Abstract

Gastrointestinal stromal tumours (GISTs) are uncommon primary mesenchymal tumors of the gastrointestinal tract mostly observed in the adults. Small intestinal GISTs are relatively rare in adults and it should be regarded as exceptional in childhood. Most GISTs arise because of a mutation in a gene called c-kit. This gene encodes a transmembrane receptor for a growth factor termed stem cell factor. They are typically defined as a tumor whose behavior is driven by mutations in the Kit gene or PDGFRA gene, and may or may not stain positively for Kit.

An 11-month-old girl was referred to our hospital with vomiting. A small bowel mass was determined by radiological examination and the patient underwent surgery. At surgery, a 2 cm solid mass arising from the wall of the jejunum was identified. Immunohistochemical analysis of the specimen revealed to be positive for CD117 (c-KIT protein) consistent with a diagnosis of GIST. Forty two months later, a recurrent mass was developed on the omentum. The secondary mass revealed similar features with first tumor. The treatment with imatinib was started following surgical resection of the second tumor. After second surgery, the patient had an uneventful course and he has remained disease-free during seven years of follow-up.