Most GISTs arise in adults over 40 years of age [
6]. In the pediatric age group, GISTs occur in the sporadic form and in some cases are associated with Carney's triad or type 1 neurofibromatosis. Rare cases of familial GISts which carry a KIT or PDGFRa germline mutation have been also described [
7,
8]. The duodenal localization of a GIST in children is however exceptional. Cypriano and Coll. [
9] reported in 2004 a series of 7 pediatric patients affected by GIST: none of them originated from the duodenum. More recently, from a review of the English-language biomedical literature, Hayashi & Coll.[
10] found 25 children affected by GIST, none of them with a duodenal localization. Two further series of pediatric GISTs, each collecting five cases, failed to identify a duodenal localization [
11,
12]. So far, the only previously described pediatric patient with a duodenal GIST is by Towu and Coll. that reported in two papers the case of a 7-year-old boy: bleeding was the clinical presentation and the tumour was successfully resected [
13,
14]. Likewise in adults, duodenal GISTs in children may have an acute clinical onset, with bleeding as one of the most common complication. Endo-luminal bleeding is the expression of local invasion and erosion of the GI mucosa. For GISTs of the foregut, the identification of the source of bleeding may be easily performed by upper endoscopy whenever the tumor is located in the stomach or in the upper duodenum. On the other hand GISTs of the distal duodenum may remain undetected at endoscopy. Alternative diagnostic means for occult upper GI bleeding include duodenum series, US and computed tomography, video-capsule endoscopy, Tc99m scintigraphy and angiography. In the presented cases most of them resulted un-effective in making the diagnosis that was cleared only at surgery. Surgical removal of a duodenal GIST may be accomplished by several options, ranging from the minimal to outmost demolitive procedures. Local tumour excision [
15], segmental duodenal resection [
16‐
18] and pancreatoduodenectomy [
19‐
21] have all been advocated, depending on the site and the size of the tumour and on the surrounding organs invasion. Total tumour resection is the standard of cure for GISTs. Nodes dissection is not recommended, because GISTs rarely metastasize to lymph nodes [
22]. In eligible patients, total resection of a duodenal GIST can be achieved by a simple excision procedure, that is effective in controlling the bleeding and in achieving cure. Children may benefit of advantages from lesser demolitive duodenal surgery. Treatment with imatinib, an inhibitor of receptor tyrosine kinases (RTKs), may be offered to pediatric patients with advanced GIST disease, not radically amenable by surgery. Several papers have reported a correlation between the nature of molecular alterations of KIT and PDGFRα and response to imatinib treatment [
23‐
25]. In adults most GISTs are caused by mutations in the KIT or PDGFRα receptor tyrosine kinase genes and this make them amenable to therapy with imatinib. Thus, adult patients with unresectable or recurrent GIST have a better prognosis because the disease usually responds to therapy. In children genes mutations have been described in the rare cases of familial GISTs, but they do occur very rarely in sporadic GISTs [
11,
12,
26]. Because most pediatric GISTs have KIT/PDGFRα wildtype patterns, these patients are expected to respond to imatinib treatment less well than adults do.
Complete surgical resection of GISTs seems however more likely in pediatric rather than in adult patients. In a paper presenting a series of pediatric patients with GIST and collecting data from literature, the rate of complete surgical resection was 80% (18 out 23 patients) and more than 90% of these patients survived with no evidence of recurrence [
9]. In adults, complete surgical resection of GISTs has been reported in 40% of cases [
27]. Moreover the recurrence of GISTs in adults ranges from 40 to 80% despite complete surgical resection of the primary tumor [
22,
27]. These data suggest a more benign course for pediatric GISTs respect to adult cases.
According to the risk assessment criteria [
2], the GIST of the presented case fell in to the low-risk of aggressive behaviour category (tumour size < 5 cm and mitotic counts < 5 mitotic figures per 50 HPF) and no chemotherapy after surgery was offered. Miettinen & Coll. [
4] in a review of 156 duodenal GIST including adult and pediatric patients, found that 86% of those with a tumour > 5 cm with > 5 mitoses per 50 HPF died of disease, whereas no recurrence or metastases were seen in patients with tumour < 2 cm with < 5 mitoses/50 HPF. However, they occasionally observed the development of metastases even if the mitotic activity was < 5/50 HPF and the tumour size was < 5 cm. Thus, in young patients, even for the low-aggressive category of totally resected duodenal GISTs, the long-term outcome remains unpredictable. A long-term follow-up study is strongly advisable.