Gastrointestinal Stromal Tumor Presenting Research Articles

EUS Uncovered the “Hidden Iceberg:” A Case of Synchronous GIST and MALToma

Gastrointestinal stromal tumors (GISTs) are mesenchymal neoplasms that typically present as subepithelial lumps. Mucosa-associated lymphoid tissue lymphoma (MALToma) is the most common gastric lymphoma, often a result of chronic Helicobacter pylori (H Pylori) infection. Endoscopic ultrasound (EUS) has an evolving role in diagnosing subepithelial lesions of the gastrointestinal tract. Few cases have been reported in the literature with GIST and MALToma presenting together in the stomach as “synchronous tumors”. We are reporting a patient with a gastric mass that was initially diagnosed as MALToma on gastric biopsies but core biopsies by EUS revealed underlying GIST as a synchronous tumor. 71-year-old woman presented with an incidental finding of a gastric mass measuring 23X27 mm on CT imaging. EGD showed 2x3 cm mass within the proximal stomach with central umbilication. Biopsies showed chronic active gastritis with evidence of H Pylori infection and a lymphoplasmacytic infiltrate; immunohistochemical staining for CD20 and CD3 shows increased B cells relative to T cells with a monoclonal B-cell population, consistent with a diagnosis of gastric MALToma. The patient was treated for H pylori with triple therapy. Follow up EGD confirmed eradication of H Pylori with persistence of the polypoid mass. EUS confirmed a sub epithelial mass measuring 2x1.5cm arising from the muscularis propria. Fine needle biopsy (FNB) showed neoplastic cells positive for CD117 confirming the diagnosis of GIST. He underwent curative laparoscopic wedge resection. GIST's and MALToma's are both rare tumors arising from the stomach. Gastroscopic biopsies can diagnose mucosal lesions like MALToma, but do not yield sufficient sub-epithelial tissue. MALToma's are a form of gastric lymphoma that usually responds to H pylori eradication in about 75% of cases. GIST's are subepithelial lesions with good outcomes following surgical resection if they have not metastasized. Our case represents a scenario where a superficial MALToma capped the underlying GIST lesion. Latter diagnosis was only obvious following EUS-FNB months after the initial diagnosis of GIST. In conclusion, persistence of an endophytic mass despite treatment of a superficial disease like MALToma in this case, should prompt referral for EUS to obtain sub-epithelial tissue looking for a synchronous tumor. This was a rare combination of two unusual gastric tumors-MALToma and GIST- with a good outcome.Figure: Abdominal CT (upper images) shows gastric mass on the greater curvature measuring 2.7X2.3 cm. EGD (bottom left) shows 2x3 cm mass within the proximal stomach with central umbilication. EGD biopsy from the mass (bottom right) shows lymphoplasmacytic infiltrate in the lamina propria consistent with MALToma as clonality studies showed monoclonal B cell population.Figure: EUS (left) shows sub epithelial mass measuring 2x1.5cm arising from the muscularis propria. EUS-guided FNB (right) showed uniform spindle cells in a fascicular growth appearance consistent with GIST as immunostaining was positive for CD117.

Gastrointestinal Stromal Tumor at Ampulla of Vater Presented With Upper Gastrointestinal Bleeding

Gastrointestinal stromal tumors (GISTs) is a mesenchymal tumor accounted for only one percent of primary GI cancer. An estimated 4,000 to 6,000 new cases of GISTs are diagnosed annually in the United States. Common locations of tumor are stomach and small intestine. GISTs at ampulla of Vater is extremely rare of only 12 cases per literature review. We presented the rare case of GISTs at ampulla of Vater presented with upper gastrointestinal bleeding. Sixty five years old female with history of diverticulitis status post laparoscopic sigmoidectomy, and gastroparesis presented with melena for 2 weeks. Upper endoscopy showed submucosal mass at the Ampulla of Vater (Figure 1). Biopsy showed normal duodenum. CT abdomen showed common bile duct dilation and 1 cm soft tissue nodule with peripheral enhancement within the third portion of duodenum. Endoscopic ultrasound confirmed submucosal mass (Figure 2), but the fine needle biopsy was complicated with bleeding, and the biopsy showed normal duodenum. ERCP with stent was placed in common bile duct to relieve the obstruction (Figure 3). MRI abdomen showed enhancing 1.7 x 1.5 cm mass within the periampullary region. She was referred to surgery. Open pancreatic sleeve duodenectomy was perfomed. Pathology revealed 2.3 cm GISTs with free margin and positive for CD 117, CD 34 and smooth muscle actin, negative for S100. No mitosis per fifty high power fields reported. No adjuvant chemotherapy is indicated. Melena is a common presentation of GISTs. However, diagnosis can be difficult because it is a submucosal mass which causes obtaining biopsy problematic. This patient was proved to have GISTs by expression of CD 117 which differentiate GISTs from leiomyoma and leiomyosarcoma. From previous reports, ulcerative lesion is concomitant findings in several cases but not presented in our case. Although GISTs at ampulla of Vater are rare, GISTs should be included in the differential diagnosis especially if the mass has an enhancement per CT scan which is characteristic of GISTs. Overall, prognosis is less favorable for small intestinal GISTs. Literatures reviews show that GISTs at Ampulla of Vater has fair prognosis. Almost all of them has no metastasis or lymph node involvement. Only one case had liver metastasis and died from hepatic failure.Figure: Upper endoscopy showed mass at ampulla of Vater.Figure: Endoscopic ultrasound confirmed submucosal mass.Figure: Side view from ERCP with stent.

Giant oesophageal gastrointestinal stromal tumour presenting with dyspnoea and clubbed fingers

Gastrointestinal stromal tumours (GISTs) are mesenchymal neoplasms of the gastrointestinal tract originating from the interstitial cells of Cajal. Giant oesophageal GISTs are rare since the oesophagus is rarely the primary...

Primary greater omental GIST presenting with acute intra-abdominal haemorrhage

Primary omental gastrointestinal stromal tumours (GISTs) are classified as extra-GISTs with a reported incidence of <1% of all GISTs. There are only a few cases in the English literature reporting...

Clinicopathologic features, management and outcome of ten cases of gastrointestinal stromal tumors

Background and objectives: Gastrointestinal stromal tumor (GISTs) is an uncommon and rare disease in Bangladesh. Our aims were to describe socio-demographic characteristics, clinical presentations, anatomical location, morphological variation, treatment and outcome of GIST in ten cases.Methods: This study included consecutive ten cases of GISTs diagnosed and treated in two tertiary level hospitals in Dhaka, Bangladesh from 2013 to 2016. Patients’ socio-demographic characteristics, clinical presentations, anatomical location, histological types, presence of CD117 markers were determined. Outcome of the treatment by surgical intervention and imatinib mesylate (400mg/day) were evalauted.Results: Total 10 patients were included in the study. Among them 6 were male and 4 were female. The age range was 32-74 years. Abdominal pain, haematemesis, melaena, haematochezia and anaemia were the most common presentation. One patient had dysphagia and another had features of subacute intestinal obstruction. Five patients had GIST in the stomach (50%), two had in colon and one in esophagus, duodenum and ileum respectively. CD 117 was positive in 8 cases, majority had spindly type cell with low mitotic figure. Imatinib therapy was given in all the cases except two patients. Disease recurrence in the form liver metastasis was found in two cases and both died. Disease free survival for more than 2 years was observed in 4 cases.Conclusion: Haematemesis and melaena were common presentation of GISTs. Stomach was the most common site for GISTs and majority had spindle type of cells and positive CD117 marker. Surgical intervention and imatinib therapy was found effective.IMC J Med Sci 2017; 11(2): 45-49

Getting the GIST: a pictorial review of the various patterns of presentation of gastrointestinal stromal tumors on imaging.

Gastrointestinal stromal tumors (GISTs), the most common mesenchymal tumors of the gastrointestinal tract, are a relatively recently described entity. Most exhibit a mutated tyrosine kinase receptor gene and in some capacity are treated by tyrosine kinase inhibitors. GISTs can occur across the age spectrum but are more common in patients older than 40 years. They exhibit a wide range of clinical presentations and imaging characteristics. All patterns of enhancement on contrast enhanced computed tomography (CECT) can be seen with GISTs, including hypoenhancing, isoenhancing, and hyperenhancing tumors. They can be large or small, endoluminal or exophytic. Clinical presentations include asymptomatic patients, nonspecific symptoms, obstruction, and bleeding. Bleeding can take the form of slow, intraluminal GI bleeding or massive intraperitoneal bleeding secondary to rupture and can be seen regardless of the enhancement pattern. Some can cavitate, ulcerate, rupture or cause fistulae. The radiologist's knowledge of the variety of combinations of presentations can narrow the differential diagnosis and ultimately lead to faster diagnosis and treatment.

Gastrointestinal stromal tumor presenting as perforative peritonitis

Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors arising from the muscularis propria of the gastrointestinal tract. Presenting features include abdominal mass (5%–50%), obstruction (5%), hemorrhage and rarely perforation (0.8%). This is a case report of an elderly male with a perforated jejunal GIST presenting as acute abdomen. GISTs exhibit an unpredictable behavior. Complete surgical excision with clear margins is the treatment of choice with adjuvant chemotherapy.

Primary gastrointestinal stromal tumour of the ileum pre-operatively diagnosed as an abdominal abscess.

The present case report described the acute presentation, diagnosis and management of a primary gastrointestinal stromal tumour (GIST) of the ileum. A male patient (age, 51 years) was admitted to Maggiore Hospital (Parma, Italy) due to presenting with fever, dysuria and lower abdominal pain. Ultrasonography and computed tomography showed a 7,5×5,5-cm pelvic mass containing air and purulent fluid indicative of an intraperitoneal abscess. The patient was subjected to diagnostic laparoscopy, which revealed a huge, soft cystic mass arising from the small bowel. The procedure was then converted to an open exploration through a midline incision. Ileal resection including a Meckel's diverticulum was performed. Macroscopic examination revealed that the cystic mass was filled with a large amount of pus, probably due to communication between the tumour mass and the small bowel lumen. In fact, the surgical specimen showed enteric leakage from the ileal mucosal ulcer into the tumour mass. Histopathology and immunohistochemistry of the abscess wall identified a spindle-cell mesenchymal-type, c-KIT-positive neoplasm. The post-operative course was uneventful and adjuvant imatinib mesylate was administered for 1 year. Follow-up by computed tomography demonstrated no tumour recurrence at 72 months after surgery.

Spontaneous perforation of jejunal gastrointestinal stromal tumour presenting with multiple intraperitoneal abscess cavities: a case report and review of literature

Gastrointestinal stromal tumours (GISTs) account for less than 1% of gastrointestinal tumours. Perforation of GIST is very rare (0.8%) and it is infrequently described in the literature. We report a case of 53 years old gentleman who had spontaneous perforation of jejunal GIST with multiple intraperitoneal abscess cavities which is unique and extremely rare.

Gastrointestinal stromal tumours (GISTs): an insight into clinical practice with review of literature

BackgroundGastrointestinal stromal tumours (GISTs) are rare mesenchymal tumours of the gastrointestinal tract. We retrospectively reviewed the clinical management of all patients with GIST presenting to a regional multidisciplinary upper gastrointestinal...

Two Cases of Gastrointestinal Stromal Tumour Presenting Uncommonly as Intraperitoneal Rupture in Patients Prescribed Warfarin

Two Cases of Gastrointestinal Stromal Tumour Presenting Uncommonly as Intraperitoneal Rupture in Patients Prescribed Warfarin

Rupture of gastrointestinal stromal tumor presenting with sudden onset chest and back pain and accompanied by gastric dilatation

A 72-year-old man with hypertension was admitted with acute-onset chest and back pain followed by epigastralgia. He was transported by helicopter due to suspected acute aortic dissection. Systolic blood pressures were equal in both arms. Physical examination showed epigastric tenderness without rebound. Blood tests showed leukocytosis. Electrocardiogram and echocardiogram were normal. Abdominal radiography showed acute gastric dilatation with an air-outlined large mass-like shadow. Abdominal computed tomography revealed a 6-cm exophytic mass and large intramural hematoma in the lesser curvature of the gastric body. The patient underwent urgent laparotomy with total gastrectomy. The resected tumor showed positivity for CD117 and CD34 but negativity for S100, indicating a gastrointestinal stromal tumor. Fourteen days after the surgery, the patient was uneventfully discharged. Intramural bleeding of submucosal tumors including gastrointestinal stromal tumor should be considered in cases of acute gastric dilatation. Abdominal radiography may be a clue regarding the presence of this condition.

Gastrointestinal Stromal Tumors

The understanding of aberrant molecular pathways that result in gastrointestinal stromal tumors (GISTs) and the rapid development of molecular therapies that target these pathways represent one of the great milestones in translational oncology. The story of GIST is unique in that targeted molecular therapy was successfully applied in clinical therapeutics, with dramatic results redefining the management of these traditionally chemotherapy-resistant tumors. We briefly review the molecular biology and clinical presentation of GIST and then discuss the adjuvant and neoadjuvant use of tyrosine kinase inhibitors in early-stage GIST and their use in metastatic disease. Newer therapeutic advances in the rapidly changing field of GIST management are also discussed.

Diagnosis of gastrointestinal stromal tumor in a 25-year-old female presenting as huge abdominal mass and mandibular metastasis on fine needle aspiration cytology

Gastrointestinal stromal tumors (GISTs) are rare forms of mesenchymal tumors of the digestive tract. We present a case of 25-year-old female who presented with abdominal pain, vomiting and mandibular swelling. Buccal mucosa at the site of mandibular swelling was normal on histopathological examination. CT scan revealed a huge intra abdominal mass. Fine needle aspiration cytology (FNAC) was performed from the abdominal mass and mandibular swelling. It revealed similar morphology from both the sites, confirming metastasis of GIST to mandible. The highlight of this case was presentation of malignant GIST in a young female along with rare mandibular metastasis. Diagnosis by FNAC is rarely reported.

The experience of a referral centre and literature overview of GIST and carcinoid tumours in inflammatory bowel diseases

Patients suffering from Inflammatory Bowel Diseases (IBD) are at increased risk of developing cancers of the gastrointestinal tract (GI). Adenocarcinomas are the most commonly observed GI tumours in IBD, and occur through an in inflammation-driven pathway. A trend toward reduced risk of bowel cancers has been observed in IBD in recent years, presumably related to improved medical treatments. However, some cancers may be independent from active inflammation, probably originating from altered interactions between the extremely active immune system of IBD patients and environmental factors. Data concerning gastrointestinal stromal tumours (GIST) and carcinoids tumours (CaT) of the GI in IBD patients are scanty.We report our experience with these rare cancers, and provide the readers with an overview on the topic, focussing on distinguishing and peculiar features of GIST and CaT of the GI in IBD compared with other cancer types and with general population, and address the treatment of such challenging conditions. Available data do not support an increased risk of GIST in IBD patients, but GI CaT may be more commonly observed in Crohn's disease. However, the presentation of GIST and GI CaT is protean and does not seem to be associated with disease activity in the involved GI segment in IBD. Conversely, some evidences suggest a potential role of inflammation in sustaining GI CaT in IBD. Increased awareness, longer duration of disease, and improved diagnostic modalities should also be considered when evaluating the increasing trend of CaT in CD patients. Treatment of GIST and CaT is not dissimilar from that of non-IBD patients, but prompt suspicion and diagnosis are crucial to achieve optimal outcomes.

Management of Gastrointestinal Stromal Tumors

Gastrointestinal stromal tumors (GISTs) are the most common tumors of mesenchymal origin in the gastrointestinal tract. These tumors are believed to arise from the interstitial cells of Cajal. The oncogenic activation of KIT or platelet-derived growth factor receptor–α is common to these tumors, and GISTS are considered to be a successful model for rational development of personalized treatments against oncogenic driver mutations in cancer. This review covers the epidemiology, etiology and genetics, pathophysiology and pathogenesis, diagnosis, differential diagnosis, treatment, complications, and prognosis of GISTs. Figures show KIT primary and secondary mutations, the clinical and molecular progression of GISTs, a contrast-enhanced computed tomographic scan showing a gastric GIST presenting as a huge abdominal mass, a magnetic resonance image showing a rectal GIST at baseline and responding to neoadjuvant imatinib after 8 months of treatment, and hematoxylin-eosin stain of a fusocellular and an epithelioid GIST. Tables list demographics and clinical characteristics, associated genetic syndromes, relevant differential diagnosis, risk stratification systems used in GIST, and the comparative activity of approved regimens for GIST. This review contains 5 highly rendered figures, 5 tables, and 74 references.

Gut wall replacing type of gastrointestinal stromal tumor presenting as a perforation of the ileal diverticulum

Gastrointestinal stromal tumors (GISTs) usually form a well-circumscribed mass. Very rarely, however, sporadic GISTs show gut-wall replacing growth, similar to the diffuse hyperplasia of interstitial cells of Cajal (ICC) observed in patients with neurofibromatosis type 1 (NF1) and hereditary GIST. Here we describe a patient with ileal perforation caused by this unusual type of GIST. An 82-year-old man was admitted to the emergency department with sudden abdominal pain. Following a provisional diagnosis of perforation of Meckel's diverticulum, he underwent segmental resection of the small intestine. Macroscopic examination revealed a diverticulum-like structure 2.5cm in size near the site of mesenteric attachment of the ileum. Histological examination showed diffuse and nodular proliferation of spindle cells positive for c-KIT and CD34 that had replaced the muscularis propria of the small intestine. Mutational analyses of the lesions revealed monoclonality of proliferating cells with a somatic mutation in c-kit exon 11 (p.Leu576Pro). Gut-wall replacing type of GIST should be recognized as a specific type of GIST causing diverticulum-like structures of the gastrointestinal tract.

A Sporadic Small Jejunal GIST Presenting with Acute Lower Gastrointestinal Hemorrhage: A Review of the Literature and Management Guidelines.

Gastrointestinal stromal tumors (GISTs) represent the majority of primary nonepithelial neoplasms of the digestive tract, most frequently expressing the KIT protein detected by immunohistochemical staining for the CD117 antigen. Jejunal GISTs account for approximately 10% of GISTs. Patients usually present with abdominal discomfort. Jejunal GISTs may cause symptoms secondary to obstruction or hemorrhage. Pressure necrosis and ulceration of the overlying mucosa may cause gastrointestinal bleeding, and patients who experience significant blood loss may suffer from malaise and fatigue. Literature has classified small-bowel GISTs on the basis of size, and various established guidelines have advised conservative management of small jejunal GISTs (<2cm). We here report the clinical, macroscopic, and immunohistological features of a small jejunal GIST presenting with acute lower gastrointestinal hemorrhage in a 50-year-old postmenopausal woman necessitating an emergency laparotomy to control the bleed. The management of very small (<2cm) small-bowel GISTs is controversial. While guidelines are primarily based on the risk of malignancy in GISTs, no guideline predicting the risk of complications in small-bowel GISTs exists. Hence, these tumors should be removed even if incidentally detected.

A case of gastrointestinal bleeding secondary to a small bowel gastrointestinal stromal tumor before causing hemoperitoneum

Gastrointestinal stromal tumors (GISTs) is a rare stromal neoplasm that represent the most common mesenchymal tumor of the GI tract, accounting for 0.2% of all GI malignancies and 5% of all sarcomas. [1],[2] GIST originating from interstitial cells of Cajal, which are regulators of gut peristalsis, are preferentially located in the stomach and the small intestine. [3] It is characterized by indolent clinical symptoms including vague abdominal pain, weight loss, GI bleeding and obstruction, which is caused by the growing tumor. The usual presentation of GIST is a GI bleed. Acute presentation of GIST with features of hemoperitoneum has never been reported. We report an unusual case of small bowel GIST in which the patient presented with GI bleed before presenting as hemoperitoneum.

Gastrointestinal Stromal Tumors (GIST)—Paving the Way for Modern Oncology—Epidemiology, Diagnosis, Treatment

Gastrointestinal stromal tumors (GIST) are relatively rare tumors arising in the gastrointestinal tract. Clinical presentations of GIST are related to the site of origin, tumor size, and presence of ulceration. Surgery followed by adjuvant treatment with the BCR-ABL tyrosine kinase inhibitor, imatinib, for 3 years, in high-risk tumors is the only curative modality. Neoadjuvant treatment with imatinib may be considered in the setting of locally advanced primary borderline resectable/unresectable disease. Treatment with imatinib in patients with metastatic or unresectable disease is associated with significant improvements in overall survival (OS) from 18 to 57 months. In patients with metastatic disease, those responding to imatinib therapy may be considered for surgery and this may be beneficial if resection of the primary and metastatic disease is feasible and if imatinib is continued post resection. Other locoregional treatments such as radiofrequency ablation (RFA) and hepatic artery embolization (HAE) with or without chemotherapy may achieve long-lasting disease control and may be considered in highly selected patients. In patients with primary or secondary resistance to imatinib, second-line treatment with sunitinib and third-line treatment with regorafenib is recommended. However, despite all of these advances, few patients with metastatic disease are cured and further trials of novel agents or combinations are required.