Imatinib in the Management of Multiple Gastrointestinal Stromal Tumors Associated With a Germline

● Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gut and are distin-guished by expression of CD117 (c-Kit). Oncogenic mu-tations in the KIT or PDGFRA gene are detected in ap-proximately 85 % of sporadic GISTs. In recent years, ex-amples of familial GIST have been reported in which germ-line mutations of KIT or PDGFRA result in multiple GISTs, skin disorders, and other abnormalities. The most common germline mutations are in KIT exon 11, mutations in exons 8 and 17 have also been described, and there are 2 families with germline PDGFRA mutations. We present a case in which a germline KIT exon 13 mutation (K642E) was dis-covered in a patient with multiple GISTs of rectum, small intestine, and esophagus, as well as diffuse hyperplasia of the interstitial cells of Cajal. To our knowledge, this is onl