Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Small bowel tumors are rare, accounting for 1-2% of all gastrointestinal neoplasms. We sought to determine the diagnostic and therapeutic impact of double-balloon enteroscopy (DBE) in patients with small bowel tumors. Between January 2005 and March 2008, 78 patients underwent 96 DBE. All nine patients (seven males; mean age 68 +/- 11.3 years) with small bowel tumors were retrospectively reviewed. Clinical presentation was: mid-gastrointestinal bleeding or iron-deficient anemia (55.6%); abdominal pain (22.2%); nausea/vomiting and abdominal distension (22.2%). Five patients had abnormal findings in previous capsule endoscopy and four in previous radiologic examinations. Route of insertion was exclusively oral and abnormal lesions were detected in all patients (jejunum 8; ileum 1). Biopsies were taken in seven patients and provided definitive histological diagnosis in all except one. There were no complications of DBE. Surgical resection took place in eight patients. Final histologic diagnosis were: primary carcinoma (33.3%), gastrointestinal stromal tumor (GIST) (33.3%), malignant lymphoma (22.2%), and carcinoid tumor (11.1%). Mean follow-up time was 15.4 +/- 12.7 months (range 2-34 months). Six patients were submitted to chemotherapy. Two patients died. Small bowel tumors are common in patients submitted to DBE. Given its safety and diagnostic capabilities, DBE should be considered the gold-standard method in the study of these neoplasms.
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PMID:Double-balloon enteroscopy and small bowel tumors: a South-European single-center experience. 1895 20

A 46-year-old Chinese woman presented with nausea, recurrent vomiting, and abdominal pain. Gastroduodenal endoscopic examination revealed an oval-shaped submucosal tumor at the prepyloric area on the posterior wall of the stomach. A degenerated gastrointestinal stromal tumor was suspected. Distal gastrectomy was performed and a histological diagnosis of heterotopic pancreas (HPs) was confirmed. The patient had an uneventful postoperative course and was discharged 7 d after operation. The patient remains healthy and symptom-free in the follow-up of 6 mo. This is a report of a case of gastric outlet obstruction resulting from pancreatic heterotopia in the gastric antrum in an adult woman.
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PMID:Gastric outlet obstruction caused by heterotopic pancreas: A case report and a quick review. 1903 86

Pseudoachalasia is a rare clinical entity with clinical, radiographic, and manometric features often indistinguishable from achalasia. Primary adenocarcinomas arising at the gastroesophageal junction or a tumor of the distal esophagus are the most frequent causes of pseudoachalasia. Rarely, processes other than esophagogastric cancers including chronic idiopathic intestinal pseudo-obstruction, amyloidosis, sarcoidosis, Chagas' disease, vagotomy, antireflux surgery, pancreatic pseudocysts, von Recklinghausen's neuroinomatosis, gastrointestinal stromal tumor, and other malignancies and rare genetic syndromes, may lead to the development of pseudoachalasia. Secondary achalasia is extremely rare, with less than 100 cases reported in the literature so far. Gastrointestinal manifestations in primary or secondary amyloidosis include abdominal pain, diarrhea, constipation, malabsorption, obstruction, motility disturbance, intestinal infarction, perforation, and hemorrhage; however, gastrointestinal tract involvement is asymptomatic in most instances. We present here a rare case of multiple myeloma initially presenting with dysphagia because of esophageal amyloidosis and manometric findings typical of achalasia.
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PMID:A rare case of multiple myeloma initially presenting with pseudoachalasia. 1920 46

Gastrointestinal stromal tumours (GISTs) are sarcomas arising in the gastrointestinal tract. They are characterised by a gain in function mutation of the KIT oncogene and the majority express the receptor tyrosine kinase KIT, which can be detected by the immunohistochemical stain CD117. Patients with a GIST present with symptoms such as abdominal pain or gastrointestinal bleeding, or may be asymptomatic. We describe the clinical history and pathological features of a patient with a GIST who presented with a paratesticular mass which, to our knowledge, has never previously been reported. With the development of new drugs to treat GISTs, the knowledge of the type of mutations may in the future prove helpful in determining optimal treatment strategies and prognosis.
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PMID:Gastrointestinal stromal tumour with a KIT exon 11 mutation presenting as a paratesticular mass. 1938 57

Spontaneous rupture of gastrointestinal stromal tumor (GIST) with hemoperitoneum is an extremely rare clinical presentation of this mesenchymal tumor. We report the unusual case of a 68-year-old man who was admitted to the hospital with abdominal pain. While waiting for the results of his laboratory tests the patient became pale and tachycardic and his abdomen distended with generalized rebound tenderness. A CT scan suggested rupture of a cavernous angioma of the liver and the patient was brought to the operating room for an explorative laparoscopy, which revealed hemoperitoneum from a ruptured giant gastric GIST. After conversion to laparotomy, the tumor was excised: it was 11 x 10 x 5 cm in size, with massive necrosis and clotted blood inside. Immunohistochemical examination revealed reactivity to c-KIT and CD34, consistent with the diagnostic criteria for GIST, with low mitotic activity (< 5/50 HPF). The postoperative course was uneventful, and the clinical and radiological follow-up at 6 months is negative for recurrence.
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PMID:Spontaneous rupture of giant gastric GIST presenting as hemoperitoneum and mimicking cavernous liver angioma. 1957 71

Heterotopic pancreas is defined as pancreatic tissue found outside the usual anatomical location of the pancreas. It is often an incidental finding and can be found at different sites in the gastrointestinal tract. It may become clinically evident when complicated by pathological changes such as inflammation, bleeding, obstruction, and malignant transformation. In this report, a 60-year-old man with carcinoid syndrome caused by heterotopic pancreatic tissue in the duodenum is described, along with a 62-year-old man with abdominal pain caused by heterotopic pancreatic tissue in the gastric antrum. The difficulty of making an accurate diagnosis is highlighted. The patients remain healthy and symptom-free after follow-up of 1 year. Frozen sections may help in deciding the extent of resection intraoperatively. Although heterotopic pancreas is rare, it should be considered in the differential diagnosis of gastrointestinal stromal tumor.
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PMID:Heterotopic pancreas in the gastrointestinal tract. 1965 55

We report a case of jejunoileal intussusception in a 42-year-old patient with Crohn's disease caused by a gastrointestinal stromal tumor. The patient complained of vague diffuse abdominal pain for a period of 4 mo. Intussusception was suspected at computer tomography and magnetic resonance imaging scans. Segmental resection of the small intestine was performed. Pathological examination of the surgical specimen revealed a gastrointestinal stromal tumor as well as aphthous ulcerations and areas of inflammation, which were characteristic of Crohn's disease. This is the first report of small bowel intussusception due to a gastrointestinal stromal tumor coexisting with Crohn's disease.
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PMID:Gastrointestinal stromal tumor causing small bowel intussusception in a patient with Crohn's disease. 1989 Oct 25

The author herein reports histopathologic features of 31 surgical cases of gastrointestinal stromal tumor (GIST) of the digestive organs. The 31 cases of GIST were diagnosed in our pathology laboratory. They consisted of 24 cases of gastric GIST, 1 case of hepatic GIST, 1 case of small intestinal GIST, 4 cases of colon GIST, and 1 case of rectal GIST. The age of the patients ranged from 56 year to 84 years with a mean of 71 years. Male to female ratio was 21:10. The presenting symptoms were gastrointestinal bleeding in 13 cases, abdominal pain and discomfort in 13 cases, and asymptomatic in 5 cases. Endoscopy and imaging modalities including US, CT and MRI were useful to detect the tumors in all cases, and biopsies confirmed the GIST diagnosis in 21 cases. The size of GIST ranged from 1 cm to 12 cm with a mean of 4.3 cm. Grossly, 23 cases were submucosal tumors, 6 serosa-side tumors, 1 solid tumor in the liver, and 1 rectal polyp. Histologically, 28 cases were of spindle cell type and 3 of epithelioid type. According to mitotic counts and tumor size, the malignant risk was very low in 4 cases, low in 14 cases, intermediate in 9 cases, and high in 4 cases. Immunohistochemically, all cases were positive for KIT and vimentin, 30 cases for CD34, and 4 cases for alpha-smooth muscle actin. None were positive for desmin and S100 protein. Ki-67 labeling ranged from 2% to 18%. P53 protein was negative in all cases. PDGFRA was positive in 20 cases among 24 cases examined. Genetic analysis using PCR-direct sequencing method was performed in 5 GISTs; all the 5 GISTs showed point mutations or deletions in KIT gene, but did not in PDGFRA gene. The 5 cases of GIST were positive for PDGFRA protein, suggesting that PDGFRA overexpression is not associated with PDGFRA gene mutations. Four of the 31 cases showed metastases. The chemotherapy was imatinib mesylate in 6 cases, and none in 25 cases. Four cases of high risk died of GIST, and 27 cases are alive now without tumors.
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PMID:Gastrointestinal stromal tumor of the digestive organs: a histopathologic study of 31 cases in a single Japanese institute. 2012 84

On December 19, 2008, the U.S. Food and Drug Administration approved imatinib mesylate tablets for oral use (Gleevec(R); Novartis Pharmaceuticals Corporation, East Hanover, NJ) for the adjuvant treatment of adult patients following complete gross resection of Kit(+) (CD117(+)) gastrointestinal stromal tumor (GIST). A randomized, double-blind, placebo-controlled study enrolling 713 patients was submitted. The primary objective of the clinical trial was to compare the recurrence-free survival (RFS) intervals of the two groups. Overall survival (OS) was a secondary endpoint. Eligible patients were > or =18 years of age with a histological diagnosis of GIST (Kit(+)), resected tumor size > or =3 cm, and a complete gross resection within 14-70 days prior to registration. Imatinib, 400 mg orally, was administered once daily for 1 year. The study was terminated after completion of the third protocol-specified interim analysis. At that time, 100 RFS events were confirmed by a blinded central independent review. With a median follow-up of 14 months, 30 RFS events were observed in the imatinib group and 70 were observed in the placebo group (hazard ratio, 0.398; 95% confidence interval, 0.259-0.610; two-sided p-value < .0001). OS results are immature. Most patients in both groups experienced at least one adverse reaction, and 31% of the imatinib group and 18% of the placebo group experienced grade > or =3 adverse reactions. The most frequently reported adverse reactions (> or =20%) were diarrhea, fatigue, nausea, edema, decreased hemoglobin, rash, vomiting, and abdominal pain. Drug was discontinued for adverse reactions in 17% and 3% of the imatinib and placebo-treated patients, respectively.
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PMID:Approval summary: imatinib mesylate in the adjuvant treatment of malignant gastrointestinal stromal tumors. 2020 41

An 18-year-old girl presented with abdominal pain and a tumor was subsequently detected in the jejunum. We therefore carried out a wedge resection of the jejunum. The diagnosis of GIST was confirmed histologically, and a mutation in exon 9 of the c-kit gene was observed. GISTs are rare in pediatric populations and pediatric GISTs occur predominantly in females and are characterized by a multifocal gastric location and a wild-type phenotype for the c-kit genes. The features of pediatric GISTs of the small intestine have not yet been categorized, and to date, only 11 cases in patients younger than 18 years have been reported. These cases did not occur primarily in females and tended to present as single tumors with mutations in the c-kit gene. This suggests that these cases do not have the same features as pediatric gastric GISTs, but instead are similar to adult GISTs. In pediatric populations, GISTs of the small intestine were expected to show a better response to imatinib treatment than gastric GISTs because of the alterations in the c-kit gene.
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PMID:Gastrointestinal stromal tumors of the small intestine in pediatric populations: a case report and literature review. 2040 78


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