title: Familial and multiple gastrointestinal stromal tumors with fair response to a half-dose of imatinib.
abstract: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. Since our first report in 1998, approximately 30 families with multiple GISTs due to a germline gain-of-function mutation of c-kit have been reported. We herein present a case of a family with multiple GISTs that have a germline c-kit mutation in exon 11 (Del-Val560) in two siblings. One of the patients showed a fair response to treatment with a half-dose of imatinib (200 mg/day). There are few reports describing the response to imatinib in familial GISTs and this drug appears to be a promising therapeutic option.
authors.affiliation: Division of Gastroenterology, Shiga University of Medical Science, Japan.
authors.forename: Shigeki
authors.initials: S
authors.lastname: Bamba
authors.forename: Seiichi
authors.initials: S
authors.lastname: Hirota
authors.forename: Osamu
authors.initials: O
authors.lastname: Inatomi
authors.forename: Hiromitsu
authors.initials: H
authors.lastname: Ban
authors.forename: Takashi
authors.initials: T
authors.lastname: Nishimura
authors.forename: Makoto
authors.initials: M
authors.lastname: Shioya
authors.forename: Hirotsugu
authors.initials: H
authors.lastname: Imaeda
authors.forename: Atsushi
authors.initials: A
authors.lastname: Nishida
authors.forename: Masaya
authors.initials: M
authors.lastname: Sasaki
authors.forename: Satoshi
authors.initials: S
authors.lastname: Murata
authors.forename: Akira
authors.initials: A
authors.lastname: Andoh
mesh_terms: D000368:Aged; D000970:Antineoplastic Agents / Q000008:administration & dosage*; D001549:Benzamides / Q000008:administration & dosage*; D004305:Dose-Response Relationship, Drug; D005091:Exons / Q000187:drug effects / Q000235:genetics; D005260:Female; D005770:Gastrointestinal Neoplasms / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D046152:Gastrointestinal Stromal Tumors / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D018095:Germ-Line Mutation / Q000187:drug effects*; D006801:Humans; D000068877:Imatinib Mesylate; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010879:Piperazines / Q000008:administration & dosage*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D011743:Pyrimidines / Q000008:administration & dosage*; D035781:Siblings
chemical_list: D000970:Antineoplastic Agents; D001549:Benzamides; D010879:Piperazines; D011743:Pyrimidines; D000068877:Imatinib Mesylate; D019009:Proto-Oncogene Proteins c-kit