Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q16637 (SMA)
 8,107 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 6-month-old girl was admitted to another hospital because of consciousness disturbance, preceded by 2 weeks of decreased activity and vomiting. She was referred to our hospital after ventricular drainage had been instituted for hydrocephalus and the tumor in the pineal region. The patient was noted to have conjugate upward gaze palsy and papilledema. CT scan and MRI revealed a large tumor in the pineal region with tumoral hemorrhage and a small mass in the right frontal lobe. At surgery, the pineal region tumor was removed subtotally. Histological examination showed the tumor to be composed of sheets of large polyhedra or round cells with an eccentric round nuclei, prominent nucleoli, and cytoplasmic inclusions. Immunohistochemical studies were positive for GFAP, vimentin, S-100, CK, EMA, and SMA, but negative for AFP, HCG, PLAP, and CEA. Following surgery, she received three 5-day cycles of chemotherapy, consisting of intravenous administration of cisplatin 20 mg/m2/day and etoposide 60mg/m2/day. After these therapies, MRI showed a decrease in the area of high intensity in the pineal region, but almost no change in the right frontal mass lesion. Follow-up radiological examination showed that the tumor had grown rapidly one month after chemotherapy and the patient died 5 months after her first hospitalization. Malignant rhabdoid tumor of the CNS is rare and remarkably malignant. This tumor should be treated using multidisciplinary management with surgery, intensive chemotherapy, and radiotherapy depending on the patient's age.
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PMID:[A case of malignant rhabdoid tumor in the pineal region in early infancy]. 930 Apr 49

Rhabdoid tumor is a well-accepted clincopathologic entity among childhood renal neoplasms; similar tumors have been described in extrarenal locations. We present the clinicopathologic profile and the immunohistochemical features of a series of soft tissue rhabdoid tumors. Twenty-eight cases coded as extrarenal rhabdoid tumor (ERRT), RT, possible ERRT, and "large cell sarcoma" were retrieved from the Armed Forces Institute of Pathology soft tissue registry. The tumors were reclassified according to strict criteria by light microscopy, clinical information, immunohistochemistry, and, in some cases, electron microscopy. Soft tissue rhabdoid tumor (STRT) was defined as (1) a tumor composed of noncohesive single cells, clusters, or sheets of large tumor cells with abundant glassy eosinophilic cytoplasm, an eccentric vesicular nucleus, and an extremely large nucleolus; (2) positivity for vimentin and/or cytokeratin or other epithelial markers by immunostaining; and (3) exclusion of other tumor types with rhabdoid inclusions (melanoma, other sarcomas, carcinoma). Eighteen cases met our criteria for soft tissue rhabdoid tumors. The median patient age was 13 years (range, 6 months to 56 years). Ninety-four percent of STRT cases were positive for vimentin and 59% for pan-cytokeratin. Sixty-three percent and 60% were positive for CAM 5.2 and EMA, respectively. Seventy-nine percent stained for at least one epithelial marker; 76% stained for both vimentin and epithelial markers simultaneously. Forty-two percent stained for MSA, and 14% for CEA and SMA. CD99, synaptophysin, CD57 (Leu-7), NSE, and focal S100 protein were identified in 75%, 66%, 56%, 54%, and 31% of the STRT cases, respectively. All STRT cases examined were negative for HMB-45, chromogranin, BER-EP4, desmin, myoglobin, CD34, and GFAP. Follow-up examination in 61% of the STRT patients revealed that 64% of patients died of disease within a median follow-up interval of 19 months (range, 4 months to 5 years); 82% had metastases to lung, lymph nodes, or liver; 22% had local recurrences before metastasis; and 18% were alive without known disease status (median, 5.5 years). Soft tissue rhabdoid tumor is a highly aggressive sarcoma, predominantly of childhood. Besides having nearly consistent coexpression of vimentin and epithelial markers, STRTs show positivity for multiple neural/neuroectodermal markers that overlap with those of primitive neuroectodermal tumor.
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PMID:Extrarenal rhabdoid tumors of soft tissue: a clinicopathologic and immunohistochemical study of 18 cases. 993 May 72

Malignant rhabdoid tumor (MRT), described for the first time in 1978 in the kidney, has rarely been reported in other organs including the brain and has involved adults in only 3 cases. We described a case of MRT in a 32-year-old woman who presented with severe headache, nausea and sudden onset of visual disturbance. MRI showed a well-enhanced mass at the suprasellar region. Subtotal removal of the tumor was performed. However, tumor regrowth occurred after the operation (doubling time, 8.36 days) and spinal dissemination was detected. Therefore, chemotherapy and radiotherapy were administered focusing on the suprasellar lesion and the spinal cord. Pathologically, light micrographs showed rhabdoid cells with large, round, single or double nuclei with one prominent nucleolus and eosinophilic cytoplasmic inclusions. Electron micrographs were made of typical rhabdoid cells displaying bundles of intermediate filaments within the perikaryon. In immunohistochemical studies, EMA, vimentin, cytokeratin and SMA were positive. Pathological findings were consistent with those of MRT. Optimal treatment for this tumor has not been established. Our case may be useful in defining treatment for MRT.
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PMID:[Suprasellar primary malignant rhabdoid tumor in an adult: a case report]. 1076 34

The central nervous system atypical teratoid/rhabdoid tumor (ATRT) is a highly malignant tumor with a heterogeneous immunohistochemical profile and with some morphologic similarity to central nervous system primitive neuroectodermal tumors (PNET). Although several studies have investigated double immunolabeling in PNET, we are aware of no studies of double labeling of ATRT. A total of 10 ATRT from surgical and consultation materials at the Children's Hospital of Philadelphia were selected and stained for a variety of antigens using indirect immunofluorescence to detect single and double labeling. Most tumor cells showed only single labeling; rare cells showed double labeling as follows: 70% of tumors coexpressed (VIM) and glial fibrillary acidic protein (GFAP), 30% smooth muscle actin and GFAP, 20% epithelial membrane antigen (EMA) and VIM, 20% EMA/GFAP, and 20% EMA/SMA. These results are discussed in view of current debates over the histogenesis of CNS PNET and ATRT, and in reference to the classification of rhabdoid tumors as an entity or phenotype.
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PMID:Double immunolabeling of central nervous system atypical teratoid/rhabdoid tumors. 1510 8

Leiomyosarcomas (LMS) are the most common type of uterine sarcoma. Most LMS have typical histologic features, and variants such as epithelioid LMS, myxoid LMS, LMS with osteoclast-like giant cells and LMS with rhabdoid features occur only rarely. Rhabdoid cells were first described in rhabdoid tumor, a distinctive renal neoplasm of infancy. Such tumors are composed of diffuse proliferation of rhabdoid cells that are round or polygonal in shape with eccentric nuclei, prominent nucleoli and glassy eosinophilic cytoplasm containing hyaline-like inclusion bodies. In the literature, extrarenal localizations of malign rhabdoid tumors have been described in a variety of primary sites such as the central nervous system, liver, skin and soft tissues. These characteristic rhabdoid cells have been reported in sarcomas and carcinomas of various types and in a few cases of uterine sarcomas. The presence of rhabdoid cells in tumors is considered to be a predictor of aggressive tumor behavior. Our case is that of a 56-year-old woman who was admitted to the state hospital with left inguinal mass. Microscopically the tumor was admixed of three different types of cell with spindle, epithelioid or rhabdoid features. Immunopositive cytoplasmic staining for myoglobulin and desmin was seen in rhabdoid cells, and cytokeratin immunopositivity was observed in epithelioid and some rhabdoid cells. Epithelioid cells and spindle cells were also SMA positive. The histopathologic and immunohistochemical findings support the diagnosis of epithelioid LMS with rhabdoid features. We report this very uncommon LMS variant; to the best of our knowledge there are only a few cases in the English literature.
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PMID:Epithelioid leiomyosarcoma with rhabdoid features. 1794 9

Atypical teratoid rhabdoid tumor (AT/RT) is a highly malignant embryonal CNS tumor, generally unresponsive to any form of therapy, uniformly fatal within 1 year. We report 15 cases of AT/RT diagnosed at our center over a period of 5 years (2003-08). Tumors were located in different sites of the neuraxis, posterior fossa being the most common (n = 10) followed by cerebral lobes (n = 3). There was one each at the supra sellar and cervical spinal regions, respectively. Radiologically most of the tumors were heterodense and enhancing heterogeneously. The tumors exhibited diverse histological profile that included rhabdoid and PNET areas in all cases, mesenchymal and epithelial areas in 73.3% and 53.3% cases, respectively. Necrosis was evident in all cases and one showed calcification. Tumor cells displayed a polyphenotypic immunoprofile. All cases were consistently positive for vimentin and epithelial membrane antigen and were negative for desmin. Variable positivity was seen for other markers. The number of cases positive for these were: CK (53%), SMA (60%), synaptophysin (66%), NFP (33.3%) and GFAP (85%). CK staining was prominent in epithelial areas, while PNET cells labeled prominently with synaptophysin. There was lack of INI1 expression in all cases. Follow-up was available in 46.6% of cases which revealed a uniform poor prognosis.
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PMID:Histological and immunohistochemical characterization of AT/RT: a report of 15 cases from India. 1992 61

A new case of soft tissue myoepithelial carcinoma (MEC) with rhabdoid-like differentiation is presented including cytologic, histopathologic, immunohistochemical, and molecular biologic features. A 45-year-old woman was admitted to the Hospital with nodular mass involving the lower part of the abdominal wall. Fine-needle aspiration cytology showed a round cell tumor with abundant cytoplasm in the myxoid background. The nuclei were uniform, round to ovoid, with finely distributed chromatin, nucleoli, and pale, vacuolated, or eosinophilic cytoplasm with rhabdoid-like appearance resembling a soft tissue malignant rhabdoid tumor. The surgically removed tumor was poorly demarcated, yellow, soft, and myxoid. The histopathology revealed sheets of poorly differentiated round malignant cells with focal myxoid stroma and rhabdoid-like morphology. Immunohistochemistry showed positivity for CK (AE1/AE3), EMA, S100, vimentin, CD99, and SMA; however desmin, CD34, and gliofibrilar acid protein (GFAP) were negative. Tumor cells revealed loss of INI1 expression. The EWSR1 gene rearrangement was detected by fluorescence in situ hybridization (FISH), but molecular biology failed to detect EWSR1/ETS, EWSR1/NR4A3, EWSR1/DDIT3, EWSR1/ATF1, EWSR1-POU5F1, EWSR1/ZNF444, EWSR1-PBX1 gene fusions. The final diagnosis was soft tissue malignant myoepithelioma with rhabdoid changes and EWSR1 gene rearrangement. The differential diagnosis included soft tissue malignant rhabdoid tumor, cellular extraskeletal myxoid chondrosarcoma, proximal epithelioid sarcoma, and other soft tissue tumor with EWSR1 rearrangement. To our knowledge, this is the first case of MEC with rhabdoid features and description of fine-needle aspiration cytology.
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PMID:Soft tissue myoepithelial carcinoma with rhabdoid-like features and EWSR1 rearrangement: Fine needle aspiration cytology with histologic correlation. 2569 74