Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085693 (acute appendicitis)
 3,606 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report elevated serum carcinoembryonic antigen (CEA) in a case of malignant carcinoid tumor of the appendix with liver and lung metastasis. A 55-year-old Thai man was found to have multiple nodules in the liver by ultrasonography. Serum CEA was 7,387.9 ng/mL (normal 0-4.1 ng/mL) leading to a clinical impression of colonic carcinoma with liver metastasis. During the investigation, he developed acute abdomen caused by ruptured acute appendicitis. Malignant carcinoid tumor of the appendix, 1 cm in diameter and located proximal to the ruptured acute appendicitis, was identified. The tumor cells showed trabecular or insular growth pattern, some nuclear pleomorphism but typically fine nuclear chromatin, frequent mitoses and focal necrosis. They were immunoreactive for antibody to chromogranin, neuron-specific enolase, CEA, and cytokeratin. Tumor metastases were discovered in the liver, right lung, mediastinal and right supraclavicular lymph nodes. Electron microscopic study demonstrated pleomorphic neurosecretory granules of the midgut type of carcinoid tumor.
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PMID:Malignant carcinoid tumor of the appendix with liver and lung metastasis: report of a case with a high level of serum carcinoembryonic antigen. 1071 Aug 76

Goblet cell carcinoids are rare neoplasms that predominantly occur in the appendix. In this report we present a case of goblet cell carcinoid of the appendix. A 58-year-old male patient complaining of pain in the right lower quadrant was diagnosed with acute appendicitis and underwent an appendectomy. Histological examination of the resected appendix revealed goblet cell carcinoid. Infiltration of tumor cells beyond the appendix was observed and the surgically resected margin was positive for tumor cells. Carcinoembryonic antigen (CEA) was diffusely detected by immunohistochemistry, and cytokeratin 20, neuron-specific enolase (NSE), chromogranin A and serotonin were focally observed in the tumor cells. The expression of beta-catenin and E-cadherin was investigated to compare with that of typical rectal carcinoids (n = 3) and colon adenocarcinomas (n = 3). In normal colonic and rectal mucosae, beta-catenin and E-cadherin stained positive on the plasma membrane. In the case reported here, beta-catenin showed a preserved expression on the plasma membrane of goblet cell carcinoid; a pattern similar to typical carcinoids rather than to adenocarcinomas. However, E-cadherin demonstrated a reduced expression on the plasma membrane of the tumor cells. This staining pattern was identical to those both of carcinoids and of adenocarcinomas. These findings suggest the possibility that, in some cases, the adherens junctions of goblet cell carcinoids are similar to those of typical carcinoids rather than to those of adenocarcinomas.
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PMID:Goblet cell carcinoid of the appendix: Investigation of the expression of beta-catenin and E-cadherin. 1135 Jun 11

Perivascular epithelioid cell tumors (PEComas) are a group of mesenchymal tumors that coexpress melanocytic and smooth muscle markers; their exact origin remains unknown. This group includes renal angiomyolipoma, clear cell sugar tumor, and lymphangioleiomyomatosis, although the term perivascular epithelioid cell tumors is currently used for lesions that exhibit a similar morphologic and immunohistochemical profile throughout the human body. Recently, a distinct subset of PEComas has been shown to harbor transcription factor E3 gene (TFE3) fusions. We report, for the first time, a unique case of TFE3-positive PEComa presenting as acute appendicitis in a 24-year-old woman. Microscopically, the tumor was composed of benign-appearing epithelioid cells with clear and eosinophilic cytoplasm, and arranged in nested and alveolar patterns. Immunohistochemical studies showed diffuse strong positivity for neuron-specific enolase, TFE3, and progesterone receptor and focal strong positivity for human melanoma black-45 (HMB-45) and melanocyte differentiation antigen (Melan-A) in the tumor cells. Although rare, PEComa should be included in the differential diagnosis of mesenchymal tumors of the appendix.
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PMID:Transcription factor E3 protein-positive perivascular epithelioid cell tumor of the appendix presenting as acute appendicitis: a case report and review of the literature. 2345 53