|
1
|
Mirovic M, Stojanovic MD, Jovanovic M, Stankovic V, Milosev D, Zdravkovic N, Milosevic B, Cvetkovic A, Spasic M, Vekic B, Jovanovic I, Stojanovic BS, Petrovic M, Bogut A, Peulic M, Stojanovic B. Exploring Perforated Jejunal GIST: A Rare Case Report and Review of Molecular and Clinical Literature. Curr Issues Mol Biol 2024; 46:1192-1207. [PMID: 38392194 PMCID: PMC10887764 DOI: 10.3390/cimb46020076] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/23/2023] [Revised: 01/13/2024] [Accepted: 01/24/2024] [Indexed: 02/24/2024] Open
Abstract
This case report details a rare instance of a perforated jejunal gastrointestinal stromal tumor (GIST) in a 76-year-old female patient. The patient presented with acute abdominal pain and distension without any changes in bowel habits or episodes of nausea and vomiting. Initial diagnostics, including abdominal plain radiography and ultrasonography, were inconclusive; however, a computed tomography (CT) scan revealed pneumoperitoneum and an irregular fluid collection suggestive of small intestine perforations. Surgical intervention uncovered a 35 mm jejunal GIST with a 10 mm perforation. Histopathological examination confirmed a mixed cell type GIST with high malignancy potential, further substantiated by immunohistochemistry markers CD117, DOG1, and vimentin. Molecular analysis illuminated the role of key oncogenes, primarily KIT and PDGFRA mutations, emphasizing the importance of molecular diagnostics in GIST management. Despite the severity of the presentation, the patient's postoperative recovery was favorable, highlighting the effectiveness of prompt surgical and multidisciplinary approaches in managing complex GIST cases.
Collapse
Affiliation(s)
- Milos Mirovic
- Department of General Surgery, Clinical Hospital Center Kotor, 85330 Kotor, Montenegro
| | - Milica Dimitrijevic Stojanovic
- Department of Pathology, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
- Department of Pathology, University Clinical Center Kragujevac, 34000 Kragujevac, Serbia
| | - Marina Jovanovic
- Department of Internal Medicine, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
| | - Vesna Stankovic
- Department of Pathology, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
- Department of Pathology, University Clinical Center Kragujevac, 34000 Kragujevac, Serbia
| | - Danijela Milosev
- Department of Pathology, University Clinical Center Kragujevac, 34000 Kragujevac, Serbia
| | - Natasa Zdravkovic
- Department of Internal Medicine, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
| | - Bojan Milosevic
- Department of Surgery, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
| | - Aleksandar Cvetkovic
- Department of Surgery, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
| | - Marko Spasic
- Department of Surgery, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
| | - Berislav Vekic
- Department of Surgery, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
| | - Ivan Jovanovic
- Center for Molecular Medicine and Stem Cell Research, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
| | - Bojana S Stojanovic
- Department of Pathophysiology, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
| | - Marko Petrovic
- Department of Surgery, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
| | - Ana Bogut
- City Medical Emergency Department, 11000 Belgrade, Serbia
| | - Miodrag Peulic
- Department of Surgery, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
| | - Bojan Stojanovic
- Department of Surgery, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
| |
Collapse
|
|
2
|
Abdelgawad M, Kamel OM, Issa PP, Omar M, Barghuthi L, Davis T, Ismael H. Ruptured gastro-intestinal stromal tumor as a surgical emergency: A case report and literature review. J Surg Case Rep 2022; 2022:rjac434. [PMID: 36452287 PMCID: PMC9699728 DOI: 10.1093/jscr/rjac434] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/13/2022] [Accepted: 08/29/2022] [Indexed: 02/02/2024] Open
Abstract
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. GISTs of the small bowel are rare, and often present with an abdominal mass and/or bleeding. Chemotherapy and surgery are the mainstay of therapy. Here, we discuss an unusual case of a ruptured jejunal GIST with hemoperitoneum and recurrence despite surgical excision followed by Imatinib treatment. Forty-five cases of ruptured small intestinal GISTs were identified in the literature. Most cases were in males and were found to be at the site of the jejunum.
Collapse
Affiliation(s)
- Mohamed Abdelgawad
- Department of Surgery, University of Texas Health Science Center, UT Health East Texas, Tyler, TX, USA
| | - Omar M Kamel
- Department of Surgery, School of Medicine, Tulane University, New Orleans, LA, USA
| | - Peter P Issa
- School of Medicine, Louisiana State University Health Sciences Center, New Orleans, LA, USA
| | - Mahmoud Omar
- Department of Surgery, School of Medicine, Tulane University, New Orleans, LA, USA
| | - Lutfi Barghuthi
- Department of Surgery, University of Texas Health Science Center, UT Health East Texas, Tyler, TX, USA
| | - Tyler Davis
- Department of Surgery, University of Texas Health Science Center, UT Health East Texas, Tyler, TX, USA
| | - Hishaam Ismael
- Department of Surgery, University of Texas Health Science Center, UT Health East Texas, Tyler, TX, USA
| |
Collapse
|
|
3
|
Chung D. Jejunal diverticulitis secondary to a gastrointestinal stromal tumor: A case report. Int J Surg Case Rep 2021; 85:106291. [PMID: 34388891 PMCID: PMC8361120 DOI: 10.1016/j.ijscr.2021.106291] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/01/2021] [Revised: 08/05/2021] [Accepted: 08/05/2021] [Indexed: 02/08/2023] Open
Abstract
INTRODUCTION The common manifestations of gastrointestinal stromal tumors (GIST) are well established. However, jejunal diverticulosis is an uncommon phenomenon to be associated with this lesion, with its rarity compounded by the relative difficulty associated with its diagnosis. Limited literature is available on this topic. This article examines one such case of jejunal diverticulitis as a result of a GIST, and the intervention of said disease. CASE PRESENTATION A 69 year old lady presented with abdominal pain, vomiting, and low grade fevers, on a background of ulcerative colitis. She was peritonitic, raising concerns of an acute abdomen. Her imaging identified an intra-abdominal contained perforation, prompting a transfer to theatres overnight for a laparotomy, which identified a jejunal diverticulum, which resembled a contained perforation. This was resected, and sent for histopathological analysis, identifying the lesion as a GIST. DISCUSSION Unlike other forms of jejunal diverticular disease, those arising from GISTs tend to present perforated, necessitating resection. This disease displays a tendency towards formation on the anti-mesenteric border of the small bowel. Additionally, this particular form of GIST shows macroscopic and histopathological uniformity across reported cases to date despite significant geographical disparity. CONCLUSION A scant number of case reports worldwide have identified jejunal diverticulitis from GISTs. We suggest diverticula be excised if perforation is suspected, while incidental findings of such be left untouched. However, overall management should be undertaken at the discretion of the operating surgeon.
Collapse
|
|
4
|
Tajima T, Nishi T, Tomioku M, Ogimi T, Chan LF, Okazaki T, Myoujin K, Shimada H. Perforated gastrointestinal stromal tumor in the small intestine: A rare case of Torricelli-Bernoulli sign. Mol Clin Oncol 2018; 9:399-402. [PMID: 30233793 DOI: 10.3892/mco.2018.1699] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/22/2018] [Accepted: 07/11/2018] [Indexed: 12/12/2022] Open
Abstract
The Torricelli-Bernoulli sign is a computed tomography (CT) finding that occurs when ulceration/necrosis of a submucosal gastrointestinal tumor releases a stream of air bubbles into the intestinal lumen. A 75-year-old man developed acute abdominal pain at night and presented to a local doctor. Acute abdomen was diagnosed and he was referred to the Emergency Department at Tokai University Oiso Hospital. On CT scans, disseminated intestinal tumor-like lesions were seen in the right lower abdomen. The Torricelli-Bernoulli sign and free intraabdominal gas were observed, so perforation of an intestinal tumor was diagnosed and emergency surgery was performed. At operation, there was scanty opaque ascites in the right lower abdomen and an ileal tumor associated with nodules that suggested peritoneal dissemination. Partial resection of the ileum was performed and peritoneal lavage was conducted. The patient was discharged on postoperative day 11. Histopathological examination revealed a high risk gastrointestinal stromal tumor. The abdominal nodules were metastases, indicating that the tumor was Stage IV. The patient is currently on treatment with an oral tyrosine kinase inhibitor (imatinib).
Collapse
Affiliation(s)
- Takayuki Tajima
- Department of Surgery, Tokai University Oiso Hospital, Kanagawa 259-0189, Japan
| | - Takayuki Nishi
- Department of Surgery, Tokai University Oiso Hospital, Kanagawa 259-0189, Japan
| | - Mifuji Tomioku
- Department of Surgery, Tokai University Oiso Hospital, Kanagawa 259-0189, Japan
| | - Takashi Ogimi
- Department of Surgery, Tokai University Oiso Hospital, Kanagawa 259-0189, Japan
| | - Lin Fung Chan
- Department of Surgery, Tokai University Oiso Hospital, Kanagawa 259-0189, Japan
| | - Takashi Okazaki
- Department of Radiology, Tokai University Hospital, Kanagawa 259-1193, Japan
| | - Kazunori Myoujin
- Department of Radiology, Tokai University Oiso Hospital, Kanagawa 259-0189, Japan
| | - Hideo Shimada
- Department of Surgery, Tokai University Oiso Hospital, Kanagawa 259-0189, Japan
| |
Collapse
|
|
5
|
Perforated Gastrointestinal Stromal Tumor of the Meckel's Diverticulum: a Case Report and Review of Literature. Indian J Surg 2016; 78:390-395. [PMID: 27994335 DOI: 10.1007/s12262-016-1525-7] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/20/2016] [Accepted: 07/05/2016] [Indexed: 01/13/2023] Open
Abstract
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the GI tract, they have a wide spectrum of clinical manifestations, and a small proportion of them present as an acute abdomen due to obstruction, perforation, or hemoperitoneum. We present a case of a perforated GIST of the Meckel's diverticulum and review the current literature on perforated GISTs. We ran a search on Pubmed and Google Scholar with the following terms "perforated GIST," "perforated Meckel's diverticulum," "GIST with peritonitis," and "GIST in Meckel's diverticulum." After selecting the relevant articles, we tabulated our results and analyzed the data. Out of the 45 cases, 32 (71.1 %) were male and 13 (28.8 %) were female. Out of the 45 reported cases, 41 (91.1 %) were from the small intestine, 2 (4.44 %) cases from the stomach, and 2 (4.44 %) from the small bowel. In 15 (33.33 %) cases, the site of perforation was the Meckel's diverticulum (MD). Forty-year-old male, presented with features of peritonitis localized to the right iliac fossa, was diagnosed as acute appendicitis and subjected to a diagnostic laparoscopy. Intraoperatively, a perforated Meckel's diverticulum was found, which on histopathological examination contained a low-grade GIST. Our literature search revealed that in reported cases of perforated GISTs, there is a slight male preponderance. Small bowel appears to be the most common site for a perforated GIST, and a significant proportion (30.23 %) arise from the Meckel's diverticulum. And most importantly, the commonest tumor to cause perforation of a Meckel's diverticulum is a GIST.
Collapse
|
|
6
|
Ikemura M, Kunita A, Miwa Y, Jimbo K, Mori K, Seto Y, Fukayama M. Gut wall replacing type of gastrointestinal stromal tumor presenting as a perforation of the ileal diverticulum. Pathol Res Pract 2015; 211:892-5. [DOI: 10.1016/j.prp.2015.05.001] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/23/2015] [Revised: 05/05/2015] [Accepted: 05/08/2015] [Indexed: 12/16/2022]
|
|
7
|
A case of a stomach gastrointestinal stromal tumor with extremely predominant cystic formation. Clin J Gastroenterol 2015; 8:197-201. [PMID: 26112771 DOI: 10.1007/s12328-015-0577-8] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/28/2015] [Accepted: 05/26/2015] [Indexed: 12/11/2022]
Abstract
A 79-year-old male was referred to the hospital with a history of abdominal discomfort. Abdominal computed tomography revealed a cystic tumor with irregular wall thickness, approximately 50 mm in diameter, along the lesser curvature of the gastric body. Magnetic resonance imaging visualized the mass as signal-hyperintense on T2-weighted imaging. Esophagogastroduodenoscopy showed a submucosal tumor with normal mucosa. Surgery was performed and the 60 × 50 × 50 mm mass was resected. The resected tumor comprised cystic and solid regions; the cystic region was filled by light bloody serous fluid. On histological examination, a solid region of the resected tumor showed a spindle-cell appearance. The diagnosis was gastric gastrointestinal stromal tumor (GIST) with predominant cystic formation. GISTs are usually solitary tumors, but in this case the tumor demonstrated extremely predominant cystic formation. Lesions with a hemorrhage or necrosis may form large cystic spaces. GISTs may show extensive cystic changes in response to tyrosine kinase inhibitor treatment; however, this patient had not undergone any such treatment before diagnosis. This represents an interesting case of a gastric GIST with predominant cystic formation occupying most of the tumor volume. Care should be taken to differentiate between GISTs and actual intra-abdominal cystic lesions.
Collapse
|
|
8
|
Alessiani M, Gianola M, Rossi S, Perfetti V, Serra P, Zelaschi D, Magnani E, Cobianchi L. Peritonitis secondary to spontaneous perforation of a primary gastrointestinal stromal tumour of the small intestine: A case report and a literature review. Int J Surg Case Rep 2014; 6C:58-62. [PMID: 25524303 PMCID: PMC4334641 DOI: 10.1016/j.ijscr.2014.12.012] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/04/2014] [Revised: 12/03/2014] [Accepted: 12/05/2014] [Indexed: 12/12/2022] Open
Abstract
Emergency presentation of a GIST is not uncommon and one of its manifestations is acute abdome. The cases described in the literature are the tip of the iceberg and spontaneous rupture or perforation of GISTs are a far more frequent first presentation of this rare tumour. The jejunum was the more common location of perforation compared to the ileum. Emergency surgery is mandatory and should achieve radical resection. Introduction A few cases of acute abdomen caused by perforation of small-intestinal gastrointestinal stromal tumours (GISTs) have been reported in the literature. Presentation of case Together with a review of the published cases, here we report a case of an elderly patient with peritonitis due to spontaneous perforation of a GIST of the jejunum. An 82-year-old man was admitted to the emergency unit of our hospital with fever and severe abdominal pain. An abdominal enhanced computed tomography scan detected a 6 cm solid mass in the left upper quadrant adherent to a jejunal loop and surrounded by free fluid and free air. Due to the radiological features of the mass, the diagnosis of a perforation of a GIST arising from the jejunum wall was suspected. The patient underwent emergency laparotomy. Intraoperative findings confirmed diffuse peritonitis secondary to jejunal tumour perforation. A segmental resection of the jejunum containing the mass was performed followed by a mechanical end-to-side anastomosis. The histopathologic examination of the mass confirmed the diagnosis of a perforated GIST of the small intestine (high-risk category). The post-operative course was uneventful and the patient was treated with adjuvant imatinib therapy. Discussion Twenty-one other cases of spontaneous perforation of small intestine GISTs are reported in the literature and are summarized in the present review. Conclusion The described case is the tip of the iceberg and spontaneous rupture or perforation of GISTs are a far more frequent first presentation of this rare tumour.
Collapse
Affiliation(s)
- Mario Alessiani
- Department of General Surgery, Varzi Hospital, Italy; Department of Clinical, Surgical, Diagnostic and Paediatric Sciences, University of Pavia, Italy
| | - Marco Gianola
- Department of General Surgery, Varzi Hospital, Italy
| | | | - Vittorio Perfetti
- Department of Oncology, IRCCS San Matteo Hospital Foundation, Pavia, Italy.
| | - Piero Serra
- Department of General Surgery, Varzi Hospital, Italy.
| | | | - Enzo Magnani
- Department of General Surgery, Varzi Hospital, Italy.
| | - Lorenzo Cobianchi
- Unit of General Surgery 1, IRCCS San Matteo Hospital Foundation, Pavia, Italy; Department of Clinical, Surgical, Diagnostic and Paediatric Sciences, University of Pavia, Italy.
| |
Collapse
|
|
9
|
Freeman HJ. Spontaneous free perforation of the small intestine in adults. World J Gastroenterol 2014; 20:9990-9997. [PMID: 25110427 PMCID: PMC4123378 DOI: 10.3748/wjg.v20.i29.9990] [Citation(s) in RCA: 33] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/09/2013] [Revised: 01/21/2014] [Accepted: 04/09/2014] [Indexed: 02/06/2023] Open
Abstract
Spontaneous free perforation of the small intestine is uncommon, especially if there is no prior history of visceral trauma. However, free, even recurrent, perforation may complicate a defined and established clinical disorder, such as Crohn’s disease. In addition, free perforation may be the initial clinical presentation of an occult intestinal disorder, such as a lymphoma complicating celiac disease, causing diffuse peritonitis and an acute abdomen. Initial diagnosis of the precise cause may be difficult, but now has been aided by computerized tomographic imaging. The site of perforation may be helpful in defining a cause (e.g., ileal perforation in Crohn’s disease, jejunal perforation in celiac disease, complicated by lymphoma or collagenous sprue). Urgent surgical intervention, however, is usually required for precise diagnosis and treatment. During evaluation, an expanding list of other possible causes should be considered, even after surgery, as subsequent management may be affected. Free perforation may not only complicate an established intestinal disorder, but also a new acute process (e.g., caused by different infectious agents) or a longstanding and unrecognized disorder (e.g., congenital, metabolic and vascular causes). Moreover, new endoscopic therapeutic and medical therapies, including use of emerging novel biological agents, have been complicated by intestinal perforation. Recent studies also support the hypothesis that perforation of the small intestine may be genetically-based with different mutations causing altered connective tissue structure, synthesis and repair.
Collapse
|