title: Specific mutation in exon 11 of c-kit proto-oncogene in a malignant gastrointestinal stromal tumor of the rectum.
abstract: 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.
authors.affiliation: Department of Surgery, Showa University Fujigaoka Hospital, Yokohama, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Yamaguchi
authors.forename: M
authors.initials: M
authors.lastname: Miyaki
authors.forename: T
authors.initials: T
authors.lastname: Iijima
authors.forename: T
authors.initials: T
authors.lastname: Matsumoto
authors.forename: M
authors.initials: M
authors.lastname: Kuzume
authors.forename: A
authors.initials: A
authors.lastname: Matsumiya
authors.forename: Y
authors.initials: Y
authors.lastname: Endo
authors.forename: Y
authors.initials: Y
authors.lastname: Sanada
authors.forename: K
authors.initials: K
authors.lastname: Kumada
mesh_terms: D005091:Exons / Q000235:genetics*; D006801:Humans; D008113:Liver Neoplasms / Q000556:secondary; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000090063:Proto-Oncogene Mas; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D011519:Proto-Oncogenes / Q000235:genetics*; D012004:Rectal Neoplasms / Q000235:genetics*
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D019009:Proto-Oncogene Proteins c-kit