Background: Gastrointestinal stromal tumours (GISTs) are uncommon primary mesenchymal tumours of the gastrointestinal tract mostly observed in the adults. Duodenal GISTs are relatively rare in adults and it should be regarded as exceptional in childhood. In young patients duodenal GISTs may be a source of potentially lethal haemorrhage and this adds diagnostic and therapeutic dilemmas to the concern about the long-term outcome. Case presentation: A 14-year-old boy was referred to our hospital with severe anaemia due to recurrent episodes of upper gastrointestinal haemorrhage. Endoscopy, small bowel series, scintigraphy and video capsule endoscopy previously done elsewhere were negative. Shortly after the admission, the patient underwent emergency surgery for severe recurrence of the bleeding. At surgery, a 4 cm solid mass arising from the wall of the fourth portion of the duodenum was identified. The invasion and the erosion of the duodenal mucosa was confirmed by intra-operative pushed duodenoscopy. The mass was resected by a full-thickness duodenal wall excision with adequate grossly free margins. Immunohistochemical analysis of the specimen revealed to be positive for CD117 (c-KIT protein) consistent with a diagnosis of GIST. The number of mitoses was < 5/50 HPF. Mutational analysis for c-KIT/PDGFRA tyrosine kinase receptor genes resulted in a wildtype pattern. The patient had an uneventful course and he has remained disease-free during two years of follow-up. Conclusion: Duodenal GISTs in children are very rare and may present with massive bleeding. Cure can be achieved by complete surgical resection, but even in the low-aggressive tumours the long-term outcome may be unpredictable.
Gastrointestinal stromal tumour of the duodenum in childhood: a rare case report
CHIARUGI, MASSIMO;ZOCCO, GIUSEPPE;SECCIA, MASSIMO
2007-01-01
Abstract
Background: Gastrointestinal stromal tumours (GISTs) are uncommon primary mesenchymal tumours of the gastrointestinal tract mostly observed in the adults. Duodenal GISTs are relatively rare in adults and it should be regarded as exceptional in childhood. In young patients duodenal GISTs may be a source of potentially lethal haemorrhage and this adds diagnostic and therapeutic dilemmas to the concern about the long-term outcome. Case presentation: A 14-year-old boy was referred to our hospital with severe anaemia due to recurrent episodes of upper gastrointestinal haemorrhage. Endoscopy, small bowel series, scintigraphy and video capsule endoscopy previously done elsewhere were negative. Shortly after the admission, the patient underwent emergency surgery for severe recurrence of the bleeding. At surgery, a 4 cm solid mass arising from the wall of the fourth portion of the duodenum was identified. The invasion and the erosion of the duodenal mucosa was confirmed by intra-operative pushed duodenoscopy. The mass was resected by a full-thickness duodenal wall excision with adequate grossly free margins. Immunohistochemical analysis of the specimen revealed to be positive for CD117 (c-KIT protein) consistent with a diagnosis of GIST. The number of mitoses was < 5/50 HPF. Mutational analysis for c-KIT/PDGFRA tyrosine kinase receptor genes resulted in a wildtype pattern. The patient had an uneventful course and he has remained disease-free during two years of follow-up. Conclusion: Duodenal GISTs in children are very rare and may present with massive bleeding. Cure can be achieved by complete surgical resection, but even in the low-aggressive tumours the long-term outcome may be unpredictable.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
