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Ann R Coll Surg Engl. 2010 October; 92(7): e32–e34.
Published online 2010 October. doi:  10.1308/147870810X12822015504527
PMCID: PMC5697008

Gastrointestinal stromal tumour presenting with duodenal-jejunal intussusception: a case report

Abstract

Duodenal-jejunal intussusception is an extremely rare occurrence and has never been reported in the context of a gastrointestinal stromal tumour (GIST). We present the case of a duodenal GIST which presented with major intestinal haemorrhage in addition to duodenal-jejunal intussusception.

Keywords: GIST, Intussusception, Duodenum, Jejunum

Gastrointestinal stromal tumours (GISTs) are macroscopically smooth submucosal projections into the lumen of the gastrointestinal tract. They develop from the lining of the gastrointestinal tract and are thought to arise from pluripotential mesenchymal stem cells programmed to differentiate into the interstitial cell of Cajal.1 These act as pacemaker cells in the intestines. Gain-of-function mutations in exon 11 of the c-kit proto-oncogene are associated with most GISTs. This breakthrough was made in 19982 and has lead to developments in the understanding of the disease. This discovery and identification of the signal transduction pathway led to the development of the inhibitor Imatinib Mesylate (Glivec) in treatment.3 This revolutionised therapy allowing invasive disease to be treated successfully where previously surgery had been the only option.

The incidence has been reported as 10–20 per million although some studies have reported much higher rates at post-mortem examination. The majority of tumours are found incidentally on endoscopy or on computed tomography (CT) scanning which has developed as the primary investigation for diagnosis, providing information on the size, stage and pattern of tumour growth.4,5 Some 50–70% of GISTs have gastric origins whilst 20–30% have their origins in the small intestine.4 The tumours commonly have intraluminal and extraluminal elements. This gives rise to symptoms which can be vague initially. Mild abdominal pain and anaemia are common; however, as the tumour enlarges, satiety, dysphagia, weight loss and vomiting can occur. More serious complications are upper gastrointestinal haemorrhage (relatively common in gastric tumours) and complete obstruction of the gastrointestinal tract. Treatment involves surgery to remove the lesion and the use of Imatinib to target local and distal disease.

Case history

A 36-year-old woman was referred to gastroenterology outpatient clinic with a 2-year history of abdominal symptoms (diarrhoea, bloating), described as similar to irritable bowel syndrome. Her symptoms had recently changed to include weight loss, diarrhoea and lethargy and had been investigated with an OGD which had been reported as normal and an ultrasound which suggested a proximal bowel-related mass. Whilst undergoing investigations, she presented to the emergency department with collapse, meleana, hypotension (82/46 mmHg) and tachycardia (150 bpm). Her initial presenting Hb was 7.9; following resuscitation with fluids, this had dropped to 5.8. Blood transfusion was commenced and a CT scan with intravenous contrast was requested. This demonstrated a complex, large, cystic mass in the retroperitoneal region with areas of high attenuation on delayed sequences (Fig. 1). There was evidence of duodenojejunal intussusception and a dilated 6-mm pancreatic duct suggesting chronic proximal ductal obstruction.

Figure 1
Computed tomography in coronal section of the abdomen, demonstrating the lesion in the duodenum and proximal jejunum.

The scan was reviewed with the on-call consultant radiologist and surgeon. The mass which was present was thought to be dumb-bell shaped and most likely to represent a GIST. As a consequence of on-going haemodynamic instability with likely intraluminal tumour haemorrhage, the decision was taken to proceed to laparotomy.

Findings at surgery were a large dumb-bell shaped (Fig. 2) tumour of the second part of the duodenum which had intussuscepted and was part protruding into the proximal jejunum underneath the ligament of Treitz. The tumour had an intraluminal and extraluminal component. The mass was inseparable from the head of the pancreas. The pancreatic duct was dilated suggesting chronic obstruction from extrinsic pressure caused by the mass whilst the pancreas felt firm to the touch. There were marked areas of ulceration on the tumour with blood in the lumen of the duodenum and jejunum. The stomach contained no blood. The common bile duct was normal calibre. No liver lesions were noted.

Figure 2
Intra-operative picture demonstrating the dumb-bell shaped lesion: 1, intraluminal; 2, extraluminal.

Surgical resection required the operative team to carry out a pylorus-preserving pancreaticoduodenotomy. The patient was taken to the intensive care unit for on-going care and was extubated 6 h post procedure. The patient had an unremarkable postoperative recovery and was discharged home on day 10.

Histological examination of the specimen demonstrated a 150 mm gastrointestinal stromal tumour of a mixed spindle cell and epithelioid type, which stained positive for vimentin and CD117 but negative for CAM 5.2, S100, EMA, actin, desmin CK5/6 and calretinin. The tumour resection margins were all clear and there was no lymph node involvement.

Discussion

An extensive literature review did not reveal a case of a GIST tumour presenting as the focus for duodenal–jejunal intussusception and we believe this is the first report of such a case in the literature.

Complications of large gastric GISTs are that they can cause gastroduodenal intussusception (GDI).6,7 This has been reported due to GISTs from the stomach being passed through, or being caught in, the pylous-causing obstruction.

Reports have stated that some tumours have been pedunculated but this is not a necessity. A case of GDI has been reported involving the gastric mucosa causing intussusception and intestinal obstruction as a complication of Mentrier’s disease.8 Jejunal–jejunal/ileal intussusception has been reported by Mari et al.9 in 2006, where a GIST tumour 150 cm from the ligament of Treitz had intersusscepted into the distal small bowel causing obstruction. A similar report has been made by Kazuya et al.10 in 2004 where a GIST had created an obstruction in the transverse colon and required surgery for correction.

The retroperitoneal anatomical location of the duodenum means that it is an immobile structure; however, duodenal–jejunal intussusception has been reported in the literature as being an uncommon complication of benign and malignant conditions. Case reports and short series have been documented for duodenal duplication cysts11 and Brunner’s gland hamartomas.12 More sinister conditions have also acted as the naevus for the interssuscepting bowel and case reports for ampullary adenomas and carcinoid tumour causing ‘wandering’ of the ampulla of Vater are present in the literature.13,14

Jejunogastric/jejunal–duodenal intussusception or retrograde intussusception (invagination) is reported in the literature as an uncommon, but potentially devastating, complication of gastric surgery. Present hypotheses include hyperperistalsis triggered by spasm or hyperacidity; mechanical factors from adhesions, a long mesentery, gastric derangements and sudden increases in intra-abdominal pressure.14,15

This rare presentation required a multidisciplinary approach to formulate an appropriate diagnosis and carry out definitive treatment. The patient is well and has required no further therapy.

References

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Articles from Annals of The Royal College of Surgeons of England are provided here courtesy of The Royal College of Surgeons of England