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.
MeSH terms
-
Aged
-
Antineoplastic Agents / administration & dosage*
-
Benzamides / administration & dosage*
-
Dose-Response Relationship, Drug
-
Exons / drug effects
-
Exons / genetics
-
Female
-
Gastrointestinal Neoplasms / drug therapy*
-
Gastrointestinal Neoplasms / genetics
-
Gastrointestinal Neoplasms / pathology
-
Gastrointestinal Stromal Tumors / drug therapy*
-
Gastrointestinal Stromal Tumors / genetics
-
Gastrointestinal Stromal Tumors / pathology
-
Germ-Line Mutation / drug effects*
-
Humans
-
Imatinib Mesylate
-
Male
-
Middle Aged
-
Pedigree
-
Piperazines / administration & dosage*
-
Proto-Oncogene Proteins c-kit / genetics*
-
Pyrimidines / administration & dosage*
-
Siblings
Substances
-
Antineoplastic Agents
-
Benzamides
-
Piperazines
-
Pyrimidines
-
Imatinib Mesylate
-
Proto-Oncogene Proteins c-kit