Therapy-refractory gastrointestinal motility disorder in a child with c-kit mutations

KIT gene mutations in gastrointestinal stromal tumor.

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract. It arises in the stomach, small intestine, colon, rectum and esophagus. KIT gene mutation is a feature of GIST, in addition to PDGFRA gene mutation. KIT gene mutations have been observed to be involved in the development of GIST, its recurrence after surgery and chemotherapy resistance in G...

Motesanib inhibits Kit mutations associated with gastrointestinal stromal tumors

BACKGROUND Activating mutations in Kit receptor tyrosine kinase or the related platelet-derived growth factor receptor (PDGFR) play an important role in the pathogenesis of gastrointestinal stromal tumors (GIST). METHODS This study investigated the activity of motesanib, an inhibitor of vascular endothelial growth factor receptors (VEGFR) 1, 2, and 3; PDGFR; and Kit, against primary activatin...

Mastocytosis in children is associated with mutations in c-KIT.

Frequent KIT Mutations in Human Gastrointestinal Stromal Tumors

Identifying gene mutations in individual tumors is critical to improve the efficacy of cancer therapy by matching targeted drugs to specific mutations. Gastrointestinal stromal tumors (GIST) are stromal or mesenchymal subepithelial neoplasms affecting the gastrointestinal tract and frequently contain activating gene mutations in either KIT or platelet-derived growth factor A (PDGFRA). Although ...

Imatinib mesylate treatment in a dog with gastrointestinal stromal tumors with a c-kit mutation

A 13-year-old spayed mixed-breed dog was diagnosed with a gastrointestinal stromal tumor (GIST) after histopathological examination of an abdominal mass. Five months after surgical resection of the tumor, we detected the recurrence of GIST with multiple disseminated abdominal lesions. A sequence analysis of cDNA obtained from a biopsy of the recurrent tumors revealed a mutation within exon 9 of...