Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital esophageal stenosis (CES) is a rare disorder with narrowed esophageal lumen that presents as dysphagia from childhood and that is often associated with tracheobronchial remnants or webs. The pathogenesis of CES is unknown. The aim of this study was to examine the histological and immunohistochemical features of CES. Esophagi from 2 young adults with CES and 3 controls with no motility disorders underwent routine H&E staining, trichrome staining for collagen, and detailed immunocytochemical studies for general neuronal markers (protein gene product 9.5, neuron-specific enolase, and S-100) and neurotransmitters (vasoactive intestinal polypeptide, substance P, and galanin) and nitric oxide synthase by beta-nicotinamide adenine dinucleotide phosphate (NADPH)-diaphorase and a specific NO synthase antibody. Quantitative experiments compared the numbers of myenteric neurons and amounts of fibers at the circular muscle. CES esophagi showed infiltration of neutrophils in the myenteric plane, without any increase in collagen. NADPH-diaphorase histochemistry showed a significant reduction of myenteric nitrinergic neurons (7 +/- 3.4 vs. 2.7 +/- 1.8 neurons per high-power field) and fibers at the circular muscle. Other peptidergic neurons studied were not significantly reduced in CES. The specific total lack of NO inhibitory innervation may be an important mechanism in the pathogenesis of stenosis and aperistalsis of the esophagus in this disorder.
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PMID:Peptidergic and nitrinergic denervation in congenital esophageal stenosis. 754 Oct

Two cases of benign schwannoma of the esophagus are presented. The tumors were found in the thoracic esophagus of women of 56 and 64 years of age, respectively, who had complained of dysphagia and back pain. Tumorectomies were performed and the tumors were found to be located within the esophageal wall arising from the muscularis propria. The tumors were examined immunohistochemically and ultrastructurally. These tumors were identical in gross, histological and electron microscopic features. Grossly, the tumors showed yellowish-white cut surfaces without hemorrhage or necrosis. Microscopically, they were composed of spindle-shaped cells showing moderate variation in size and shape, and nuclear palisading. Lymphoid aggregates with germinal centers surrounded the tumors. Immunohistochemically, strong reactions for S-100 protein and neuron-specific enolase were observed in the cytoplasm of spindle cells, whereas reactions for muscle actin and desmin were negative. These findings, together with electron microscopic observations, supported the Schwann cell origin of these tumors.
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PMID:Benign schwannoma of the esophagus: report of two cases with immunohistochemical and ultrastructural studies. 805 13

Small cell carcinoma of the esophagus is an uncommon neoplasm. The authors report the clinicopathologic and immunohistochemical findings in four cases. Dysphagia was the most frequent symptom at presentation. Only one patient was treated by surgery; the other did not receive any treatment. Histologically, three were oat-cell type tumors with areas of intermediate cell type. Combined cell type was not present. Immunohistochemistry demonstrated positivity for neuron-specific enolase and for chromogranin in all four cases. One case was a double primary carcinoma, a squamous cell carcinoma and a small cell carcinoma.
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PMID:Small cell carcinoma of the esophagus. Clinicopathological and immunohistochemical findings in four cases. 814 34

Esophageal carcinoma simulated Paget's disease in a 60-year-old Japanese man with 3 months of difficulty swallowing and pain. Results of an esophageal biopsy indicated undifferentiated carcinoma, but after esophagectomy and partial gastrectomy, the resected esophagus showed that the mucosa was diffusely indurated with irregular, reticulated erosions. There was no tumor mass or ulcer. Histologic examination showed an extensive intraepithelial growth of cancer cells without any glandular or squamous cell differentiation. Tumor cells were large and round and contained large nucleoli and ample, clear, or pale-staining cytoplasm, similar to the cells of Paget's disease. Tumor cells multifocally invaded into the mucosal and submucosal ducts where they formed papillary and tubular nests, indicating adenocarcinomatous differentiation, but there was no invasive growth beyond the basement membrane. Tumor cells in the epithelial layer were negative for periodic acid Schiff (PAS) and alcian blue, but partly positive for epithelial membrane antigen (EMA) and CEA, whereas those in the submucosal ducts and glands were strongly positive for PAS, alcian blue, carcinoembryonic antigen, and EMA, especially at their luminal surfaces. Tumor cells were negative for S-100, neuron-specific enolase, and melanin. These findings indicate that the tumor in the present case was a primary esophageal carcinoma with partial adenocarcinomatous differentiation, showing an extensive intraepithelial Pagetoid growth of its undifferentiated component. This is the first case of esophageal Paget's disease presenting as intraepithelial growth alone.
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PMID:Paget's disease of the esophagus. 838 66

Granular cell tumors (GCTs) are relatively uncommon, usually benign and solitary neoplasms. Until now, about 200 cases of esophageal GCTs have been reported in the literature. We present a rare case of synchronous occurrence of esophageal GCT and moderately differentiated squamous cell carcinoma in a 40-year-old white woman. The GCT was detected incidentally during esophagoscopy undertaken for evaluation of a 4-month history of progressive solid food dysphagia. The gross and microscopic appearance of the GCT was typical. It was localized in the mucosa of the middle esophagus dystally and separately to the cancer. It revealed strong positive immunostaining for vimentin, S-100 protein and neuron-specific enolase, as well as weakly positive focal staining for Ki67 and p53 protein. Although, the coexistence of esophageal GCTs and cancers seems to be coincidental, the necessity of a careful clinical evaluation and a close follow-up of patients with GCT is suggested.
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PMID:Coexistence of esophageal granular cell tumor and squamous cell carcinoma: a case report. 1206 50

A 3-yr-old African pygmy hedgehog (Atelerix albiventris) was submitted with dysphagia, weight loss, and tetraparesis. A palpable mass was found on the ventral neck. Histologic examination revealed replacement of the thyroid gland by a highly cellular, expansile, and infiltrative mass composed of lobules of polygonal cells separated by fine fibrovascular septa. Examination of ultrathin sections revealed tumor cells with few to many dense-core neuroendocrine granules, approximately 100-200 nm in diameter, and stromal amyloid. Immunohistochemical stains were positive for neuron-specific enolase. Only rare cells had positive immunohistochemical staining for calcitonin. Findings are consistent with a neuroendocrine tumor of C-cell origin. This is the first report of a C-cell carcinoma in a hedgehog.
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PMID:Thyroid c-cell carcinoma in an African pygmy hedgehog (Atelerix albiventris). 1256 41

Herein is presented the case of an esophageal pleomorphic giant cell carcinoma combined with small cell carcinoma (SCC). The patient, a 77-year-old man, initially presented with dysphagia and hoarseness, and endoscopy indicated a large esophageal tumor. Despite chemoradiation therapy, the patient died from widespread local extension of the tumor and distant metastases approximately 8 months after onset of the symptoms. Histologically, the primary tumor was composed of pleomorphic tumor components, SCC components, and a tiny focus of squamous cell carcinoma. The pleomorphic tumor cells, consisting of solid sheets of poorly cohesive epithelioid cells and numerous multinucleated giant cells with abundant eosinophilic cytoplasm, were immunohistochemically positive for vimentin and desmin, with scattered positivity for epithelial membrane antigen (EMA) and neuron-specific enolase (NSE), but negative for myoglobin. These findings were histopathologically compatible with pleomorphic giant cell carcinoma occurring at other sites such as the lung. SCC cells, morphologically similar to their pulmonary counterpart, were positive for EMA and some neuroendocrine markers such as chromogranin A and NSE, and occasionally positive for vimentin and desmin. Esophageal pleomorphic giant cell carcinoma can occur in close association with SCC, and should be included in the differential diagnosis of esophageal tumors showing pleomorphism.
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PMID:Esophageal pleomorphic giant cell carcinoma combined with small cell carcinoma. 1761 Apr 78

This study presents a case of Ewing sarcoma and primitive neuroectodermal tumor arising in the esophagus of a 44-year-old woman who presented with progressive dysphagia. Imaging studies demonstrated a polypoid lesion in the esophagus. The tumor was characterized by corded and pseudopapillary architecture, cytologic monotony, and low proliferative activity. Immunohistochemical stains were positive for CD99, neuron-specific enolase, vimentin, cyclin D1, p53, and FLI1 gene product. Fluorescence in situ hybridization demonstrated a 22q12 translocation, associated with primitive neuroectodermal tumor in the tumor cells, whereas reverse transcription polymerase chain reaction conformed expression of Ewing sarcoma/FLI1 fusion transcript in the patient's bone marrow aspirate. Although this is a rare site for this type of tumor to occur, primitive neuroectodermal tumor should be considered in the differential diagnosis of mesenchymal tumors of the esophagus. Genetic analysis is crucial to establish the diagnosis and can be successfully performed on formalin-fixed, paraffin-embedded material and hematopoietic tissue.
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PMID:Ewing sarcoma and primitive neuroectodermal tumor of the esophagus: report of a case and review of literature. 2166 61

Neuroendocrine tumours are the second most common laryngeal neoplasms, following squamous carcinoma. In this paper, we report the case of a moderately differentiated neuroendocrine carcinoma NEC (atypical carcinoid) of the larynx in a heavy smoker 67-year-old woman, with a history of hoarseness, dysphagia and dyspnea. The lesion was biopsied and microscopic examination revealed moderately differentiated NEC; thus the patient underwent supraglottic laryngectomy with lymphadenectomy. Here, we emphasized the morphological criteria for a correct pathological diagnosis. Moreover, because it has been demonstrated that many neuroendocrine neoplasms and malignant lesions of the larynx can be related to human papilloma virus (HPV), for the first time, we probed to verify if laryngeal neuroendocrine carcinoma could be due to an HPV infection by using polymerase chain reaction amplification (PCR) of tumoural DNA. On immunohistochemical analysis, the lesion characteristically revealed both neuroendocrine and epithelial differentiation with diffuse staining for chromogranin A, synaptophysin and neuron-specific enolase (NSE) and epithelial membrane antigen (EMA) and overexpression of p53 protein. PCR of NEC DNA did not show any signal for HPV DNA. Thus, this neoplasm is not due to an HPV infection, but a mutation of p53 gene which could cause immunohistochemical overexpression of p53 protein.
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PMID:Primary moderately differentiated neuroendocrine carcinoma (atypical carcinoid) of the larynx: A case report with immunohistochemical and molecular study. 1861 41

The granular cell tumor (GCT) is an uncommon neoplasm, with slow progression, usually benign, that can be found in any organ. The most common region for GCT involvement is in the head and neck. Laryngeal involvement is uncommon and accounts for 6 to 10% of all cases reported. Among the major theories of origin and based on the strongest evidence, the most accepted one is that the tumor stems from neuronal tissue. The GCT has a higher incidence in African-descendent patients, and most commonly in their 4th and 6th decades of life. The posterior larynx is the most common laryngeal site. Pediatric laryngeal GCT is rare, anterior subglottis involvement has been described and extensive glottic involvement may occur. Affected patients typically present with hoarseness, dysphagia, cough, haemoptysis, stridor and pain. The GCT presents as a small, firm nodule, sessile or polypoid, with intact mucosa, well outlined but not encapsulated. Cytoplasm granules are typically seen under light microscopy, and the cells are positive for S100 immunoperoxidase and neuron-specific enolase. Treatment of laryngeal GCT is based on surgical excision. This paper describes a pediatric patient with GCT and its clinical course before and after surgical treatment, stressing the importance of GCT diagnosis in the pediatric population. We review clinical course, pathology characteristics and treatment.
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PMID:Granular cell tumor of the larynx in children: a case report. 1908 63


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