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1/28. Gastrointestinal presentation of germ cell malignancy.

    OBJECTIVES: To summarize monoinstitutional experience with gastrointestinal (GI) presentations of germ cell malignancy and to review recent medical literature on this issue. methods: Retrospective review of 5 cases with advanced germ cell malignancy (testicular 2 and retroperitoneal 3) and involvement of the upper GI tract and a comparison with published observation. RESULTS: In 4 patients the duodenum and in 1 patient the distal part of the esophagus were involved in germ cell malignancy. In 3 patients grade 3 or grade 4 anemia represented the principle initial symptom. Ulceration of the upper GI tract was in 1 case complicated by an aortoduodenal fistula with rupture of the aorta. This patient and 2 other cases needed emergency surgery due to GI hemorrhage before and/or during the initial phase of chemotherapy. Our observations compare well with the literature, showing the need of multimodality therapy of these complications. CONCLUSION: In young males with a malignant tumor in the upper GI tract, the diagnosis of germ cell malignancy should be considered. Treatment of this condition requires a multimodality approach, not rarely including emergency surgery. Though these patients often belong to a poor-prognosis group, our results and the literature review show that long-term survival is possible using modern treatment principles. In particular, the risk of GI hemorrhage, during the initial phase of therapy, should not be overseen.
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ranking = 1
keywords = esophagus
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2/28. Quintuple carcinomas with metachronous triple cancer of the esophagus, kidney, and colonic conduit following synchronous double cancer of the stomach and duodenum.

    A patient who had undergone radical gastrectomy for synchronous gastric cancer (T(1)N(0)M(0), stage I) and duodenal cancer (Tis, stage 0) in November 1987 was found to have esophageal cancer in November 1994, and underwent radical thoracolaparotomy at our hospital (T(1)N(0)M(0), stage I). After follow-up for about 3.5 years, renal cancer was detected in April 1998, and radical nephrectomy was performed (T(1)N(0)M(0), stage I). Two years later, in April 2000, the patient was found to have a polypoid lesion in the colonic conduit used for reconstruction after esophagectomy, and endoscopic mucosal resection was performed (Tis, stage 0). The patient remains under careful follow-up, including observation of the colonic conduit and the residual large intestine.
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ranking = 4
keywords = esophagus
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3/28. Endoscopic findings in chronic lymphocytic leukemia.

    retrospective studies, based on autopsy findings, indicate that infiltration of the gastrointestinal tract complicates leukemia of all types and may be present from the esophagus to the rectum. This report presents what is believed to be the first reported case of a patient with chronic lymphocytic leukemia with evidence of esophageal, gastric, duodenal bulb, and colonic involvement confirmed by mucosal biopsy at endoscopy.
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keywords = esophagus
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4/28. A case of primary intestinal T-cell lymphoma involving entire gastrointestinal tract: esophagus to rectum.

    Primary intestinal T-cell lymphoma is a rare disease entity, which is approximately 10% to 25% of intestinal lymphomas, and most of the lymphomas occur in the small intestine. We report here a case of a 56-year-old woman who has been suffering from chronic diarrhea and weight loss for 6 months. Abdominal CT scan and small bowel series showed diffuse wall thickening of the small bowel. Gastroscopic examination showed diffuse erythematous lesions on the esophagus and small gastric ulcerations on the antrum of the stomach, and colonoscopic examination also showed multiple punched-out ulcerations and erosions on the entire colon, including the sigmoid colon to the terminal ileum. Diffuse infiltration of CD 3 positive lymphoma cells was found on biopsy. The patient was diagnosed as primary intestinal T-cell lymphoma with diffuse involvement of the entire gastrointestinal tracts from the esophagus to the rectum. Although the patient received systemic combination chemotherapy and achieved partial response initially, the lymphoma relapsed repeatedly.
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ranking = 6
keywords = esophagus
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5/28. Symptomatic lipomas of the gastrointestinal tract.

    Eleven patients with symptomatic lipomas of the gastrointestinal tract have been observed. The lipomas generally are relatively large, and the signs and symptoms consist mainly of abdominal pain and chronic blood loss. These lesions most commonly are seen in the colon and in the region of the ileocecal valve and less commonly in the small intestine, stomach and esophagus. Distinguishing thest tumors from carcinomas or sarcomas may be difficult, and patients are generally in the same age range as those with cancer. Roentgenologic contrast studies are helphful in localizing the tumors, but accurate tissue diagnosis usually is not made until the lesions are excised. Operative management by either local excision or segmental resection is required, and the prognosis is excellent.
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keywords = esophagus
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6/28. Familial gastrointestinal stromal tumors associated with dysphagia and novel type germline mutation of KIT gene.

    A family with multiple gastrointestinal stromal tumors (GISTs), a new type of germline mutation of KIT gene, and dysphagia is reported. The mutation was observed at Asp-820 in tyrosine kinase (TK) II domain. Mutations in TK II domain have been found in mast cell and germ cell tumors but not in GISTs, and the present family members are the first reported cases of GISTs with TK II domain mutations, including sporadic GISTs. Because interleukin 3-dependent Ba/F3 murine lymphoid cells transfected with the mutant KIT complementary dna grew autonomously without any growth factors and formed tumors in nude mice, the mutation was considered to be gain-of-function type. family members with the germline KIT mutation reported dysphagia, but those without the mutation did not. The mechanism of dysphagia was examined with gastrointestinal fiberscopy, endoscopic ultrasonography, and esophageal manometry. No mechanical obstruction was found, and the esophagus was not remarkably dilated. In the family members with dysphagia, endoscopic ultrasonography at the esophagocardiac junction showed a thickened hyperechoic layer between the circular and longitudinal muscle layers, suggesting hyperplasia of interstitial cells of cajal at the myenteric plexus layer. manometry showed low resting lower esophageal sphincter pressure and abnormal simultaneous contractions of the esophagus without normal peristalsis. These findings indicate that the dysphagia of the present family is different from typical achalasia. This is the first report of familial dysphagia caused by germline gain-of-function mutation of the KIT gene at the TK II domain.
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ranking = 2
keywords = esophagus
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7/28. Adenocarcinomas of the gastrointestinal tract with prominent rhabdoid features.

    rhabdoid tumor, first described in kidneys of infants and children, is an aggressive tumor that has been reported in several extrarenal locations. Gastrointestinal tumors with rhabdoid features are extremely rare. The effect of the rhabdoid phenotype on the aggressiveness of gastrointestinal tumors remains unclear. We present four cases of rhabdoid tumors of the gastrointestinal tract involving the esophagus, stomach, and small intestine and discuss the clinicopathologic, immunohistochemical, and ultrastructural features. In the four cases reported herein, the patients' ages ranged from 52 to 73 years, and tumor size ranged from 3.8 to 13 cm in greatest dimension. The noncohesive rhabdoid cells exhibited an eccentric nucleus with a paranuclear inclusion, which was shown by electron microscopic examination to be composed of intermediate filaments. On immunohistochemical staining, the tumor cells were positive for vimentin and cytokeratin. Three patients developed distant metastasis shortly after diagnosis and died of disease within 2 to 10 months after initial presentation. A retrospective review of outcomes of the current cases and previously published literature showed that 12 (75%) of the 16 patients died within 6 months of presentation. Recognition of the rhabdoid phenotype in gastrointestinal tract neoplasms is important because this feature is associated with poor prognosis and unresponsiveness to conventional therapy.
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ranking = 1
keywords = esophagus
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8/28. GI polyposis and glycogenic acanthosis of the esophagus associated with PTEN mutation positive Cowden syndrome in the absence of cutaneous manifestations.

    A 62-yr-old man was referred for management of GI polyposis. Large bowel polyps were initially diagnosed >25 yr ago, and the patient had undergone multiple colonoscopies and polypectomies. Personal and family history were notable for thyroid goiter and hypothyroidism. physical examination was notable for lingular papillomatosis. No cutaneous lesions were seen. Upper endoscopy revealed esophageal glycogen acanthosis. There were multiple polyps throughout the stomach and the small and large intestines. histology of these polyps showed multiple cell types including juvenile polyps, inflammatory polyps with fibromuscular proliferation and lamina propria ganglion cells, and focal adenomatous change. A clinical diagnosis of Cowden syndrome was made. mutation analysis revealed a variant in exon 8 of the PTEN gene. Direct sequencing revealed a germline heterozygous C.892-895InsA, which is predicted to result in a truncated PTEN protein. Cowden syndrome is an underdiagnosed, underrecognized, autosomal dominant, inherited syndrome. For the gastroenterologist, esophageal acanthosis and multiple hamartomatous polyps should suggest the diagnosis. Sensitive molecular diagnostic tests looking for mutations in the appropriate genes are clinically available. Together with genetic counseling, molecular diagnostic testing will allow more accurate risk assessment and surveillance for cancer for both the patient and family members.
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ranking = 4
keywords = esophagus
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9/28. A rare case of multiple lymphomatous polyposis with widespread involvement of the gastrointestinal tract.

    Multiple lymphomatous polyposis (MLP) is an uncommon type of primary non-Hodgkin gastrointestinal (GI) B-cell lymphoma characterized by the presence of multiple polyps along the GI tract. Malignant cells of MLP have mantle cell characteristics and thus are considered to be the counterpart of the mantle cell lymphoma (MCL) in the GI tract. Since 1961, no more than 70 well-documented cases have been published. We report the case of 53-year-old man diagnosed as having MLP. The patient presented with diffuse abdominal pain, chronic lower GI bleeding, peripheral lymphadenopathy, and weight loss. The lymphomatous polyps extended from the esophagus to the rectum, with bone marrow infiltration. Immunohistologic findings were characteristic of MCL. The patient was treated with a combined cyclophosphamide, vincristine, and prednisone chemotherapy regimen, resulting in a partial response.
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ranking = 1
keywords = esophagus
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10/28. CD30 (Ki-1)-positive, anaplastic large cell lymphoma mimicking gastrointestinal carcinoma.

    BACKGROUND. There is great diversity in the clinical presentation of CD30 (Ki-1)-positive, anaplastic large cell lymphoma (ALCL). The authors report two patients in whom the clinical and morphologic features mimicked gastrointestinal carcinoma. methods. Surgical pathology specimens were examined using standard histologic techniques. paraffin- and frozen-section immunohistochemistry was performed by an avidin-biotin-peroxidase method. RESULTS. The first patient is a 58-year-old man who presented with a constricting mass of the sigmoid colon. Immunohistochemical staining for CD45 (LCA) was negative in formalin-fixed paraffin sections. However, CD45 and CD74 (LN2) were detectable in B5 postfixed material. The second patient is a 44-year-old woman who presented with dysphagia and back pain. Endoscopic examination revealed an ulcerated luminal mass in the proximal esophagus and a gastric ulcer. Mucosal biopsy specimens of the esophagus and stomach contained ALCL, which was CD45 positive. Retroperitoneal lymph nodes contained ALCL infiltrating the sinuses, interfollicular areas, and blood vessel lumina. In addition to CD45 and pan-T-cell antigens, the neoplastic cells expressed CD68 (KP1) and epithelial membrane antigen (EMA). Monoclonal antikeratins were negative, but a polyclonal antikeratin stain was positive. CONCLUSIONS. These findings indicate that clinical, morphologic, and some immunologic features of ALCL may mimic gastrointestinal carcinoma.
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ranking = 2
keywords = esophagus
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