title: Gastrointestinal stromal tumor with two genetic abnormalities on different alleles: report of a case.
abstract: We report a case of a gastrointestinal stromal tumor (GIST) with strong and faint KIT protein staining, respectively, at two different sites. A single point mutation (c1727 T>C) was detected in DNA extracted from both sites, and a further deletion mutation (c1678_1680 del GTT) was detected in DNA from the site with strong KIT protein staining. Cloning analysis indicated that the point mutation and the deletion were present on different alleles.
authors.affiliation: Department of Gastroenterological Surgery, Yokohama City University Postgraduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Ichikawa
authors.forename: Yohei
authors.initials: Y
authors.lastname: Miyagi
authors.forename: Shoichi
authors.initials: S
authors.lastname: Fujii
authors.forename: Mitsuyoshi
authors.initials: M
authors.lastname: Ota
authors.forename: Shigeru
authors.initials: S
authors.lastname: Yamagishi
authors.forename: Shingo
authors.initials: S
authors.lastname: Hasegawa
authors.forename: Shuuji
authors.initials: S
authors.lastname: Saito
authors.forename: Hideyuki
authors.initials: H
authors.lastname: Ike
authors.forename: Shigeo
authors.initials: S
authors.lastname: Ohki
authors.forename: Akira
authors.initials: A
authors.lastname: Nakano
authors.forename: Naomi
authors.initials: N
authors.lastname: Matsumura
authors.forename: Takashi
authors.initials: T
authors.lastname: Ishikawa
authors.forename: Chikara
authors.initials: C
authors.lastname: Kunizaki
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shimada
mesh_terms: D000368:Aged; D000483:Alleles; D005260:Female; D046152:Gastrointestinal Stromal Tumors / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007414:Intestinal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D007421:Intestine, Small; D009364:Neoplasm Recurrence, Local; D017354:Point Mutation; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D019009:Proto-Oncogene Proteins c-kit