Familial gastrointestinal stromal tumor(GIST)is a rare autosomal dominant disorder associated with mutations in the KIT gene in the majority of cases.Although,exon 11 appears to be the hot spot region for approximatel...Familial gastrointestinal stromal tumor(GIST)is a rare autosomal dominant disorder associated with mutations in the KIT gene in the majority of cases.Although,exon 11 appears to be the hot spot region for approximately 95%of germline mutations,pathogenic variations have also been identified in exon 8,13 and 17.Exon 13 germline mutations are extremely rare amongst familial GISTs and seven families with a germline mutation have been reported to date.Moreover,the role of imatinib mesylate in this rare familiar settings is not completely known so far.We describe here clinical,imaging,pathological and genetic findings of a family with four affected members;grandmother,his son and two grand-sons having a germline gain-of-function mutation of KIT in exon 13 and discuss the imatinib mesylate treatment surveillance outcomes towards disease management.展开更多
文摘Familial gastrointestinal stromal tumor(GIST)is a rare autosomal dominant disorder associated with mutations in the KIT gene in the majority of cases.Although,exon 11 appears to be the hot spot region for approximately 95%of germline mutations,pathogenic variations have also been identified in exon 8,13 and 17.Exon 13 germline mutations are extremely rare amongst familial GISTs and seven families with a germline mutation have been reported to date.Moreover,the role of imatinib mesylate in this rare familiar settings is not completely known so far.We describe here clinical,imaging,pathological and genetic findings of a family with four affected members;grandmother,his son and two grand-sons having a germline gain-of-function mutation of KIT in exon 13 and discuss the imatinib mesylate treatment surveillance outcomes towards disease management.
