Specific mutation in exon 11 of c- kit proto-oncogene in a malignant gastrointestinal stromal tumor of the rectum

Autor: Tadashi Matsumoto, Yutaka Endo, Masahiko Yamaguchi, Akihiko Matsumiya, Michiko Miyaki, Kaoru Kumada, Yutaka Sanada, M Kuzume, Takeshi Iijima
Rok vydání: 2000
Předmět:
Zdroj: Journal of Gastroenterology. 35:779-783
ISSN: 1435-5922
0944-1174
DOI: 10.1007/s005350070038
Popis: Gastrointestinal stromal tumor (GIST) in the distal third of the rectum was detected in a 57-year-old man who underwent an abdominoperineal resection of the rectum. Because the tumor expressed CD34 and c-kit gene product, but did not express smooth muscle actin or S-100 protein, it was diagnosed as an uncommitted type of GIST. Moreover, a specific mutation in the sequence coding the juxtamembrane domain in exon 11 of the c-kit proto-oncogene was revealed by a polymerase chain reaction-single-strand conformation polymorphism method. One year after resection, the patient developed multiple liver metastases. It is suggested that a specific mutation in exon 11 of the c-kit proto-oncogene may have played an essential role in the development of the liver metastases.
Databáze: OpenAIRE