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

A case of malignant esophageal schwannoma is reported. A 54-year-old man consulted for a 1-year history of dysphagia. Investigations revealed a tumor of the distal esophagus, with involvement of the cardia, and were suspicious for metastatic mediastinal nodes. Ivor-Lewis esophagectomy with gastric-tube reconstruction was performed, with favorable outcome. Histological examination revealed esophageal sarcoma in a Barrett's esophagus. Periesophageal nodes had metastatic involvement. Immunohistochemical study was positive for S100 and vimentin and was negative for CD117, compatible with a diagnosis of esophageal schwannoma. We discuss this rare disease and its characteristics. This is the second reported case of malignant schwannoma with lymph node metastasis.
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PMID:[Malignant nerve sheath tumor of the esophagus (malignant esophageal schwannoma)]. 1538 51

A thirty-seven-year-old male patient presented with dysphagia and hoarseness six months after complete remission of acute myeloid leukemia (AML-M0), which had been treated with chemotherapy. Physical examination revealed left vocal cord paralysis and involvement of the 9th, 10th, and 12th cranial nerves. Sagittal and axial magnetic resonance scans of the nasopharynx and neck showed a mass in the left retropharyngeal and perivertebral regions, 6x4 cm in size; another mass in the left vallecula, and infiltration of the right preepiglottic tissue by another mass of 2 cm. There was no bone marrow involvement. A diagnosis of granulocytic sarcoma without leukemia relapse was made and the FLAG-Ida regimen was administered, after which partial regression of the masses was observed. However, the patient died due to a pulmonary infection on the 17th day of chemotherapy.
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PMID:A case of granulocytic sarcoma during complete remission of acute myeloid leukemia with multiple masses involving the larynx and nasopharynx. 1556 34

Follicular dendritic cell (FDC) sarcomas are extremely rare, with only 2 reported cases involving the palate. These tumors have typical oval to spindle cells with fine chromatin, obvious nucleoli and indistinct cell borders. They are usually arranged as sheets, whorls, or in a storiform pattern. Although FDC sarcoma has a characteristic morphologic picture, due to its rarity it may be mistaken for other types of sarcoma, carcinoma or melanoma. Immunohistochemical and ultrastructural studies are useful for confirmation of the diagnosis. We report a case of FDC sarcoma developing in the soft palate. The patient suffered from an oral cavity mass with dysphagia in the previous 2 months as well as body weight loss of 8 kg during the previous 6 months. He was well previously and denied any other systemic problems. Wide excision of the tumor was performed and no recurrence or metastasis was noted for 5 years. The success of the procedure may have been due to a well-defined tumor margin and less aggressive histological features. The ability to recognize and differentiate extranodal FDC tumors based on knowledge of their full morphologic spectrum is important as they have an intermediate malignant potential.
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PMID:Follicular dendritic cell sarcoma of the soft palate. 1649 65

Liposarcoma is the most common soft tissue sarcoma in adult life while esophageal liposarcoma is an extremely rare tumor. In the world literature, only 14 cases of esophageal liposarcomas have been described. We report a 72-year old male patient who was urgently admitted to our hospital for acute epigastric pain with a burning retrosternal sensation, persistent nausea, vomiting and dysphagia. Barium swallow, upper gastrointestinal (GI) endoscopy, esophageal manometry and CT scan, failed to accurately diagnose the lesion. After surgical resection of an esophageal polypoid tumor, the histological examination revealed a well-differentiated grade I liposarcoma. Diagnostic and therapeutic tools were discussed and the results of literature were reviewed.
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PMID:Primary liposarcoma of esophagus: a case report. 1653 63

Pulmonary artery sarcoma is a known but rare tumor with poor prognosis. It is a challenging diagnostic dilemma, as the main complaint of these patients is progressive dyspnea. Dyspnea is a common symptom in cardiorespiratory disease and therefore a high index of suspicion is necessary to make the diagnosis early and proceed with surgery and radiotherapy and/or chemotherapy. We report a case of primary pulmonary artery sarcoma that presented initially with weight loss, shortness of breath, palpitations, and dysphagia.
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PMID:Pulmonary artery sarcoma--a challenging diagnosis: a case report. 1759 90

Sarcomas of the larynx are rare neoplasmas that consitute less than 1% of laryngeal malignancies, and their usual treatment is surgery including partial and total laryngectomy and endoscopic laser cordotomy with reported 20% recurrence. Due to previous positive experience from transversal laryngotomy in patients who underwent aritenoidectomy to treat bilateral cord paralysis after total thyroidectomy, the purpose of this work was to report on the surgical treatment of this rare case with such technique. Thus, a 47 year-old physician who complained of hoarseness for four months without dyspnea, stridor, or dysphagia and with no history of irradiation or chemotherapy was operated after both endoscopic and tomographic studies showed a 3 to 4 cm glotic tumor in its right side, with no ulceration. The pathology proved to be malignant fibrous histiocytoma. Five years after surgery the patient is alive with no evidence of disease.
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PMID:[Transversal laryngotomy. Oncologic and functional results in laryngeal sarcoma. (Malignant fibrous histiocytoma). Case report and literature review]. 1852 36

Mutations in the fused in sarcoma (FUS, also known as translated in liposarcoma) gene have been recently discovered to be associated with familial amyotrophic lateral sclerosis (FALS) in African, European and American populations. In a Japanese family with FALS, we found the R521C FUS mutation, which has been reported to be found in various ethnic backgrounds. The family history revealed 23 patients with FALS among 46 family members, suggesting a 100% penetrance rate. They developed muscle weakness at an average age of 35.3 years, followed by dysarthria, dysphagia, spasticity and muscle atrophy. The average age of death was 37.2 years. Neuropathological examination of the index case revealed remarkable atrophy of the brainstem tegmentum characterized by cytoplasmic basophilic inclusion bodies in the neurons of the brainstem. We screened 40 FALS families in Japan and found 4 mutations (S513P, K510E, R514S, H517P) in exon 14 and 15 of FUS. Even in Asian races, FALS with FUS mutations may have the common characteristics of early onset, rapid progress and high penetrance rate, although in patients with the S513P mutation it was late-onset. Degeneration in multiple systems and cytoplasmic basophilic inclusion bodies were found in the autopsied cases.
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PMID:FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion. 2650 17

Although esophageal liposarcoma is an extremely rare tumor, liposarcoma is the most common soft tissue sarcoma in adults. Liposarcoma is currently classified into the types of well-differentiated, myxoid, round cell, pleomorphic and dedifferentiated liposarcoma. Up to now only a few cases of esophagus liposarcoma have been described in the world literature. We describe a myxoid type liposarcoma of the esophagus in a 68 year old man presented with hoarseness and intermittent dysphagea to solid food. He had a huge mass in his mouth which was mobile with gag reflex. A barium swallow, esophageal manometery and CT scan of the esophagus have not clearly revealed the mass. After endoscopic surgical resection of the tumor the histological examination revealed a myxoid liposarcoma. Both the presenting signs and symptoms and the histology type are rare for such tumor. This case demonstrate a rare differential diagnosis of intermittent dysphagia as early diagnosis is so important in those tumors and should kept in mind them, although they are quite rare.
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PMID:Huge myxoid liposarcoma of the esophagus: a case report. 2159 23

Granulocytic sarcoma also known as extramedullary myeloid sarcoma or chloroma is an uncommon manifestation of leukemia and presents as a deposit of leukemic cells outside the bone marrow. We report a case of a twenty-five-year-old pregnant woman who presented with progressive dysphagia and recurrent postprandial vomiting. Upper GI endoscopy had shown large flat laterally spread nodular lesions in the cardia and proximal body of stomach. Biopsies from the gastric lesion showed granulocytic sarcoma of the stomach. Concurrent peripheral and bone marrow picture was suggestive of acute myeloid leukemia (AML-M4). There is limited reported literature on granulocytic sarcoma of the stomach. Concurrent gastric granulocytic sarcoma involving cardia and AML in pregnancy has not been reported till date.
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PMID:Granulocytic Sarcoma of the Stomach Presenting as Dysphagia during Pregnancy. 2260 23

To study the role of surgery for symptom palliation in patients with advanced head and neck malignancy. Between 2000 and 2011, patients with locoregionally advanced cancer in the head and neck region, who chose surgical palliation for symptom control, were studied retrospectively. During the study period, 52 patients were included. The index tumour included carcinoma of the maxilla (23.1 %), tongue (19.2 %), larynx/hypopharynx (15.4 %), post-radiation sarcoma (11.5 %), primary sarcoma (11.5 %), carcinoma of the lower alveolus (11.5 %), nasal mucosal melanoma (3.9 %) and metastatic tumour in the head and neck region (3.9 %). The major symptoms included bleeding (53.9 %), tumour pain (19.2 %), dysphagia (11.5 %), non-healing ulcerations (7.7 %), airway obstruction (5.8 %) and pathological fracture of the mandible (1.9 %). Ligation of the carotid artery was performed in 10 patients, complete resection of tumour in 35, and surgical debulking of the tumour in 7 patients. Mean survival of the patients was 5.6 months. The majority of the patients achieved satisfactory and persistent control of symptoms. One patient died from pneumonia during the hospital stay, and the rest were discharged after a mean duration of 16.4 days. In selected patients, surgery is effective in palliating symptoms which are otherwise difficult to manage. Detailed planning and good communication is the key to success in improving the quality of dying.
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PMID:Quality of dying in head and neck cancer patients: the role of surgical palliation. 2266 70


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