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)

Extraskeletal Ewing's sarcoma (EES) is rarely found in the head and neck region. We report here a case of EES of the parapharyngeal space in a 53-year-old man who presented with blurred vision, dysphagia, hoarseness and right facial numbness. CT examination showed a large, seemingly well-defined soft tissue mass in the right parapharyngeal space with skull base destruction and intracranial extension. The patient showed poor response to chemotherapy and radiotherapy and died 6 months after initial presentation. A review of the literature revealed no previous reports of EES occurring in the parapharyngeal space.
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PMID:Extraskeletal Ewing's sarcoma of the parapharyngeal space. 1556 49

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

We describe an extremely rare example of Ewing's sarcoma (ES)/peripheral primitive neuroectodermal tumour (pPNET) originating from the jugular foramen. The patient was a 10-year-old boy who presented with progressive symptoms due to right lower cranial nerve palsies. Computed tomographic (CT) scan and magnetic resonance imaging (MRI) revealed a tumour at the right jugular foramen which showed extra-cranial extension. Open biopsy of the extra-cranial lesion was performed, and diagnosis of ES/pPNET was made by histopathological, immunohistochemical and genetic investigations. The patient received a combination of multi-drug chemotherapy and irradiation. By 12 months after the diagnosis, MRI showed complete remission of the lesion, and the patient has been well apart from slight dysphagia. Previously, there was only one report of a jugular foramen ES/pPNET and in which treatment had failed. To our best knowledge, this is the first patient treated successfully with chemoradiotherapy.
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PMID:Primary Ewing's sarcoma: peripheral primitive neuroectodermal tumour of the jugular foramen. 1854 90

Ewing sarcoma (ES) is the second most frequent primary malignant bone cancer, following osteosarcoma. ES is a small round-cell tumor typically arising in the bones, rarely in soft tissues, of children and adolescents. We describe four children aged 3, 3.5, 9, and 9.5 years, who presented with two femur masses simultaneously (patient 1), a huge mediastinal mass (patient 2), an abdomino-mediastinal mass with dysphagia (patient 3), and a huge abdomino-pelvic mass (patient 4). Our patients were of younger age and had abnormal presentations that made initial diagnosis difficult, but also are representative of the different problems encountered in pediatric practice. Biopsy initially revealed round cell tumor and by immunohistochemistry, CD99 was positive, which confirmed the diagnosis of ES. Our patients were difficult to diagnosis.The patients were misdiagnosed initially, so there was a delay in diagnosis. Definitive diagnosis required use of various radiological imaging methods and immunohistochemistry.
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PMID:The many faces of Ewing sarcoma: difficult to diagnose pediatric cases. 2013 55

This study presents a case of Extraosseous Ewing sarcoma arising in the cervical esophagus of a 36-year-old woman who presented with cervical mass and dysphagia. Imaging studies demonstrated a well-defined, cystic-solid mass in the neck extending into the upper mediastinum, which results in deviation of the trachea and esophagus. The relationship between the tumor and the cervical esophagus was found in the operation. The patient underwent localized tumor resection without radical esophagectomy. The accurate diagnosis was obtained by the immunohistochemistry and molecular genetic assay. Although this is a rare site for this type of tumor to occur, extraosseous Ewing sarcoma should be considered in the differential diagnosis of small round cell tumors of the cervical esophagus. The postoperative chemotherapy and radiotherapy are of great value in improving the prognosis of cervical esophageal Ewing sarcoma.
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PMID:Extraosseous Ewing Sarcoma of the Cervical Esophagus: Case Report and Literature Review. 3292 Nov 82