We present a rare case of gastrogastric intussusception due to gastrointestinal stromal tumor (GIST) and the largest comprehensive literature review of published case reports on gastrointestinal (GI) intussusception due to GIST in the past three decades. We found that the common presenting symptoms were features of gastrointestinal obstruction and melena. We highlight the diagnostic challenges faced in low-resource countries. Our findings emphasize the importance of early clinical diagnosis in low-resource settings in order to guide timely management. In addition, histological analysis of the tumor for macroscopic and microscopic characteristics including mitotic index and c-Kit/CD117 status should be obtained to guide adjuvant therapy with imatinib mesylate. Periodic follow-up to access tumor recurrence is fundamental and should be the standard of care.
Intussusception is the telescoping or invagination of the proximal part of the gastrointestinal tract (intussusceptum) into an adjacent section (intussuscipiens). Intussusception mostly occurs in childhood and is rare in adults with the incidence of approximately 2-3 per 1,000,000 per year, causing only 1% of all bowel obstruction in adults [
Furthermore, unlike intussusception in children where approximately 90% of cases are idiopathic, approximately 70%–90% of cases of adult intussusception are secondary to an underlying pathology, with 65% being due to benign or malignant neoplasms including GIST [
GISTs are mesenchymal tumors found in the GI tract possessing a range of malignant potential. They originate from neoplastic transformation of the interstitial cells of Cajal [
We present a rare case of gastrogastric intussusception due to GIST and a literature review of published studies on GI intussusception due to GIST. Searches were performed in the PubMed Central and Google Scholar databases. Keywords used were gastrointestinal stromal tumor, adult intussusception and intussusception caused by gastrointestinal stromal tumor, and GIST presenting as intussusception. The citations received via Google Scholar and PubMed Central were each further examined to determine if they satisfy the inclusion criteria. The database search included all articles from 1983 to February 2018. We extracted the following clinical characteristics: publication year, country of origin, patient age, sex, clinical history, duration of complaint, presence of palpable mass, imaging tools, surgical approach, tumor location, tumor size (largest dimension), CD117 expression, tumor mitotic index, length of follow-up after surgery, and recurrence status. If pertinent information was missing, corresponding authors were contacted with a list of variables to provide. We excluded articles of adult intussusception due to GIST that failed to report immunohistochemical staining of CD117 to confirm GIST.
An 85-year-old Ghanaian female patient presented to our emergency department referred from a district hospital in Ghana with a 1-day history of melena associated with epigastric pain following food ingestion, dyspepsia, dizziness, and palpitations. The patient denied any history of hematemesis associated with this pain. The reason for referral from the district hospital was for a blood transfusion due to severe anemia. Prior to this, she also had a 14-day history of postprandial nausea and nonbloody vomiting. Physical examination revealed severe conjunctival pallor and melenic stool on digital rectal examination with a blood pressure = 110/70 mmHg, heart rate = 114 beats per minute, and afebrile temperature = 36.1°C. There was no abdominal tenderness or distention and no palpable abdominal mass on physical exam. Laboratory investigations showed macrocytic anemia (hemoglobin, 4.4 g/dL (normal: 12.3–18 g/dL), a hematocrit of 12% (normal: 40–54%), mean cell volume of 104.8 fL (normal: 80–100 fL), mean cell hemoglobin 53.5 pg (normal: 27–33 pg), and red blood cell distribution width 17.2% (normal: 11.0–16.0%)). Blood cell counts revealed a leukocytosis of 19,350/
Under general anesthesia, the abdominal cavity was entered through an upper midline incision. A gastrogastric intussusception was found. The gastric fundus was intussuscepting into the body of the stomach (Figure
Intraoperative photograph of gastrogastric intussusception. (a) The fundus intussuscepting into the body of the stomach (white arrow). (b) GIST after reduction of the intussusception. The GIST is extending exophytically (white arrow). (c) A 2.5 cm × 2.5 cm excised GIST.
GIST histology. (a) H&E staining demonstrating spindle cells ×400. (b) IHC staining showing CD117 positive cells ×400.
We identified 28 reports concerning 28 cases of intussusception due to GIST. We excluded 10 reports because they failed to report immunohistochemical (IHC) staining for CD117 or failed to report the results of the analysis discovered on GIST-1 (DOG-1) or platelet-derived growth factor receptor alpha (PDGFRA) markers for the CD117-negative tumors. Therefore, we only included 18 reports concerning 18 cases of intussusception due to GIST in the literature review. The patients were aged 34 to 95 years (mean, 60 ± 15.8 years); 72% (
General characteristics of 18 cases of intussusception due to gastrointestinal stromal tumor reported between 1983 and 2018.
Reference | Country | Age (year) | Gender | Presentation | Duration of complaints | Palpable mass | Imaging tool | Surgical approach | Tumor location | Tumor size largest dimension (cm) | Expression for c-Kit/CD117, mitotic index | Follow-up/recurrence |
---|---|---|---|---|---|---|---|---|---|---|---|---|
[ |
Greece | 79 | F | Lower right abdominal colicky pain, abdominal distention, N + V | 5 days | No | Plain X-ray, contrast CT | Laparotomy, end-to-end ileoileal anastomosis | Ileum | 2.2 | Positive, 7-8 mitoses/50 HPF | 11 months, no recurrence |
[ |
Brunei | 62 | F | Epigastric pain, melena | 3 days | No | Endoscopy, CT | Billroth II, partial gastrectomy | Distal body of the stomach | 5.2 | Positive, 6 mitoses/50 HPF | Taking imatinib mesylate, no recurrence |
[ |
China | 34 | F | Epigastric pain, vomiting | 1 month | No | CT, endoscopy | Laparoscopic, wedge resection | Fundus | 6.5 | Positive, 2 mitoses/50 HPF | No recurrence, on follow-up |
[ |
USA | 52 | F | Epigastric pain, vomiting | 1 day | No | CT, endoscopy | Laparoscopic, wedge resection | Fundus | 5.0 | Positive, 4 mitoses/50 HPF | 5 months, no recurrence, taking imatinib mesylate |
[ |
Japan | 95 | F | Vomiting and loss of appetite, melena | 1 week | NR | CT, endoscopy | Endoscopic submucosal dissection | Posterior wall of distal body | 4.2 | Positive, 4 mitoses/50 HPF | No recurrence, patient died of old age 55 months later |
[ |
Japan | 51 | M | N + V, melena, and severe anemia | 4 days | No | CT, endoscopy | Antrum | 5.5 | Positive/NR | No recurrence | |
[ |
India | 65 | F | Upper abdominal pain, intermittent vomiting 30 minutes after meals | 6 months | Yes | CT, endoscopy | Laparotomy, wedge resection | Pylorus | 6.0 | Positive, 0-1 mitosis/50 HPF | 1 year, no recurrence |
[ |
Ireland | 78 | F | Upper abdominal discomfort, vomiting, and anorexia | 1 week | NR | CT | Endoscopic reduction, laparoscopic, wedge resection | Body and antrum | 4.5 | Positive, NR | No recurrence on follow-up |
[ |
Ghana | 59 | F | Intermittent vomiting | 1 week | Yes | US | Laparotomy, wedge resection | Anterior wall stomach | NR | Positive, <1 mitosis/50 HPF | 12 months, no recurrence |
[ |
India | 60 | F | Intermittent vomiting 30 minutes after meals, loss of appetite and weight | NR | NR | CT, endoscopy | Laparoscopic, Billroth II, partial gastrectomy | Antrum | 8.0 | Positive, 2 mitoses/50 HPF | 14 months, no recurrence |
[ |
China | 69 | F | Acute abdominal pain, N + V | 6 hours | No | Endoscopy | Laparoscopic wedge resection | Antrum | 4.5 | Negative, but DOG-1 and CD34-positive, no PDGFRA mutation, < 5 mitoses/50 HPF | 33 months, no recurrence |
[ |
UK | 68 | M | Abdominal pain and distension, vomiting, constipation, melena | NR | NR | CT | Laparotomy | Jejunum | 4.0 | Positive, 0-1 mitosis/50 HPF | NR, no recurrence |
[ |
UK | 70 | M | Abdominal pain, nausea, bilious vomiting, constipation | 1 week | NR | Abdominal X-ray, CT | Laparotomy, primary anastomosis | Jejunum | 4.0 | Positive/NR | 3 months, no recurrence, taking imatinib mesylate |
[ |
Morocco | 59 | F | Abdominal distension, pain, constipation, vomiting | 6 months | No | CT | Laparotomy, primary ileoileal anastomosis | Ileum | NR | Positive/NR | NR |
[ |
India | 46 | F | Abdominal pain, abdominal distension, anorexia, vomiting, constipation | 36 hours | Yes | Endoscopy, US, CT | Laparotomy, primary jejunojejunal anastomosis | Jejunum | 4.0 | Positive, 6 mitoses/50 HPF | 2 years, no recurrence, taking imatinib mesylate |
[ |
India | 38 | M | Abdominal pain | 2 months | Yes | US, CT enteroclysis | Laparotomy, tumor resection | Jejunum | 15.0 | Positive, 6 mitoses/50 HPF | Six months, no recurrence, taking imatinib mesylate |
[ |
India | 59 | M | Abdominal pain, distension, bilious vomiting, constipation | 3 days | No | Plain X-ray abdomen, US | Laparotomy, primary ileoileal anastomosis | Ileum | NR | Positive/NR | NR |
[ |
UK | 36 | F | Collapse, melena, hypotension (82/46 mmHg), tachycardia (150 bpm) | NR | No | CT | Laparotomy, pancreaticoduodenectomy | Duodenum | 15.0 | Positive/NR | No recurrence |
F: female; M: male; NR: not reported; US: ultrasonography; CT: computed tomography; N + V: nausea and vomiting; HPF: high-power field; USA: United States of America; UK: United Kingdom; bpm: beats per minute; DOG-1: discovered on GIST-1; PDGFRA: platelet-derived growth factor receptor alpha.
GISTs may occur anywhere along the GI tract with 60–70% of tumors occurring in the stomach and 20–25% in the small bowel [
GISTs are one of the most common sarcomatous tumors of the gastrointestinal tract, with an incidence rate of 6 to 14 cases per million people in the United States of America and Europe [
A review of 18 cases of intussusception secondary to GIST found that approximately 56% of GISTs were located in the stomach followed by a quarter of tumors arising from the jejunum. We also found that over half of the types of intussusception were gastroduodenal. Mucosal ulceration or fistulation occurs in about 15–50% of these tumors. The associated bleeding in our patient likely contributed to her anemia. Pathohistologically, GISTs are defined by positive immunostaining for c-Kit protooncogene-CD117 (overexpressed in 95%) and CD34 (positive in 60% to 70%) [
GISTs most commonly present with dyspepsia and GI bleeding presenting as melena caused by pressure necrosis and ulceration of the overlying mucosa [
Abdominal X-ray is the first diagnostic tool used due to the obstructive symptoms that dominate the clinical picture in most cases. However, due to its high sensitivity (98–100%), specificity (88%), and a lower cost, abdominal ultrasound scan (US) is the diagnostic tool of choice [
In low-resource countries where access to imaging modalities like CT scan and endoscopy is a challenge [
Treatment of adult intussusception is always surgical [
Although gastric GIST is not uncommon, presentation in the form of gastrogastric intussusception is very rare. This diagnosis should be entertained in a patient with acute gastric outlet obstruction and melena. In low-resource countries with limited access to imaging modalities, clinical history and physical exams should be the basis of early diagnosis and surgical management. Surgical management is the best treatment modality. After reduction of the intussusception, GIST requires surgical resection and should be histologically analyzed to quantify its aggressiveness.
The authors obtained informed consent from the patient described in this report.
The authors have no conflicts of interest to declare.
Paddy Ssentongo, John S. Oh, and Forster Amponsah-Manu designed the research. Mark Egan performed the pathological analysis. All authors performed the research. Paddy Ssentongo performed the literature search, data analysis, and drafted the manuscript. All authors reviewed and agreed on the final version of the manuscript.
This study was supported by the Global Surgery Program, Penn State Hershey College of Medicine, Hershey, PA, United States.