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)

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

Clinicopathological, immunohistochemical and biochemical studies were performed on seven patients from five families showing an abnormal accumulation of desmin in the muscle fibers. Late onset myopathy was observed in all the cases studied. The clinical features were heterogeneous and usually nonspecific. However, some patients presented with dysphonia, dysphagia or cardiomyopathy. These features are highly suggestive of desmin myopathy. Using electron microscopy, desmin myopathy is characterized by an accumulation of granulofilamentous material. Depending on the distribution of the material, however, three different patterns of desmin accumulation can be observed: (1) large circumscribed inclusions, (2) intermyofibrillar areas of diffusely distributed material, and (3) deposits around large spheroid bodies. The second pattern is characterized by a rubbed-out appearance using oxidative enzyme reactions. For all the patients studied here, the immunohistochemical data showed that the desmin accumulation fitted these three patterns of distribution. For six patients, immunoblot analysis confirmed the desmin accumulation patterns and showed that an increase in the expression of the 53-kDa protein had occurred. The third pattern of desmin accumulation confirms the pathological heterogeneity of cytoplasmic and spheroid bodies. Desmin does not accumulate in all cytoplasmic and spheroid body myopathies, as observed in two other familial cases presented here.
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PMID:Familial desmin myopathies and cytoplasmic body myopathies. 892 62

Leiomyosarcomas are extremely rare tumors which develop from smooth muscle, usually in the esophagus and large vessels (inferior vena cava, pulmonary artery, and superior vena cava). In very rare cases, leiomyosarcomas develop from small vessels in the soft tissue of the mediastinum. Clinical expression of mediastinal leiomyosarcomas (dysphagia, dysphonia) is related to their large size and the subsequent compression of mediastinal structures. At pathology examination, the gross aspect is one of a single cell tumor. Microscopically, the tumor may be highly undifferentiated making it necessary to use specific immune markers (actin and desmin) or ultra-structural analysis to establish the diagnosis. Treatment of localized tumors is based on surgical excision, either alone or in combination with radiotherapy of the mediastinum. Chemotherapy, generally dexorubicin, is indicated in case of metastatic dissemination, but outcome remains uncertain. As for all soft tissue sarcomas, the prognosis of mediastinal leiomyosarcoma depends on the size of the tumor, its histological structure and its resectability.
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PMID:[Mediastinal leiomyosarcoma]. 1033 66

Although rare elsewhere in the gastrointestinal tract, leiomyomas (LMs) are the most common esophageal mesenchymal neoplasms. In contrast, gastrointestinal stromal tumors (GISTs) predominate in the stomach and intestines but have not been documented in the esophagus. This study was undertaken to determine the clinicopathologic features and frequency of esophageal GISTs compared with LMs and leiomyosarcomas (LMSs) of the esophagus. A total of 68 stromal/smooth muscle tumors from the Armed Forces Institute of Pathology and the Haartman Institute of University of Helsinki were reclassified by current histologic and immunohistochemical criteria. There were 17 GISTs, 48 LMs, and three LMSs. The esophageal GISTs occurred in 12 men and five women with a median age of 63 years (range, 49-75 years). All tumors were from the lowest third of the esophagus, and the most common complaint was dysphagia, whereas two tumors were detected incidentally. Histologically the tumors had an overall basophilic appearance and showed combinations of solid, myxoid, and perivascular collarlike patterns with a spindle cell histology in 13 patients and epithelioid histology in four patients. All tumors were positive for CD117 and for CD34, whereas two patients were also positive for alpha-smooth muscle actin (SMA) and three patients were positive for desmin. One patient showed a unique immunophenotype with coexpression of CD117, CD34, SMA, and desmin. Nine patients died of disease, including all who had a tumor larger than 10 cm, and also one patient whose tumor showed five mitoses per 50 high-power fields. In comparison, esophageal LMs (n = 48) occurred in a younger population (median age, 35 years) but, similar to the GIST group, men predominated (67%). All LMs were clinically indolent tumors with no tumor-related mortality. The LMs showed eosinophilic cytoplasm, and were positive for desmin and SMA, and negative for CD117 and CD34. All three LMSs were large high-grade tumors that showed muscle cell markers but no CD117. All patients died of disease. Esophageal GISTs showed mutations in exon 11 of c-kit as described previously in gastric and intestinal GISTs. The separation of GISTs from esophageal LMs is important diagnostically because the former group has a high risk of malignant behavior.
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PMID:Esophageal stromal tumors: a clinicopathologic, immunohistochemical, and molecular genetic study of 17 cases and comparison with esophageal leiomyomas and leiomyosarcomas. 1068 Aug 89

A granular cell tumor (GCT; myoblastoma) was diagnosed on the tongue of a 12-year-old English Pointer with clinical signs of mild oral dysphagia. The diagnosis was confirmed by histopathologic examination and immunohistochemistry. The tumor was positive for S-100 protein, but also was positive for desmin, and was only weakly positive for PAS, which is unusual for GCTs. An epithelioid type of leiomyoma (leiomyoblastoma) was considered less likely on the basis of negative staining for smooth muscle actin. Treatment consisted of surgical resection of the tumor. The animal was in excellent clinical condition 1 year after surgery. Although GCT of the tongue has been reported previously in the dog, determining the cell of origin is still problematic. Immunohistochemistry is helpful for histogenetic classification and necessary for differentiation from leiomyoblastoma.
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PMID:Immunohistochemical study of a granular cell tumor on the tongue of a dog. 1202 18

Primary melanoma of the esophagus (PME) is an uncommon malignancy with less than 250 cases reported in the literature. Amelanotic PME is exceedingly rare and accounts for 10-25% of melanomas of the esophagus. A 59-year-old male with a history of mild dysphagia, heartburn, moderate anorexia and weight loss for 1 month is described. Barium swallow examination and videogastroscopy showed a polypoid, ulcerated mass located 30-38 cm from the incisors. No skin or eye melanoma lesions were found. Five biopsy samples were obtained. Histological examinations revealed proliferation of large, loosely cohesive cells of variable shapes and prominent central nucleoli in the deep mucosa. Immunohistochemical findings included positive vimentin, protein S-100, Melan A, and HMB-45, and negative AE1/AE3, CD 17, and desmin. A total transhiatal esophagectomy with high cervical esophagogastric anastomosis was performed. Peritumoral lymph nodes revealed malignant invasion. A diagnosis of primary amelanotic melanoma of the esophagus was made. Fourteen months after diagnosis the patient developed disseminated PME.
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PMID:Primary amelanotic melanoma of the esophagus. 1704 Apr 43

In 1965, an adult-onset, autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy was described in a large, multi-generation kindred and named 'scapuloperoneal syndrome type Kaeser' (OMIM #181400). By genetic analysis of the original kindred, we discovered a heterozygous missense mutation of the desmin gene (R350P) cosegregating with the disorder. Moreover, we detected DES R350P in four unrelated German families allowing for genotype-phenotype correlations in a total of 15 patients carrying the same mutation. Large clinical variability was recognized, even within the same family, ranging from scapuloperoneal (n = 2, 12%), limb girdle (n = 10, 60%) and distal phenotypes (n = 3, 18%) with variable cardiac (n = 7, 41%) or respiratory involvement (n = 7, 41%). Facial weakness, dysphagia and gynaecomastia were frequent additional symptoms. Overall and within each family, affected men seemingly bear a higher risk of sudden, cardiac death as compared to affected women. Moreover, histological and immunohistochemical examination of muscle biopsy specimens revealed a wide spectrum of findings ranging from near normal or unspecific pathology to typical, myofibrillar changes with accumulation of desmin. This study reveals that the clinical and pathological variability generally observed in desminopathies may not be attributed to the nature of the DES mutation alone, but may be influenced by additional genetic and epigenetic factors such as gender. In addition, mutations of the desmin gene should be considered early in the diagnostic work-up of any adult-onset, dominant myopathy, even if specific myofibrillar pathology is absent.
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PMID:Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. 1747 Apr 97

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

Impaired muscle function may be a predominant aspect of hypothyroidism and is virtually present in all patients with overt thyroid failure. Less common is the onset of hypothyroidism with clinical features mimicking a polymyositis. We have observed 3 patients, whose age ranged 63-68 years, presenting with muscle aches, cramps, proximal weakness and stiffness. Two patients had dysphagia. Serum creatine kinase (CK) and electromyography (EMC) were altered in two patients. Muscle biopsy showed type II atrophy, sporadic type I and type II grouping, "core-like" areas, and some myopathic changes such as central nuclei and muscle necrosis. No inflammatory changes were present. Immunohistochemistry of several muscle cytoskeletal proteins revealed increased desmin in "corelike" areas. Detection of serum thyroid hormone levels revealed very low triiodo-L-thyronine (T3) and thyroxine (T4), whereas thyroid-stimulating hormone (TSH) was greatly increased as well as serum anti-thyroglobulin, anti-peroxidase and anti-microsome antibodies. The patients were diagnosed having a hypothyroid myopathy due to Hashimoto thyroiditis. L-thyroxine treatment normalized clinical and hormone levels, but serum antibodies remained elevated. Muscle biopsy was fundamental to establish the correct diagnosis in our patients. Presence of over-expression of desmin in cores, as described in target lesions in neurogenic diseases, may suggest a nerve-mediated pathogenesis of hypothyroid myopathy.
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PMID:Onset of hypothyroidism with polymyositis-like clinical features in elderly patients. 1865 96

Carcinosarcoma of the esophagus is a rare malignancy accounting for approximately 1-2% of all esophageal neoplasms. It presents as a bulky intraluminal polypoid lesion mainly in the mid to lower esophagus, which harbors both carcinomatous and sarcomatous components histologically. It often presents relatively early because of its rapid intraluminal growth. We report the case of a 69-year-old man who had suffered from dysphagia for 1 month. He was previously admitted to the hospital due to corrosive esophagitis caused by ingestion of acetic acid. Endoscopy and radiological studies revealed a bulky polypoid mass with superficial ulcerations and mucosal friability, measuring 10 cm in length approximately, in the mid-esophagus. Subtotal esophagectomy with esophagogastrostomy was done. Microscopically it was composed of sarcomatous component intermingled with squamous cell carcinoma. Immunohistochemical stains reveal cytokeratin, 34betaE12, and p63 positivity in the nests of carcinoma, and desmin and vimentin positivity in the spindle cells of sarcomatous stoma.
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PMID:[A case of carcinosarcoma in a patient with corrosive esophagitis]. 1907 91


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