Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030193 (pain)
 261,466 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Precursor B-lymphoblastic lymphoma (B-LBL) may present as a solitary bone tumor. Fewer than 10 cases with a proven precursor B-cell phenotype have been reported in the English literature. In this report, we describe four cases of B-lymphoblastic lymphoma presenting as a localized intraosseous mass, which clinically and histologically mimicked Ewing's sarcoma. Three tumors occurred in the tibia and one in the humerus. In all four cases, the initial diagnosis was either "Ewing's sarcoma" or "consistent with Ewing's sarcoma." All four patients were female. Three were children and one was an adult; mean age was 12.5 years (range, 4 to 31 years). All had extremity pain without significant constitutional symptoms. In three cases, the tumors were osteolytic on radiographic evaluation, and in one case, osteosclerotic. Immunohistochemical stains on paraffin-embedded tissue showed that the neoplastic cells expressed terminal deoxynucleotidyl transferase, CD43, vimentin, and CD99 (MIC2 gene product) in all cases. Three cases were negative for CD45. CD79a was positive in all four cases studied; however, CD20 (L26) was positive in only two of four cases. CD3 was negative in all cases. Two cases showed focal granular cytoplasmic staining for keratin. Two cases analyzed by polymerase chain reaction (PCR) revealed clonal rearrangement of the immunoglobulin heavy chain (IgH) gene. Follow-up revealed that the three pediatric patients, who received a high-dose multiagent chemotherapy regime for LBL, are disease free at follow-up intervals of more than 1, 11, and 12 years, respectively. The adult patient died two years after diagnosis with disseminated disease. Although rare, B-lymphoblastic lymphoma should be considered in the differential diagnosis of small round cell tumors of bone. A diagnosis of Ewing's sarcoma should be made only after complete immunophenotyping and, if necessary, molecular diagnostic tests to exclude lymphoblastic lymphoma. A limited panel of antibodies can lead to an erroneous diagnosis; B-lymphoblastic lymphoma may be negative for CD45 and CD20 but positive for CD99 and even for keratin, mimicking Ewing's sarcoma. Correct diagnosis is extremely important because LBL usually is curable in the pediatric age group with appropriate therapy.
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PMID:Precursor B-Lymphoblastic lymphoma presenting as a solitary bone tumor and mimicking Ewing's sarcoma: a report of four cases and review of the literature. 966 42

Chondroblastoma is a rare benign bone tumor. It commonly affects the epiphysis of long bones during the second and third decades of life. Chondroblastoma of the temporal bone is extremely rare. We reviewed five cases of chondroblastoma arising in the temporal bone. Four cases were female and one was male. The ages ranged from 41 to 60 years (mean, 53.6 years). All cases involved the temporal bone. Three involved the left side and two the right. Chief complaints were long-standing localized pain and hearing difficulty. A sharply demarcated lobulated mass was the main radiological finding. Microscopic findings were those of chondroblastoma of usual locations. Two cases showed aneurysmal bone cyst-like areas. Immunohistochemical studies for CD34, CD99, S-100 protein and cytokeratin were performed. Tumor cells were diffusely positive for S-100 protein in three cases and weakly positive for cytokeratin in one case. CD34 and CD99 were negative in all cases. In summary, chondroblastoma of the temporal bone is rare and occurs in older age group than reported cases of chondroblastoma of the usual location in the literature.
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PMID:Chondroblastoma of the temporal bone: a clinicopathologic study of five cases. 1057 53

A case of mesothelioma with a small cell component in a 53-year-old, non-smoker woman. The patient had a history of asbestos exposure, and presented with thoracic pain. A total body computed tomogram showed a left pleural effusion and a 7.5-cm pleural mass. Thoracoscopy revealed a diffuse nodular thickening of the left parietal pleura, and a biopsy was performed. The patient died of the disease 4 months after diagnosis. Microscopically, the pleural neoplasm was composed of three different components: 40% of the tumor showed the classic histology of a malignant epithelial mesothelioma, 40% was composed of small- to medium-sized cells with open nuclear chromatin, evident nucleoli and high mitotic activity, and 20% of the neoplasm was indistinguishable from a small cell carcinoma. Immunohistochemically, the first component was diffusely and strongly positive for cytokeratin AE1/AE3, cytokeratin CAM 5.2 and EMA, focally positive for BER-EP4, and negative for CD15, B 72.3, CEA, LCA, chromogranin, synaptophysin, TTF-1 and CD99. The cells of the second component were positive only for cytokeratin AE1/AE3 and cytokeratin CAM 5.2, and the elements of the third component were negative for all the antibodies tested. Pleural mesothelioma with a small cell component is rare. The most useful parameters to distinguish it from other small cell malignancies that may involve the pleura, particularly small cell carcinoma of pulmonary origin, are discussed.
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PMID:[Small-cell mesothelioma of the pleura: description of a case]. 1241 72

We report a case of solitary fibrous tumor involving the spinal nerve root at the L1-L2 level in a 67-year-old man. The patient presented with lumbar pain and weakness in his right lower extremity. Histologically, the tumor was composed of a proliferation of monomorphous spindle cells in an abundant collagenous stroma; neither necrosis nor mitoses were evident. These cells were strongly immunoreactive with CD34, Bcl-2, CD99, and vimentin, but were negative with S100 protein, smooth muscle actin, and epithelial membrane antigen. Such an immunohistochemical profile was consistent with a solitary fibrous tumor of the spinal nerve rootlet and ruled out the main differential diagnoses, schwannoma and meningioma. The present case suggests that solitary fibrous tumor should be considered in differentiating spindle cell lesions of the spinal cord and nerve rootlet.
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PMID:Solitary fibrous tumor of the spinal nerve rootlet: report of a case mimicking schwannoma. 1498 50

Ewing's sarcomas account for 6.8% of all primary malignant bone tumors and are probably a neurogenic, undifferentiated, high-grade malignancy, which usually affects the bones of children 5-15 years of age. Pain and swelling are the most common symptoms. Increase of CRP and erythrocyte sedimentation rate, leucocytosis, and anemia are frequently seen. Radiologically, they show permeative bone destruction on plain radiographs. When arising in the diaphysis of long bones, laminated, "onion-skin" periosteal reaction is seen. The tumor shows muscle density on CT, iso-signal intensity on T1-weighted MR images, and high signal intensity on T2-weighted MR images. Intramedullary invasion and skip lesions can be detected on MR images. Histologically, the tumor is uniformly composed of sheets of small round cells closely packed and without any matrix product. Glycogen granules are demonstrated in the cytoplasm by periodic acid-Schiff (PAS) and diastase reactions. Immunohistochemically, Ewing's sarcomas are positive for vimentin and MIC-2 gene product (CD99). Reciprocal translocation, i.e., t(11;22) (q24;q12), is seen in the tumor cells. EWS/FLI-1 fusion gene can be demonstrated, which can be a complementary method in diagnosing this tumor. Because Ewing's sarcomas are chemosensitive and radiosensitive, they are treated by a combination of chemotherapy, surgery, and radiotherapy. Neoadjuvant chemotherapy consists of preoperative chemotherapy and postoperative chemotherapy. Preoperative chemotherapy aims at eradicating distant micrometastasis, reducing the primary tumor volume, and evaluating the efficacy of the chemotherapeutic agents. Surgery is performed as a local treatment by excising the tumor using the wide procedure. If surgery is impractical, curative radiotherapy is performed instead of excision. When surgery is performed without complete wide procedure, adjuvant radiotherapy is carried out to eradicate the residual tumor cells. Postoperative chemotherapy aims to eradicate the distant micrometastasis. Recently, myeloablative, high-dose chemotherapy followed by autologous bone marrow transplantation is being attempted for poor-prognosis patients and good results have been reported.
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PMID:[Ewing's sarcoma]. 1504 38

Ewing sarcoma is a bone tumour that commonly appears between ages five and 10 in the diaphysis of the long bones and predominantly presents with pain and swelling. The case of an 18-year-old girl who presented with back pain, cough, dyspnea, weakness and fever is described. Chest radiograph showed a homogenous density in the middle and inferior zones of the right hemithorax. Thoracic computed tomography revealed a diffuse pleural effusion and a 6.99 cm x 4.45 cm solid mass composed of lobulated, small cystic lesions and calcifications in the right hemithorax. Biochemical analysis of pleural fluid showed hemorrhagic effusion and exudate. A pleural needle biopsy demonstrated solid uniform tumour cells with narrowed cytoplasm, round nuclei and uncertain nucleoli. All of the tumour cell cytoplasms stained with CD99. The pathological examination supported Ewing sarcoma. Three-phase Tc-99m methylene diphosphonate scintigraphy of the whole body showed pathological tracer uptake in a broad area of the eighth costal bone and in smaller areas of the ninth and 10th costal bones. This case is reported because Ewing sarcoma is a rare cause of pleural effusion in clinical practice among younger adults.
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PMID:Massive pleural effusion in an 18-year-old girl with Ewing sarcoma. 1533 40

We describe a rare case of sinonasal T-cell lymphoma in an 11-year-old boy who presented with a right acute orbit characterized by proptosis, eyelid edema and erythema, limitation of eye movements, and excruciating pain on the right side of his face. Orbital computed tomography showed progressive right extraocular muscle enlargement. One biopsy specimen showed extensive tissue necrosis and an infiltrate of atypical cells with pleomorphic nuclei within the walls of blood vessels. Immunohistochemical studies demonstrated that these cells were positive for leucocyte common antigen (CD45), CD3 cytoplasmic, CD45RO, and terminal deoxynucleotidyl transferase and negative for CD20, CD57, CD56, CD99 and Epstein-Barr virus. Chemotherapy for T-cell non-Hodgkin lymphoma was initiated, but the patient's status deteriorated and the child died of respiratory insufficiency, sepsis, and central nervous system infection.
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PMID:T-cell sinonasal lymphoma presenting as acute orbit with extraocular muscle infiltration. 1559 54

A 9-year-old, female Mongrel dog was presented for posterior hindlimb weakness, inability to stand, and pain in the lumbosacral and pelvic regions. Radiography revealed a lytic lesion extending from L5 to L6 to the ilium. At necropsy, an 8 x 2 to 3.2 x 3 cm, irregular, white, firm mass was identified extending from the left dorsolateral aspect of the L6 vertebrae to the sacrum, crossing the sacroiliac joint to the ilium, and reaching the acetabulum without affecting the joint cartilage. Tumor masses were also present bilaterally near the costochondral junction of several ribs. White, soft nodules were present in the heart, pericardium, lungs, spleen, and kidneys as well. Histologically, osteolysis with disruption of the cortical bone and reactive bone with the presence of multinucleated osteoclasts was noted. Neoplastic cells consisted of variable, small basophilic round cells (SBRC) with very scant cytoplasm, larger polygonal cells with abundant eosinophilic cytoplasm, and vacuolated cells resembling adipocytes. Within the marrow cavity, vacuolated cells with necrosis predominated, whereas in periosteal areas, polygonal and vacuolated cells that were mixed with a lower percentage of SBRC were more common. In the lungs and heart, SBRC predominated, and in the spleen, polygonal cells were more numerous. Tumor cells stained positive for vimentin and S-100 and stained negative for CD99, neuron-specific enolase, synaptophysin, chromogranin A, cytokeratins, desmin, myoglobin, and actin. This tumor most likely arose from the marrow cavity of the L6 and later invaded through the vertebral body into adjacent vertebrae and various visceral sites.
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PMID:Disseminated liposarcoma in a dog. 1594 92

Ewing's sarcoma (ES) is a highly malignant tumor composed of uniform small round cells. Recently, a single biologic entity, Ewing's sarcoma family of tumors (ESFT) has been accepted. The entity includes ES, extraskeletal Ewing's sarcoma (EES) and primitive neuroectodermal tumor (PNET). ESFT cells have immunoreactivity for CD99, an antigen determined by the MIC2 gene. Most ESFT has the (11;22) (q24;q12) translocation. The translocation results in the fusion of the EWS gene with the transcription factor gene FLI1 which has been considered a hallmark of ESFT. We present an extremely unusual case with ESFT in a spinal nerve root mimicking a neurogenic dumbbell tumor. A male aged 20 years noticed pain in his right buttock. Magnetic resonance imaging (MRI) revealed a mass in the right L5/S intervertebral foramen and the lesions in the sacrum. Surgery was performed with a presumptive diagnosis of a nerve sheath tumor. At surgery, the tumor was located in the right L5 nerve root sleeve. The sacral lesions were observed closely. At one month after surgery, radiologically multiple lesions were detected in the pelvic bones. Microscopically the lesions from the root and ilium were composed of small round cells immunoreactive for CD99. Reverse transcription-polymerase chain reaction detected transcripts resulting from the fusion of the EWS gene with FLI1 genes in the iliac lesion. Immunoreactivity for CD99 and detection of the EWS-FLI1 hybrid transcripts are important for the correct diagnosis of ESFT arising in an unusual location.
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PMID:Ewing's sarcoma in the spinal nerve root: a case report and review of the literature. 1686 60

Mesenchymal chondrosarcoma (MCS) is a rare malignant neoplasm of bone or soft tissue origin, locally aggressive, rare in the oral cavity, of which fewer than 100 cases have been reported in the English literature. This is the first case described of this type of tumor affecting the coronoid process. The report describes a unique case of MCS in a 64-year-old woman who presented with swelling and pain at the left preauricular area just anterior to the left tragus. An orthopantomograph showed a large mass in the temporomandibular joint involving the left coronoid process and extending to the left ramus of the mandible. Biopsy and histopathologic examination revealed a biphasic pattern, composed of an undifferentiated small round-cell component surrounding a myxoid of malignant cartilage; a focally pericytic vascular pattern resembling hemangiopericytoma was observed. Immunohistochemical studies were positive for CD99, S-100, and CD45 and negative for desmin, actin, chromogranin, epithelial membrane antigen (EMA), and cytokeratin. The tumor was treated by extensive hemimandibulectomy followed by reconstruction of the area. There was no evidence of disease at the 8-year follow-up. Previously reported cases are reviewed as well.
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PMID:Mesenchymal chondrosarcoma of the left coronoid process: report of a unique case with clinical, histopathologic, and immunohistochemical findings, and a review of the literature. 1743 91


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