Gastrointestinal stromal tumors of the small intestine in pediatric populations: a case report and literature review

An 18-year-old girl presented with abdominal pain and a tumor was subsequently detected in the jejunum. We therefore carried out a wedge resection of the jejunum. The diagnosis of GIST was confirmed histologically, and a mutation in exon 9 of the c-kit gene was observed. GISTs are rare in pediatric populations and pediatric GISTs occur predominantly in females and are characterized by a multifocal gastric location and a wild-type phenotype for the c-kit genes. The features of pediatric GISTs of the small intestine have not yet been categorized, and to date, only 11 cases in patients younger than 18 years have been reported. These cases did not occur primarily in females and tended to present as single tumors with mutations in the c-kit gene. This suggests that these cases do not have the same features as pediatric gastric GISTs, but instead are similar to adult GISTs. In pediatric populations, GISTs of the small intestine were expected to show a better response to imatinib treatment than gastric GISTs because of the alterations in the c-kit gene.