Jejunal gastrointestinal stromal tumors masquerading as an appendicular mass: an unusual presentation

Gastrointestinal stromal tumors (GISTs) are a rare variety of tumors of mesenchymal origin found in the gastrointestinal (GI) tract forming about 1% of all GI tumors. These originate from the interstitial cells of Cajal. Small bowel GISTs have been shown to present as obscure GI bleeding, obstruction and perforation in literature. We report a 57 years old female patient presenting with pain abdomen, fever and vomiting and palpable right iliac fossa (RIF) mass diagnosed as an appendicular mass and managed conservatively. She was planned interval appendicectomy and was discovered to have a jejunal GIST at laparotomy treated with resection and anastomosis. There are case reports of small bowel GISTs presenting as sources of obscure or overt GI bleeding and luminal or extra luminal mass causing small bowel obstruction. Surgery is mainstay of treatment with imatinib for adjuvant or neoadjuvant therapy. This case highlights an unusual presentation of a jejunal GIST with a sealed off perforation mimicking an appendicular mass in the RIF treated by surgical resection followed by adjuvant Imatinib therapy. GIST being an uncommon tumor with varied presentations can lead to misdiagnosis and delays in treatment. This differential should be kept in mind while evaluating small bowel pathologies to aid a timely diagnosis.

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Gallbladder GIST: A review of literature

Polish Journal of Surgery ◽

10.5604/01.3001.0013.5550 ◽

2019 ◽

Vol 92 (1) ◽

pp. 1-5

Author(s):

Ashish Gupta

Keyword(s):

Gastrointestinal Stromal Tumors ◽

Interstitial Cells Of Cajal ◽

Case Reports ◽

Gallbladder Wall ◽

Postoperative Adjuvant Therapy ◽

Review Of Literature ◽

Mesenchymal Tumors ◽

Stromal Tumors ◽

Extensive Search ◽

Cells Of Cajal

Mesenchymal tumors of the gallbladder are rarely encountered in clinical practice. The Gastrointestinal Stromal tumors(GIST) of the gallbladder are rarely encountered. These tumors most commonly arise from the interstitial cells of cajal(ICC), the pacemakers of the intestinal system. There can be benign as well as malignant form of GIST .The literature on GIST arising from the gallbladder wall is limited to few case reports only.on extensive search of the indexed literature only 9 cases of gallbladder GIST were retrieved. Based on the available literature these tumors are commonly found in females. They usually present with hypochondrial pain with or without other features of cholangitis. These tumors are usually malignant and warrant a radical surgical excision.The data on postoperative adjuvant therapy and survival is limited. The authors are presenting a review of the available literature on this rare pathology.

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P-EGS03 Curious Case of Life Threatening Gastrointestinal Bleed

British Journal of Surgery ◽

10.1093/bjs/znab430.063 ◽

2021 ◽

Vol 108 (Supplement_9) ◽

Author(s):

VIBHA SINGH

Keyword(s):

Arteriovenous Malformation ◽

Gastrointestinal Stromal Tumors ◽

Severe Anaemia ◽

Intestinal Bleeding ◽

Cross Sectional ◽

Stromal Tumors ◽

Cross Sectional Imaging ◽

Life Threatening ◽

Cells Of Cajal ◽

Resection And Anastomosis

Abstract Background Gastrointestinal stromal tumors are mesenchymal in origin, being derived from the interstitial cells of Cajal. These can be found anywhere in the gastrointestinal tract and are commonly found in the stomach followed by the small bowel. Gastrointestinal stromal tumors are usually asymptomatic and are often found incidentally. Chronic bleeding is one of the most common presentation. Gastrointestinal stromal tumors presenting with massive gastro intestinal haemorrhage and mimicking arteriovenous malformation on radiology are rare with only few cases reported. Methods Herein we present such a case of a 45-year-old gentleman with massive gastro intestinal bleeding. At presentation, patient was in congestive heart failure due to severe anaemia with a hemoglobin of 2.9g/dL. CECT Angiography localised the bleed to be from a jejunal mass lesion with radiological features consistent with those of arteriovenous malformation. Patient underwent laparoscopy assisted resection and anastomosis. Results Histopathology examination revealed a low risk jejunal gastrointestinal stromal tumor with no evidence of arteriovenous malformation. The mass was removed completely and the patient was discharged on 5th post-operative day. Patient was followed up in the out-patient department and was found to be doing well. Conclusions Gastrointestinal stromal tumors though relatively uncommon should be kept as important differentials for acute torrential gastrointestinal bleeding. It is highlighted that a presentation of gastrointestinal stromal tumors similar to that of arteriovenous malformations on cross sectional imaging should be kept in mind. The present case is reported in hope of expanding the knowledge of a rare occurrence, its aetiology, clinical impact and treatment.

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Presentation and Management of Gastrointestinal Stromal Tumors of the Duodenum

The American Surgeon ◽

10.1177/000313480607200811 ◽

2006 ◽

Vol 72 (8) ◽

pp. 719-723 ◽

Cited By ~ 8

Author(s):

Robert D. Winfield ◽

Steven N. Hochwald ◽

Stephen B. Vogel ◽

Alan W. Hemming ◽

Chen Liu ◽

...

Keyword(s):

Small Bowel ◽

Gastrointestinal Stromal Tumors ◽

Incidental Finding ◽

Case Reports ◽

Complete Removal ◽

Gastric Gist ◽

Stromal Tumors ◽

Duodenal Gist ◽

Median Size ◽

Duodenal Resection

Duodenal gastrointestinal stromal tumors (GIST) have been described primarily in isolated case reports. In order to learn more about duodenal GIST, a retrospective review of patients with GIST managed at a single institution between 2000 and 2005 was conducted. Thirty-eight GIST of the stomach and small bowel were analyzed. Eight (21%) were duodenal GIST. The median size of duodenal GIST (6.0 cm) and small bowel GIST (6.3 cm) was larger than the median size of gastric GIST (3.0 cm). The most common presentation of duodenal GIST was bleeding (50%) which was similar to other small bowel GIST (49%) but different from gastric GIST which were most commonly an incidental finding (62%). Two patients (25%) with duodenal GIST had a history of neurofibromatosis. The duodenal GIST were located in the 2nd (n = 5, 63%) and 3rd portion of duodenum (n = 3, 37%). Seven of 8 patients underwent complete resection of duodenal GIST. Pancreaticoduodenectomy was the most common operation performed (n = 5); 2 patients were treated with partial duodenal resection. No patients undergoing pancreaticoduodenectomy (n = 5) were found to have lymph node metastases. No patients received neo-adjuvant or adjuvant therapy with Imatinib. Following resection, 2 patients have recurred (12 and 48 mo.), 4 patients are without disease (1, 6, 6, and 24 mo.), 1 patient died postoperatively. Duodenal GIST are relatively rare tumors that present most commonly with gastrointestinal bleeding. Duodenal GIST are associated with neurofibromatosis. Many duodenal GIST require pancreaticoduodenectomy for complete removal.

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Malignant Extra-Gastrointestinal Stromal Tumor of the Mesentery

The Surgery Journal ◽

10.1055/s-0039-1693040 ◽

2019 ◽

Vol 05 (03) ◽

pp. e65-e68 ◽

Cited By ~ 2

Author(s):

Prakash K. Sasmal ◽

Rakesh Sharma ◽

Susama Patra ◽

Tushar S. Mishra ◽

Pritinanda Mishra ◽

...

Keyword(s):

Small Bowel ◽

Gastrointestinal Stromal Tumors ◽

Alimentary Tract ◽

Large Mass ◽

Histopathological Study ◽

Small Bowel Mesentery ◽

Mesenchymal Tumors ◽

Stromal Tumors ◽

Cells Of Cajal

Gastrointestinal stromal tumors (GISTs), the commonest mesenchymal tumors of gastrointestinal tract are often described to take origin from the interstitial cells of Cajal (ICC) or its precursor cells. Rarely these tumors do arise in structures other than the alimentary tract like omentum, mesentery, retroperitoneum, etc., of varying malignant potential and are known as extra-gastrointestinal stromal tumors (eGISTs).This is a case report of a 70-year-old female with multicentric malignant eGISTs arising in the mesentery of ileum. On laparotomy, a large mass of 20 × 15 cm was found in the small bowel mesentery without involvement of the adjacent ileum, with multiple other small nodules resembling lymph nodes, present adjacent to it. Histopathological study of the excised lump, confirmed the mass to be malignant eGIST without involvement of the adjacent ileum, with cluster differentiation (CD)117 positive and of high-risk stratification. The mesenteric nodule was confirmed on histopathology to be malignant eGIST, similar to that of that of the primary, without any lymphoid tissue. Adjuvant imatinib mesylate treatment was started immediately postoperation with the patient doing well at 1 year of follow-up. We report this case, due to the rare occurrence of multifocal malignant eGISTS of small bowel mesentery, which is yet to be reported. The existing literature is unclear regarding the clinicopathology and management of multifocal malignant stromal tumors of the mesentery.

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Acute intestinal obstruction revealing synchronous gastrointestinal stromal tumors in a small bowel diverticulum and mucinous adenocarcinoma of the colon: a case report

Pan African Medical Journal ◽

10.11604/pamj.2015.21.172.2828 ◽

2015 ◽

Vol 21 ◽

Author(s):

El Ochi Mohamed ◽

Jahid Ahmed ◽

El Ktaibi Abderrahim ◽

Znati Kawtar ◽

Zouaidia Fouad ◽

...

Keyword(s):

Case Report ◽

Small Bowel ◽

Intestinal Obstruction ◽

Mucinous Adenocarcinoma ◽

Gastrointestinal Stromal Tumors ◽

Acute Intestinal Obstruction ◽

Stromal Tumors ◽

Adenocarcinoma Of The Colon

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Imatinib in the Management of Multiple Gastrointestinal Stromal Tumors Associated With a Germline KIT K642E Mutation

Archives of Pathology & Laboratory Medicine ◽

10.5858/2007-131-1393-iitmom ◽

2007 ◽

Vol 131 (9) ◽

pp. 1393-1396

Author(s):

Janet Graham ◽

Maria Debiec-Rychter ◽

Christopher L. Corless ◽

Robin Reid ◽

Rosemarie Davidson ◽

...

Keyword(s):

Gastrointestinal Stromal Tumors ◽

Interstitial Cells Of Cajal ◽

Germline Mutations ◽

Mesenchymal Tumors ◽

Stromal Tumors ◽

Pdgfra Gene ◽

Oncogenic Mutations ◽

Esophageal Tumors ◽

Exon 11 ◽

Cells Of Cajal

Abstract Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gut and are distinguished by expression of CD117 (c-Kit). Oncogenic mutations in the KIT or PDGFRA gene are detected in approximately 85% of sporadic GISTs. In recent years, examples of familial GIST have been reported in which germline mutations of KIT or PDGFRA result in multiple GISTs, skin disorders, and other abnormalities. The most common germline mutations are in KIT exon 11, mutations in exons 8 and 17 have also been described, and there are 2 families with germline PDGFRA mutations. We present a case in which a germline KIT exon 13 mutation (K642E) was discovered in a patient with multiple GISTs of rectum, small intestine, and esophagus, as well as diffuse hyperplasia of the interstitial cells of Cajal. To our knowledge, this is only the second germline example of this particular mutation. The patient's esophageal tumors were stabilized with imatinib.

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