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1/4. Case report: duodenal stromal tumor.

    Tumors of the small intestine are rare lesions, but they should be kept in mind as possible causes of gastrointestinal symptoms. gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the digestive tract. A 78 year-old woman complaining of abdominal pain, nausea and vomiting after meal and weight loss for three months was admitted to our clinic. On physical examination, there was only epigastric tenderness. No mass was palpated. She was anemic and total protein and albumin levels were low. Other laboratory tests were normal. A 9.0 x 7.5 cm heterogeneous mass was detected on the abdominal computerized tomography scan. endoscopy confirmed a polypoid and vegetative mass in the second part of the duodenum. Histopathological diagnosis of endoscopic biopsy was gastrointestinal stromal tumor. pancreaticoduodenectomy was performed. On the 11th postoperative day, relaparotomy was performed due to biliary leakage from the subhepatic drain. Biliary leakage was from the choledochojejunostomy. Choledochojejunostomy and pancreaticojejunostomy were revised. She was discharged on the postoperative 25th day. Histopathological examination of the resection specimen revealed duodenal stromal tumor. Although stromal tumors are relatively rare in the duodenum, in the case of upper gastrointestinal obstruction and anemia, this type of tumors should be considered in differential diagnosis.
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2/4. Familial gastrointestinal stromal tumor syndrome: phenotypic and molecular features in a kindred.

    PURPOSE: Members of a family with hereditary gastrointestinal stromal tumors (GISTs) and a germline KIT oncogene mutation were evaluated for other potential syndrome manifestations. A tumor from the proband was analyzed to compare features with sporadic GISTs. patients AND methods: Members of a kindred in which six relatives in four consecutive generations comprised an autosomal dominant pattern of documented GISTs and cutaneous lesions underwent physical examination, imaging studies, and germline KIT analysis. A recurrent GIST from the proband was studied using microarray, karyotypic, immunohistochemical, and immunoblotting techniques. RESULTS: In addition to evidence of multiple GISTs, lentigines, malignant melanoma, and an angioleiomyoma were identified in relatives. A previously reported gain-of-function missense mutation in KIT exon 11 (T --> C) that results in a V559A substitution within the juxtamembrane domain was identified in three family members. The proband's recurrent gastric GIST had a 44,XY-14,-22 karyotype and immunohistochemical evidence of strong diffuse cytoplasmic KIT expression without expression of actin, desmin, or S-100. immunoblotting showed strong expression of phosphorylated KIT and downstream signaling intermediates (AKT and MAPK) at levels comparable with those reported in sporadic GISTs. cDNA array profiling demonstrated clustering with sporadic GISTs, and expression of GIST markers comparable to sporadic GISTs. CONCLUSION: These studies provide the first evidence that gene expression and mechanisms of cytogenetic progression and cell signaling are indistinguishable in familial and sporadic GISTs. Current investigations of molecularly targeted therapies in GIST patients provide opportunities to increase the understanding of features of the hereditary syndrome, and risk factors and molecular pathways of the neoplastic phenotypes.
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3/4. Multiple gastrointestinal stromal tumors and synchronous ileal carcinoids.

    BACKGROUND: A 74-year-old African-American male presented with a 3-day history of hematemesis and melena. The patient reported no abdominal pain, constitutional symptoms, bright red blood per rectum, constipation, or diarrhea. His physical examination and medical history were unremarkable except for benign prostatic hypertrophy. An esophagogastroduodenoscopy showed a 3 x 2 x 2 cm smooth round mass in the cardia, 2 cm distal to the gastroesophageal junction. biopsy of the mass revealed an ulcerated tumor composed of spindle cells. immunohistochemistry showed positive staining for a number of biochemical markers, including KIT, Ki-67 and smooth muscle actin, but was negative for the markers S100 and desmin. A gastric-wedge resection revealed an ulcerated 4.5 cm mass in the stomach, and exploration of the abdomen revealed two ileal carcinoid tumors, jejunal diverticula and reactive mesenteric lymphadenopathy. INVESTIGATIONS: Esophagogastroduodenoscopy, biopsy, CT scan, immunohistochemistry, dna microarray analysis and quantitative reverse transcriptase-PCR. diagnosis: Multiple gastrointestinal stromal tumors occurring concomitantly with ileal carcinoids. MANAGEMENT: Gastric-wedge resection and segmental resection.
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4/4. 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 proto-oncogene. 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 esophagogastroduodenoscopy 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.
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