Gastric stromal tumor--a rare cause of an upper gastrointestinal bleeding

Gastrointestinal stromal tumors (GISTs) are rare neoplasms arising from connective tissue elements of the gastrointestinal wall. They show a great heterogeneity with respect to their histogenetic, morphologic and prognostic characteristics. GISTs are known with myoid, neural or mixed features of differentiation. Clinical findings are gastrointestinal bleeding, abdominal pain and weight loss. We report on the case of a 50-year-old male patient who presented with melena and acute anemia (hemoglobin 10.5 g/dl). Esophagogastroduodenoscopy revealed a broad-based, centrally ulcerated polypoid formation of 3 cm in the gastric corpus as the cause of the upper gastrointestinal bleeding. Multiple endoscopic biopsies were negative for neoplastic changes. Because of no tendency of healing after triple eradication therapy of Helicobacter pylori and following proton pump inhibitor medication, the patient underwent distal gastrectomy with gastrojejunostomy. GIST of combined smooth muscle and neural type was diagnosed by histological and immunohistochemical examination. The features with increased mitotic activity and cellularity were those of a borderline stromal tumor. 6 months after surgery the patient is well with no signs of residual malignancy. This case demonstrates that rare stromal neoplasms have to be taken into account in the differential diagnosis of gastrointestinal tumors even if endoscopic biopsies are negative for neoplastic changes. Because of the uncertain biological behavior of the GISTs an early surgical intervention is recommended.     

Laparoscopic resection of gastric gastrointestinal stromal tumors presenting as left adrenal tumors

Gastrointestinal stromal tumors (GISTs) are rare gastrointestinal malignancies. They are rarely seen near the urinary tract. In a literature review, only one case of GIST presenting as a left adrenal tumor was reported. We report two documented cases of gastric GISTs mimicking left adrenal tumors which were successfully treated with pure laparoscopic adrenalectomy and wedge resection of the stomach by excising the tumor from the stomach with serial firing of endoscopic gastrointestinal staplers. The surgical margins were clear, and the patients recovered smoothly. No adjuvant therapy with imatinib was prescribed. During the surveillance for 9 mo and 44 mo respectively, no tumor recurrence and metastasis were documented. Laparoscopic tumor excision, when adhering to the principles of surgical oncology, seems feasible and the prognosis is favorable for such tumors.     

Long-term survival after enucleation of a giant esophageal gastrointestinal stromal tumor

Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasms of the gastrointestinal tract. Less than 1% occurs in the esophagus. Surgery is the primary treatment for patients with GISTs. We report a 29-year-old male was admitted after the detection of a posterior mediastinal mass during work-up with routine examination. He did not have any disease-related symptoms. The physical examination was unremarkable. Chest computed tomographic scan, the barium esophagogram and endoscopic esophageal ultrasound showed benign neoplasm. The patient was performed an enucleation surgery through the right posterolateral thoracotomy. The pathology revealed a 13.0 cm × 12.0 cm × 5.0 cm mass. The tumor was CD117 (C-kit), PDGFRA and DOG1 positive. These findings were consistent with a GIST of the esophagus. So the diagnosis of GIST of esophagus was confirmed. The pathological diagnosis of low grade of GIST of esophagus was confirmed. The patient has no evidence of recurrence and is in good clinical conditions up-to date, five years after surgery.     

Endosonographic diagnosis of recurrent gastrointestinal stromal tumors associated with Carney's syndrome

This is a report of a patient who manifests all of the features of Carney's syndrome, including gastrointestinal stromal tumors (GISTs), extra-adrenal paragangliomas, and pulmonary chondromas. The patient underwent surgical resection of a gastric GIST; a retroperitoneal, nonfunctional paraganglioma; and a mediastinal, catecholamine-secreting paraganglioma (pheochromocytoma). Recently, new gastric GISTs were diagnosed by endoscopic, ultrasound-guided, fine-needle aspiration (EUS-FNA) biopsy and were resected. Recurrence of stromal tumors following complete resection is common in Carney's syndrome and presents considerable management challenges. This case illustrates several important points: (1) Carney's syndrome, although rare, should be considered in patients with foregut GISTs; (2) GISTs associated with Carney's syndrome, like sporadic gastric GISTs, may have a more indolent clinical course; and (3) EUS-FNA may be useful for the diagnosis and management of GISTs in this syndrome.     

A case of multiple gastrointestinal stromal tumor of the jejunum which was diagnosed by capsule endoscopy

More than 90% cases of chronic gastrointestinal bleeding can be diagnosed by upper endoscopy and/or colonoscopy, and therefore, obscure gastrointestinal bleeding has been defined as bleeding of unknown origin that persists after these conventional endoscopic evaluation. Gastrointestinal stromal tumors (GISTs) are rare tumors, but the most common form of mesenchymal tumors of the gastrointestinal tract. Small bowel is the second most common primary site for GISTs, and accounts for 2-10% of chronic bleeding sites. GISTs usually present as a sporadic and solitary tumor, and a minority of the cases of multiple GISTs are discovered as forms of hereditary or idiopathic tumor syndromes. Small bowel tumor has been difficult to diagnose because of absence of accurate and proper diagnostic tools. Recently developed wireless capsule endoscopy helps in the diagnostic work-up of small bowel diseases. We report a case of multiple jejunal GISTs presenting melena in a 39-year-old male, which was diagnosed with wireless capsule endoscopy.     

Isolated abdominal wound metastasis from a gastrointestinal stromal tumor

BACKGROUND: Gastrointestinal stromal tumors (GIST) frequently recur even after complete resection. The typical pattern of failure from GISTs is both local and distant with hepatic and peritoneal metastases being most common. Isolated abdominal-wall recurrence from GISTs has not been previously described. AIM OF THE STUDY: To report an isolated abdominal-wound recurrence in the absence of widespread disease in a patient with GIST. METHODS: Case report of a GIST and isolated abdominal-wound recurrence after laparoscopic-assisted en bloc resection. RESULTS: Elderly male patient presented with an isolated abdominal wall incisional recurrence 18 mo after gastric resection and adjuvant imatinib mesylate therapy for a high-grade GIST. CONCLUSIONS: Complete resection of gastrointestinal stromal tumors followed by imatinib therapy may alter the extent of recurrence.     

Gastrointestinal stromal tumor of the ampulla of Vater:A case report

Gastrointestinal stromal tumors(GISTs)usually develop in the stomach and small intestine and only rarely occur at the ampulla of Vater,with only 11 cases reported in the literature.We report a case of a GIST of the ampulla of Vater.A 36-year-old,previously healthy man presented with a loss of consciousness lasting a few minutes.A gastroduodenal endoscopy revealed a submucosal tumor with central ulceration at the ampulla of Vater.The enhanced computed tomography scan revealed a smooth-outlined hypervascular solid mass(24 mm×30 mm)in the second part of the duodenum.Neither lymphadenopathy nor metastasis was observed.Magnetic resonance cholangiopancreatography and endoscopic retrograde cholangiopancreatography showed normal bile and pancreatic ducts.Biopsies were collected from the ulcerative lesion,and the tumor was diagnosed as a GIST.A submucosal tumor with central ulceration may be a characteristic form of GISTs of the ampulla of Vater,and biopsy studies are useful for the diagnosing such tumors.The patient underwent pancreatoduodenectomy,and the operative specimen revealed a 2.2-cm GIST with 1 mitosis per 50 highpower fields.The gold standard for treatment of GISTs is surgical resection without rupture of a capsule.If technically possible,local resection may be considered.However,when the location of the lesion presents challenges,a pancreatoduodenectomy should be performed for GIST of the ampulla of Vater.     

Gastrointestinal stromal tumors: review on morphology, molecular pathology, diagnostics, prognosis and treatment options

Gastrointestinal stromal tumors (GISTs) are the most common non-epithelial mesenchymal tumors of the gastrointestinal tract. GISTs represent a specific group of mesenchymal tumors with uncertain biological behaviors. These tumors are assumed to originate from progenitor cells, usually unable to self-regenerate, which differentiate towards Cajal cells. Apart from common GISTs that occur predominantly in adulthood, a heterogeneous group of tumors has been described that are morphologically identical with GIST, but have a specific clinical presentation and biological properties. Approximately 30% of newly diagnosed GISTs are malignant or have a high potential for malignancy. Currently, GISTs are routinely identified with histological, immunohistochemical, and molecular genetic assays. However, clinical diagnoses, particularly of small or intramural GISTs, might be difficult. The most useful techniques for imaging and monitoring disease progression are endoscopic examinations and fused PET/CT imaging. Surgical treatment is the first-line treatment and the only method that might lead to full remission in patients with a primary GIST. There is currently no consensus on the issues of whether to perform resections in patients with positive margins or resections of metastases. Endoscopic resection could represent a relatively simple and less aggressive alternative as compared to traditional surgery in the treatment of small sized GISTs. Biological therapy with imatinib mesylate is recommended for patients with newly diagnosed, locally advanced, inoperable, or metastasizing gastrointestinal GISTs that express the c-KIT protein. Treatment may reduce a primary tumor to a size small enough for surgical excision. Current research is focusing on the development of new therapies for the treatment of advanced disease and/or disease prophylaxis.     

Gastrointestinal stromal tumor of the stomach with axillary lymph node metastasis: A case report

Gastrointestinal stromal tumors (GISTs) are the most common type of gastrointestinal mesenchymal tumors, although metastasis to the perigastric lymph nodes is relatively rare, compared with liver or peritoneal metastasis. In this report, we describe a case of stomach GIST with a solitary simultaneous metastasis in the left axillary lymph node. A 68-year-old man was diagnosed with a large upper-stomach GIST, and computed tomography and positron emission tomography revealed masses in the left axilla and right mediastinum. We did not detect evidence of metastases to the liver, or other sites including the perigastric lymph nodes, although findings from the surgically resected axillary lymph nodes were compatible with GIST metastasis. Treatment using imatinib markedly reduced the gastric and mediastinal lesions, and this response persisted for 3 years. The patient subsequently experienced rapid growth of the gastric lesion without mediastinal or axilla recurrence, which required palliative surgery. Despite continuing medical treatment(sunitinib and regorafenib), the patient died of liver metastases 23 mo after the surgery. Based on our findings, it appears that the axillary lymph nodes can be a potential metastatic site for GIST metastasis.     

Perivascular epithelioid cell tumor of the liver coexisting with a gastrointestinal stromal tumor

Approximately 10% of patients with gastrointestinal stromal tumors （GIST）develop other neoplasms, either synchronously or metachronously. In this report we describe coexistence of a gastrointestinal stromal tumor and a hepatic perivascular epithelioid cell tumor （PEComa） in a 51-year-old woman with no evidence of tuberous sclerosis. A subcapsular hepatic nodule （0.8 cm in diameter） was found during surgery for symptomatic gastric neoplasm （15 cm in diameter） arising from the lesser curvature. Both tumors revealed histomorphological and immunohistochemical features confirming a diagnosis of a small incidental hepatic PEComa and a high risky extramural gastric GIST, respectively. The patient remained disease-free 25 mo after surgery with no evidence of tumor recurrence or new neoplasms. To our knowledge, this is the first report of PEComa in a patient with GIST. Hepatic lesions detected synchronously or metachronously in patients with GISTs may represent histogenetically distinct lesions and should be sampled to confirm or exclude metastatic GISTs.     

A case of a duodenal gastrointestinal stromal tumor diagnosed with the aid of diffusion-weighted magnetic resonance imaging

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumor of gastrointestinal tract, and bleeding is among the primary symptoms. If the tumor is located in the small intestine, diagnosis might be difficult because of its inaccessibility by endoscope. This report presents a case of duodenal GIST diagnosed with the aid of diffusion-weighted (DW) magnetic resonance imaging (MRI). A 66-year-old male was admitted to the hospital because of shortness of breath and melena. The patient demonstrated marked anemia. Esophagogastroduodenoscopy and colonoscopy revealed no involvement of the mucosa of the gastrointestinal tract in regard to the observed bleeding. Thereafter, computed tomography was done and showed a tumorous lesion 4.2 cm in diameter located around the ligament of Treitz. The area showed significant high intensity by DW-MRI, strongly suggesting malignant character. Examination with a long endoscope demonstrated a large submucosal tumor with wide ulceration located at the third portion of the duodenum. The biopsy sample contained spindle-shaped cells that were positive for CD34 and c-kit on histochemistry, and the tumor was diagnosed as GIST. The patient underwent surgery and survived for 16 months without any recurrence.     

Malignant extra-gastrointestinal stromal tumor of the pancreas:Report of two cases and review of the literature

Gastrointestinal stromal tumors(GISTs)are mesenchymal tumors that arise from the gastrointestinal tract.In rare cases,these tumors are found in intra-abdominal sites unrelated to the gastrointestinal tract,such as the mesentery,omentum and retroperitoneum.However,pancreatic extra-gastrointestinal stromal tumors are extremely rare,with only 14 previous cases reported.A 61-year-old man with no clinical symptoms had a routine check-up,during which an abdominal mass located in the pancreas tail was detected.Abdominal surgery was performed with resection of the pancreas tail and the spleen,and he was diagnosed with lowrisk GISTs.Another 60-year-old man with no clinical symptoms underwent Computed tomography which revealed a well-demarcated tumor,6 cm in diameter,in the head of the pancreas.He was diagnosed with pancreatic GISTs.Here,we describe two rare cases of pancreatic GISTs and review the cases previously reported in the literature.     

Concomitant gastric adenocarcinoma and stromal tumor in a woman with polymyalgia rheumatica

Gastrointestinal stromal tumors （GISTs） are rare neoplasms （1%） of the gastrointestinal tract and to our knowledge only rare cases of synchronous presentation of gastric carcinomas and GISTs are reported in the literature. A 72-year-old female with a simultaneous presentation of gastric adenocarcinoma and GIST is presented. Moreover, due to polymyalgia rheumatica the patient received corticosteroids as treatment for the last 3 years. The concomitant occurrence of these neoplasms may involve common carcinogenic factors and there could be an association with polymyalgia rheumatica either as a paraneoplastic presentation or due to its treatment with corticosteroids.     

Current treatment strategies and future perspectives for gastrointestinal stromal tumors

Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors that originate from the gastrointestinal tract, mostly from the stomach. GISTs are derived from the myenteric interstitial cells of Cajal and are caused by several mutations in the c-kit and platelet-derived growth factor receptor genes. Clinically, GISTs are detected by endoscopic and imaging findings and are diagnosed by immunostaining. Surgery is the first line of treatment, and if the tumor is relatively small, minimally invasive surgery such as laparoscopy is performed. In recent years, neoadjuvant therapy has been administered to patients with GISTs that are suspected of having a large size or infiltration to other organs. Postoperative adjuvant imatinib is the standard therapy for high-risk GISTs. It is important to assess the risk of recurrence after GIST resection. However, the effect of tyrosine kinase inhibitor use will vary by the mutation of c-kit genes and the site of mutation. Furthermore, information regarding gene mutation is indispensable when considering the treatment policy for recurrent GISTs. This article reviews the clinicopathological characteristics of GISTs along with the minimally invasive and multidisciplinary treatment options available for these tumors. The future perspectives for diagnostic and treatment approaches for these tumors have also been discussed.     

Endoscopic ultrasound-guided fine-needle aspiration for diagnosing a rare extraluminal duodenal gastrointestinal tumor

Duodenal gastrointestinal stromal tumors(GISTs) are extremely rare disease entities, and the extraluminal type is difficult to diagnose. These tumors have been misdiagnosed as pancreatic tumors; hence, pancreaticoduodenectomy has been performed, although partial duodenectomy can be performed if accurately diagnosed. Developing a diagnostic methodology including endoscopic ultrasonography(EUS) and fine-needle aspiration(FNA) has allowed us to diagnose the tumor directly through the duodenum. Here, we present a case of a 50-year-old woman with a 27-mm diameter tumor in the pancreatic uncus on computed tomography scan. EUS showed a well-defined hypoechoic mass in the pancreatic uncus that connected to the duodenal proper muscular layer and was followed by endoscopic ultrasoundguided fine-needle aspiration(EUS-FNA). Histological examination showed spindle-shaped tumor cells positively stained for c-kit. Based on these findings, the tumor was finally diagnosed as a duodenal GIST of the extraluminal type, and the patient underwent successful mass resection with partial resection of the duodenum. This case suggests that EUS and EUS-FNA are effective for diagnosing the extraluminal type of duodenal GISTs, which is difficult to differentiate from pancreatic head tumor, and for performing the correct surgical procedure.     

Giant gastrointestinal stromal tumour of rare sarcomatoid epithelioid subtype:Case study and literature review

Gastrointestinal stromal tumours(GISTs) are the most common mesenchymal tumours of the gastrointestinal tract,but they represent less than 3% of all gastrointestinal tract malignancies.This is a detailed case study of a 52-yearold male patient treated for very uncommon histological subtype of gastric GIST with atypical clinical presentation,asymptomatic progress and late diagnosis.The resected tumour,giant in diameters,was confirmed to represent the most rare histopathologic subtype of GISTs- sarcomatoid epithelioid GIST.We report this case and review the literature with a special focus on pathomorphological evaluation,biological aggressiveness and prognostic factors.To our knowledge this is the first report of giant GIST of very uncommon sarcomatoid epithelioid subtype.It is concluded that clinicians should pay attention to the fact that initial diagnosis may be delayed due to mildly asymptomatic and non-specific clinical presentation.Asymptomatic tumours diagnosed at a late stage,which is often the case,can be large on presentation.Prognosis for patients diagnosed with GIST depend on tumour size,mitotic rate,histopathologic subtype and tumour location.That is why early diagnosis and R0 resection,which is usually feasible and safe even in giant gastric sarcomatoid epithelioid subtype of GISTs,are the key factors for further treatment and good prognosis.     

Gastric gastrointestinal stromal tumor smaller than 20 mm with liver metastasis

There have been no reports of gastric gastrointestinal stromal tumors (GISTs) <20 mm with distant metastasis. We report a case of a 15-mm gastric GIST with liver metastasis 1 year after surgical resection of the primary lesion. A 35-year-old man underwent routine esophagogastroduodenoscopy in July 2009. A submucosal tumor (SMT) <20 mm was incidentally detected at the posterior wall of the gastric body. Endoscopic ultrasound (EUS) indicated that it was a gastrointestinal mesenchymal tumor, including GIST, leiomyoma or schwannoma. He did not accept regular follow-up for this gastric SMT, therefore local laparoscopic excision was carried out in October 2009. The final pathological diagnosis after surgery was GIST, 15 mm in size, and a mitotic rate of 7/50 high-power fields, which did not indicate a high metastatic risk. The patient was followed up regularly without adjuvant chemotherapy. At 1 year after surgery, a space-occupying lesion ~15 mm was detected in the left lobe of the liver by abdominal ultrasound, where no mass lesion had been observed before surgery. To make a definite diagnosis of the hepatic mass lesion, EUS-guided fine-needle aspiration was performed, which demonstrated a metastatic liver tumor from a gastric GIST. Although this was a rare case, we should keep in mind that gastric GISTs do have a chance of malignant behavior, even if <20 mm.     

Small gastrointestinal stromal tumor concomitant with early gastric cancer： A case report

The term gastrointestinal stromal tumors (GISTs)is defined diagnostically as the main group of mesenchymal tumors with spindle or epithelioid cells arising from the wall of the gastrointestinal tract with immunohistochemical reactivity for CD117 antibody.Previous studies revealed that cells in GISTs express a growth factor receptor with tyrosine kinase activity (termed c-kit), which is the product of the c-kit protooncogene. The most specific and practical diagnostic criteria for GISTs are: immunohistochemically determined c-kit (CD117) expression; mitotic score; and tumor size.A small GIST concomitant with early gastric cancer is rarely encountered clinically. Herein we have reported a case of a 1.1-cm GIST detected by esophagogastroduo denoscopy concomitant with a Ⅱc type of early gastric cancer (signet ring cell type). It was detected during a routine physical health examination. To our knowledge,this is the first report of a small GIST concomitant with a signet ring cell type of early gastric cancer.     

Mixed spindle and epithelioid cell type gastrointestinal stromal tumor of the esophagus: a case report

Fewer than 1 % of gastrointestinal stromal tumors (GISTs) are of the esophagus. This report describes a 63-year-old female diagnosed with mixed spindle/epithelioid cell GIST of the esophagus. She was admitted to our hospital with symptoms of nausea and hematemesis. Preoperative imaging showed a huge submucosal tumor in the lower thoracic and abdominal esophagus. Pathologic examination of an endoscopic biopsy sample suggested squamous cell carcinoma. She underwent subtotal esophagectomy and reconstruction with a gastric tube. Postoperative pathological diagnosis revealed a mixed spindle/epithelioid cell type GIST. The tumor measured 8 × 6 cm, with 30–50 mitotic counts per high power field, immunohistochemical positivity for C-kit (CD117) and CD34 and high risk by modified Fletcher classification. Adjuvant chemotherapy with imatinib mesylate was started 3 months after surgery. Preoperative pathological examination, including staining for CD117 and CD34, of biopsy samples of apparently stromal tumors may be required to rule out rare subtypes of GIST.     

Current clinical management of gastrointestinal stromal tumor

Gastrointestinal stromal tumors(GISTs) are the most common malignant subepithelial lesions(SELs) of the gastrointestinal tract. They originate from the interstitial cells of Cajal located within the muscle layer and are characterized by over-expression of the tyrosine kinase receptor KIT. Pathologically, diagnosis of a GIST relies on morphology and immunohistochemistry [KIT and/or discovered on gastrointestinal stromal tumor 1(DOG1) is generally positive]. The prognosis of this disease is associated with the tumor size and mitotic index. The standard treatment of a GIST without metastasis is surgical resection. A GIST with metastasis is usually only treated by tyrosine kinase inhibitors without radical cure; thus, early diagnosis is the only way to improve its prognosis. However, a GIST is usually detected as a SEL during endoscopy, and many benign and malignant conditions may manifest as SELs. Conventional endoscopic biopsy is difficult for tumors without ulceration. Most SELs have therefore been managed without a histological diagnosis. However, a favorable prognosis of a GIST is associated with early histological diagnosis and R0 resection. Endoscopic ultrasonography(EUS) and EUS-guided fine needle aspiration(EUSFNA) are critical for an accurate diagnosis of SELs. EUSFNA is safe and effective in enabling an early histological diagnosis and adequate treatment. This review outlines the current evidence for the diagnosis and management of GISTs, with an emphasis on early management of small SELs.