title: Gastrointestinal stromal tumor with a novel mutation of KIT proto-oncogene.
abstract: The majority of human gastrointestinal mesenchymal tumors are gastrointestinal stromal tumors (GISTs). Recent reports have shown the existence of gain-of-function mutations in the juxta-membrane domain of receptor tyrosine kinase (KIT) in GISTs. We present a 77-year-old woman with GIST diagnosed by positive immunostaining of cluster designation (CD) 34 and KIT. This case had a novel mutation at codon 576 located in the juxta-membrane domain of KIT. Our results indicate the importance of mutations in this KIT region and suggest the possibility of the existence of other types of mutations in this region in GISTs.
authors.affiliation: 2nd Department of Internal Medicine, Shimane Medical University, Izumo, Shimane.
authors.forename: R
authors.initials: R
authors.lastname: Fukuda
authors.forename: N
authors.initials: N
authors.lastname: Hamamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Uchida
authors.forename: K
authors.initials: K
authors.lastname: Furuta
authors.forename: T
authors.initials: T
authors.lastname: Katsube
authors.forename: H
authors.initials: H
authors.lastname: Kazumori
authors.forename: S
authors.initials: S
authors.lastname: Ishihara
authors.forename: K
authors.initials: K
authors.lastname: Amano
authors.forename: K
authors.initials: K
authors.lastname: Adachi
authors.forename: M
authors.initials: M
authors.lastname: Watanabe
authors.forename: Y
authors.initials: Y
authors.lastname: Kinoshita
mesh_terms: D000368:Aged; D015703:Antigens, CD / Q000032:analysis; D018952:Antigens, CD34 / Q000032:analysis; D005260:Female; D006801:Humans; D017354:Point Mutation; D000090063:Proto-Oncogene Mas; D019009:Proto-Oncogene Proteins c-kit / Q000032:analysis / Q000235:genetics*; D011519:Proto-Oncogenes; D012509:Sarcoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D013274:Stomach Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D017154:Stromal Cells / Q000473:pathology
chemical_list: D015703:Antigens, CD; D018952:Antigens, CD34; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D019009:Proto-Oncogene Proteins c-kit