKO (Glostrup, Denmark). A mouse monoclonal antibody against human CD34 antigen
Results
Immunohistochemistry was performed to show that the tumor was in fact a GIST. All tumor cells were positive for both KIT and CD34, which are the most reliable markers for GISTs (Figure 1A–C).
Discussion
Recently we found gain-of-function mutations of the c-kit gene in 5 of 6 GISTs examined.14 All mutations were located within the 11 amino acids (Lys-550 to Val-560) of the juxtamembrane domain.14 In the process of further investigation on whether gain-of-function mutations in GISTs were restricted in the above mentioned site, we found a novel deletion-type mutation at a codon 579 (Asp) in the juxtamembrane domain. In the present study, we show that the novel mutation also resulted in
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Address requests for reprints to: Koji Isozaki, M.D., Ph.D., Second Department of Internal Medicine, Osaka University Medical School, Yamadaoka 2-2, Suita, Osaka 565-0871, Japan. Fax: (81) 6-879-3739.
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Supported by grants from the Ministry of Education, Science, Culture and Sports of Japan.