title: A case for gastrointestinal stromal tumor (GIST) with reference to its ultrastructure and 'gain-of-function' mutation.
abstract: A case for primary gastrointestinal stromal tumor (GIST) is described with reference to its ultrastructural characteristics and mutation within the exon 11 of c-kit gene. A forty-seven years old woman complaining of dysphasia was examined by endoscopy, which depicted a submucosal tumor (70 mm in diameter) with ulcerations at the fundus of the stomach. Histopathologically, the tumor cells had large nuclei and eosinophilic cytoplasm and were frequently during mitosis phase. The tumor cells were immunopositive for KIT, CD 34 and vimentin, suggesting their fibroblast-like characteristics. In contrast, desmin and S-100, a smooth muscle and an enteroglial marker, were not immunopositive within the cells. At least 30 % of the tumor cells possessed MIB-I and 20 % of them possessed p53, which are compatible with fast development of the tumor. By electron microscopy, the tumor cells possessed large oval nuclei, abundant mitochondria, caveolae and smooth endoplasmic reticulums, while no gap junctions were seen on the cells: The tumor cells thus possessed interstitial cells-like characteristics at least in part. DNA mutation search for the tumor cells however realized no gain-of-function mutation within the exon 11 of the c-kit gene, suggesting existence of other mechanism for neoplasmic growth of the tumor cells classified as gastrointestinal stromal tumors.
authors.affiliation: Department of Medicine, Tokai University School of Medicine, Bouseidai, Isehara, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Sakuma
authors.forename: Ichiro
authors.initials: I
authors.lastname: Takayama
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Zai
authors.forename: Yasutomo
authors.initials: Y
authors.lastname: Sekido
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kijima
authors.forename: Kyoji
authors.initials: K
authors.lastname: Ogoshi
authors.forename: Hiroyasu
authors.initials: H
authors.lastname: Makuuchi
authors.forename: Takayuki
authors.initials: T
authors.lastname: Shirai
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Mine
mesh_terms: D004247:DNA; D016145:Endoscopy, Digestive System; D005091:Exons; D005260:Female; D005748:Gastric Fundus / Q000473:pathology; D005770:Gastrointestinal Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000648:ultrastructure*; D006801:Humans; D008854:Microscopy, Electron; D008875:Middle Aged; D009154:Mutation; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D011859:Radiography; D017154:Stromal Cells / Q000473:pathology*
chemical_list: D004247:DNA; D019009:Proto-Oncogene Proteins c-kit