Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0021843 (bowel obstruction)
 9,927 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The nonepithelial, nonlymphoid tumors of the gastrointestinal tract are heterogeneous in terms of clinical presentation, behavior, pathology, and genetic features. Concepts regarding these tumors have changed rapidly over the past decade as nomenclature has evolved. Many of these tumors have no muscle differentiation, and designations such as leiomyoma or leiomyosarcoma are inappropriate for many of these neoplasms. With an improved understanding of the biology of these tumors, gastrointestinal stromal tumor (GIST) is used as a specific term for tumors of the gastrointestinal tract that lack markers of myogenic differentiation, but stain positive for vimentin, and express CD34 and CD117, the product of the c-kit oncogene. Both benign and malignant types are recognized. In addition to myogenic tumors and GIST, gastrointestinal autonomic nerve tumors (GANT) are also recognized. Complete en bloc surgical resection, when possible, is the cornerstone of therapy. Metastasis tends to occur to the liver and within the peritoneal cavity, especially in patients whose tumors have ruptured spontaneously or been violated by the surgeon. Incomplete surgical resection and metastatic disease indicate a dismal prognosis in the majority of patients. Recurrent or metastatic disease is often resected, but this has an uncertain impact on outcome. Operation may palliate patients with intestinal obstruction or other symptoms. For patients with unresectable disease, the results with systemic chemotherapy have been dismal. Treatment with doxorubicin/ifosfamide combinations is of dubious value. Hepatic arterial embolization, with and without intra-arterial chemotherapy, results in regression of liver metastases in selected patients. Regression has also been seen using intrahepatic arterial infusion of doxorubicin without embolization. The impact of such treatment on outcome, however, is poorly studied. Aggressive surgical resection of peritoneal metastases with intraperitoneal chemotherapy has been advocated, but requires formal study in large trials.
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PMID:Gastrointestinal stromal tumors. 1205 70

Chronic idiopathic intestinal pseudo-obstruction is a syndrome in which symptoms of intestinal obstruction are present in the absence of mechanical obstruction. Lack of normal pacemaker activity, usually generated by the interstitial cells of Cajal (ICC), could account for the apparent obstruction. ICC are normally located around and between the myenteric plexus ganglia and within muscle and also in the deep muscular plexus of the small bowel and the submuscular plexus of the large intestine, just within the circular muscle. ICC can be demonstrated immunohistochemically with CD117 (c-kit) as well as with CD34, although this is less specific. CD34 also stains a population of fibroblasts that are intimately associated with ICC. To determine whether there is a relative deficiency of ICC and CD34-positive fibroblasts in patients with chronic idiopathic intestinal pseudo-obstruction, tissue from 30 patients of large intestine and eight patients with small intestine pseudo-obstruction was obtained. Controls (large intestinal specimens from 12 patients, small intestinal specimens from six patients) were chosen from resections for Crohn's disease and colorectal neoplasia, both with and without dilatation. Examination of pseudo-obstruction cases identified 10 patients (nine large intestinal and one small intestinal) in which both CD117 and CD34 were absent or severely reduced in all three of the examined areas. In contrast, the control cases, including those with preobstructive dilatation, showed relatively constant ICC staining. These results suggest that there is a proportion of pseudo-obstruction cases in which the ICC are markedly reduced. These results also demonstrate that, in these cases, loss of the kit immunoreactivity is correlated with the loss of CD34 staining: this indicates that both the ICC and the CD34-positive fibroblasts associated with the ICC are absent. These findings will allow surgical pathologists to identify this subpopulation of patients with CIIP using tissue obtained by laparoscopic biopsy of the muscularis propria or surgical resection.
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PMID:Loss of CD117 (c-kit)- and CD34-positive ICC and associated CD34-positive fibroblasts defines a subpopulation of chronic intestinal pseudo-obstruction. 1254 70

Gastrointestinal stromal tumor (GIST) is very rare in infancy. Most of the reported cases in the literature are in adults; some are in children but there are a few reported cases in the literature. The present case is a 6-day-old female neonate presenting with lethargy, poor feeding, constipation, abdominal distention, and rectal bleeding. She was operated on with the impression of intestinal obstruction, and right hemicolectomy was performed on her. Surgical specimen showed a well-defined and round 3-cm mass in the cecal area. Diagnosis was made by histologic and immunohistochemical studies which showed a GIST. The tumor showed positive vimentin and c-kit but negative for all other markers (desmin, actin, S100, NSE, and CD-34). So the case was an undifferentiated GIST. After 1 year of follow-up the patient was completely normal.
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PMID:Neonatal gastrointestinal stromal tumor. Report of a case and review of literature. 1579 38

A 12-year-old girl presented with a large abdominal tumor. At surgery, a huge pedunculated extraluminal tumor was found arising from the greater curvature of the stomach and invading the surrounding structures, and there were also a submucosal tumor measuring 5 x 4 x 4 cm and multiple intramural nodules beside the main tumor. These lesions, which were removed with 1.0-cm surgical margins, were immunohistochemically positive for c-kit (CD117) and CD34. A diagnosis of gastrointestinal stromal tumor (GIST) was made. The huge size of the tumor (3.6 kg in weight and 36 x 25 x 25 cm in diameter), the invasion of the surrounding structures, and the increased mitotic figures indicated the GIST had malignant potential. Sequence analysis of the polymerase chain reaction product of RNAs from the tumor cells revealed a novel platelet-derived growth factor receptor alpha (PDGFRA) mutation, which would exhibit biologic consequences similar to those of the c-kit mutation. The patient underwent a 3-month course of imatinib mesylate as adjuvant chemotherapy because of the possible risk for tumor recurrence. She is now doing well without any evidence of recurrence or metastasis 25 months after the surgery. Only 9 cases of GIST have been reported in children, and a review of those cases revealed GISTs in children would be associated with a better prognosis than in adults and that one third of pediatric GISTs presented with intestinal obstruction in the newborn period.
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PMID:Advanced-stage gastrointestinal stromal tumor treated with imatinib in a 12-year-old girl with a unique mutation of PDGFRA. 1629 Nov 74

A malignant peripheral nerve sheath tumor (MPNST) is a rare neoplasm arising from peripheral nerve sheath. Here, we report the first case of MPNST arising in the colon and also the youngest case of MPNST in the gastrointestinal tract. The patient was a 2-day-old neonate with symptoms and signs of intestinal obstruction. The patient had no family history or stigmata of neurofibromatosis type 1. A computed tomographic scan revealed a 5-cm-sized mass in ascending colon causing intestinal obstruction, and emergent right hemicolectomy was performed. The microscopic examination showed atypical spindle cells with hyperchromatic nuclei and high mitotic activity. The results of immunohistochemical staining, which showed positivity for S-100 and vimentin as well as negativity for smooth muscle actin, CD34, and c-Kit, supported the final diagnosis of MPNST. Genetic analysis of the patient revealed no abnormalities. After surgery, the patient recovered uneventfully and has been free of the disease for 17 months.
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PMID:Malignant peripheral nerve sheath tumor arising from the colon in a newborn: report of a case and review of the literatures. 1648 Dec 32

Various pathological abnormalities of smooth muscle and innervation result in clinical syndromes with disordered motility of the small intestine and colon. Although these abnormalities have been extensively reported clinically, their pathologic changes and pathophysiologic mechanisms have not been well elucidated. We report a case of visceral neuropathy with secondary muscle changes in a 7-yr-old ventilator dependent, mentally retarded child who presented with a history of chronic constipation and symptoms of intestinal obstruction. The muscle layer of the colectomy specimen showed extensive infiltration of vacuolated cells that were positive for S-100 and synaptophysin but negative for glial fibrillary acidic protein (GFAP) and neural filament protein (NFP). Calretinin positivity was preserved in submucosal ganglion cells but was absent in vacuolated nerve branches. Masson's trichrome stain showed evidence of fibrosis, indicative of muscle damage. There was a reduced number of intestinal cells of Cajal in the muscularis propria, as indicated by CD117 (c-kit) immunostaining. This disorder is most likely a sporadic visceral neuropathy, secondarily affecting muscular function, that causes colonic pseudo-obstruction.
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PMID:Unusual type of colonic neuromuscular disorder with extensive vacuolization. 1846 60

Gastro-intestinal stromal tumours are rare tumours of the gastro-intestinal tract. Among non-epithelial tumours of gastro-intestinal tract, gastro-intestinal stromal tumours are the commonest but as they are not extensively documented, they are underestimated, poorly understood and inadequately treated for various reasons, particularly at peripheral centres in India. The gravity of the problem increases further as these tumours respond poorly to conventional cytotoxic chemotherapy and radiation therapy. Here a case of gastro-intestinal stromal tumour is reported. The patient was a 35-year-old male who was admitted with evidence of subacute intestinal obstruction. The haematological and biochemical tests showed moderate anaemia, raised serum aminotransferase aspartate (AST, SGOT) and mild hypoproteinaemia. Laparatomy revealed a jejunal tumour which was resected. The routine histopathological examination revealed a spindle cell tumour suggestive of gastro-intestinal stromal tumour -intermediate risk group. Immunohistochemical study showed strong positivity for c-kit confirming the diagnosis of gastro-intestinal stromal tumour. The patient was then referred to oncology centre for further management.
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PMID:Gastro-intestinal stromal tumour--a case report. 2336 48

GIST or gastrointestinal stromal tumors are the most common mesenchymal tumors of the GI tract showing mostly positive c-kit (CD-117) in immuno-histochemical staining. Most of the times, early diagnosis is missed. Usually, patients present with anemia. Sometimes, the patient can present in emergency with massive GI bleed or intestinal obstruction. The aim of this paper was to make the clinicians aware about the varied presentations of GIST. Presenting herewith is our single-center experience of management of patients of GIST with review of the available literature.
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PMID:Gastrointestinal Stromal Tumor-Single-Center Experience with Review of the Literature. 2673 87

The objective was to study the effect of mechanical intestinal obstruction in rats on the phenotype of interstitial cells of Cajal (ICC). Healthy Wistar rats were randomly divided into sham-operation group (C), one day obstruction group (M1), two days obstruction group (M2), and three days obstruction group (M3), with 10 rats in each group. The expression of SCF mRNA and c-Kit protein in intestinal tissue was investigated by RT-PCR and immunohistochemistry. Compared with the sham-operation group, the relative expression of SCF mRNA and the expression of c-Kit protein in intestinal tissue were significantly decreased in both obstruction groups. Levels decreased gradually with the prolongation of obstruction time, and significantly decreased on the 3rd day after obstruction (P<0.05). Immunohistochemical staining of the small intestine showed that the number of ICC in the sham-operation group was the highest, and they were gradually decreased with the extension of obstruction time in the M1 to M3 groups. There was a significant difference between groups (P<0.05). Intestinal obstruction caused a decrease in the concentrations of SCF mRNA and c-Kit protein in ICC. With the prolongation of intestinal obstruction, the number of ICCs gradually decreased.
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PMID:Phenotypic changes of interstitial cells of Cajal after intestinal obstruction in rat model. 3161 95