Case ReportFamilial gastrointestinal stromal tumors associated with dysphagia and novel type germline mutation of KIT gene☆,☆☆
Section snippets
Case report
A 71-year-old Japanese man (case 4 in Figure 1) underwent an operation for a large abdominal tumor.Histologic diagnosis at that time was leiomyoma. He underwent another operation 1 year later for 2 submucosal tumors of
Materials and methods
The tumor tissues and the adjacent normal tissues were obtained during surgical procedures and were fixed in 10% formalin and embedded in paraffin. The sections (3 μm thick) were cut and used for H&E staining and for immunohistochemistry. Immunohistochemistry was performed as described previously.32 A rabbit polyclonal antibody against the human KIT was purchased from IBL Company (Fujioka, Gunma, Japan). A rabbit polyclonal antibody against human S-100 protein and mouse monoclonal antibodies
Immunohistochemistry
We examined whether the tumors resected from the proband (case 4) and his sister (case 7) were GISTs. Immunohistochemistry showed that the tumor cells were positive for both KIT and CD34 (Figure 2A and B) and negative for desmin, α–smooth muscle actin, and S-100 protein, indicating that the tumors were GISTs.
Discussion
A family with multiple GISTs, new-type germline mutation of KIT gene, and dysphagia was described. To our knowledge, this is the sixth reported case of familial GISTs. In all families, germline mutation of KIT gene has been found. In 4 of 6 families, the mutation was observed in the juxtamembrane domain (Table 1).27, 28, 30, 31In a family in France, the mutation was detected in the TK I domain (Table 1).29 In the present family, the KIT mutation was identified in the TK II domain; Asp-820
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Address requests for reprints to: Toshirou Nishida, M.D., Department of Surgery, Osaka University Medical School, Yamadaoka 2-2, Suita, Osaka 565-0871, Japan. e-mail: [email protected]; fax: (81) 6-879-3159.
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Supported by grants from the Ministry of Education, Science, Culture and Sports of Japan and from the Sumitomo Foundation.