Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:2.7.7.49 (reverse transcriptase)
31,746 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report 2 primary renal synovial sarcoma. These tumors were formerly designated as embryonal cystic sarcoma of the kidney. Most cases are diagnosed between the ages of 20 and 50 years. Some cases show local recurrence after nephrectomy. On gross examination, tumors are large, partially necrotic, and usually contain cysts. Microscopically, tumors are characterized by monomorphic plump spindle cells. The cysts are lined by mitotically inactive epithelial cells without striking cellular atypia. The spindle cells were immunoreactive for EMA, CD56, and sometimes for CD99. They were non-reactive for desmin, actin, S 100, and cytokeratins. The cyst epithelium is cytokeratin positive. The presence of a SYT-SSX gene fusion resulting from the t(X;18) characteristic for synovial sarcoma was demonstrated by reverse transcriptase polymerase chain reaction in both tumors. Primary renal synovial sarcoma is a distinctive tumor entity, which should be considered in renal tumors consisting of spindle cells.
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PMID:[Primary renal synovial sarcoma. A new entity in the morphological spectrum of spindle cell renal tumors]. 1460 53

We describe a case of a poorly differentiated monophasic synovial sarcoma arising in the lung of a 50-year-old man. The tumor, which was located in the right upper lobe, was lobulated, relatively well-circumscribed, and whitish to yellowish in color. Microscopically, it was composed exclusively of ovoid to polygonal or short spindle cells, with a high nuclear to cytoplasmic ratio and relatively scant cytoplasm, arranged in solid sheets or in a hemangiopericytomatous pattern with intervening wiry collagen fibers. At the periphery of the tumor, entrapped benign alveolar epithelium produced a pseudo-biphasic appearance. In some areas, an abundance of keloidal collagen imparted a close resemblance to a solitary fibrous tumor, making it difficult to establish the diagnosis on the initial needle biopsy, although the malignant nature of the tumor was suggested because of nuclear anaplasia. Immunohistochemically, the tumor was positive for cytokeratin AE1/AE3, CAM5.2, EMA, vimentin, bcl-2 protein, calretinin, and CD34. The reverse transcriptase-polymerase chain reaction (RT-PCR), using RNA extracted from fresh-frozen tissue, demonstrated SYT/SSX-1 fusion transcripts, confirming the diagnosis of synovial sarcoma. Microscopic examination demonstrated metastatic deposits in hilar lymph nodes. This case indicates that a primary pulmonary synovial sarcoma, particularly in its poorly differentiated form, is a diagnostically challenging and highly aggressive neoplasm typically found at an advanced stage.
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PMID:Primary poorly differentiated monophasic synovial sarcoma of the lung. A case report with immunohistochemical and genetic studies. 1864 80

The purpose of our study was to assess microinvasion in a case of synovial sarcoma by means of the reverse transcriptase polymerase chain reaction (RT-PCR) for detecting SYT-SSX fusion transcripts. Furthermore, we tried to compare the RT-PCR results with those obtained by conventional histopathological examination. A 45-year-old man with synovial sarcoma in the left lower leg underwent above-knee amputation and partial resection of the right lung because of local recurrence and metastasis to the lung. We obtained samples from the tumor and from locations at distances of 1, 3, and 5 cm from the tumor margin in the amputated limb. Samples were also obtained from the resected pulmonary tumor and peripheral blood. SYT-SSX1 chimeric genes could be detected in the samples obtained from up to 3 cm outside the tumor by RT-PCR. Histopathological examination confirmed tumor cells up to 1 cm from the tumor margin. We believe that using a molecular assay in addition to a histopathological examination provides a more sensitive and accurate assessment of the surgical margin.
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PMID:Assessment of microinvasion with reverse transcriptase polymerase chain reaction in a case of synovial sarcoma. 1504 45

We report 3 cases of synovial sarcoma with rhabdoid features, initially diagnosed as adult rhabdoid tumors. Two women (case nos. 1 and 2, 35 years and 27 years of age, respectively) and one man (case no. 3, 26 years of age) presented to their physicians with right flank pain. On physical examination, a poorly defined, firm, palpable mass was found in the upper right quadrant of the abdomen in all cases. Sonography and computed tomography revealed solid, cystic masses in the right kidneys that ranged in size from 8.5 to 20.0 cm. Right radical nephrectomies were performed in all patients. One patient died of disease, and the other two patients were alive and disease-free after chemotherapy and radiotherapy. Microscopic examination revealed that the tumors were composed mostly of rhabdoid cells with eccentrically located nuclei, prominent nucleoli, and eosinophilic cytoplasm. We also found areas of fasciculated spindle cells, sharply separated from or irregularly admixed with areas of rhabdoid cells. There was tumor necrosis, but no epithelial areas were seen. Hemangiopericytic vasculature was at least focally observed in all cases. The tumor cells were positive for CD99 and bcl-2 in all cases and for CD56 in two cases and negative for CD34 and smooth muscle actin in all cases. The cells in case no. 1 were focally positive for cytokeratin. To verify the possibility of synovial sarcoma with rhabdoid features, reverse transcriptase polymerase chain reaction using RNA extracted from frozen tissue in case no. 1 and formalin-fixed, paraffin-embedded tissue in case nos. 2 and 3 was performed. SYT-SSX2 transcripts were detected in all 3 cases. These cases indicate that synovial sarcoma of the kidney should be considered in the differential diagnosis of mesenchymal kidney tumors with prominent rhabdoid features. A subset of adult rhabdoid tumors may be a rhabdoid variant of synovial sarcoma, and molecular studies to detect SYT-SSX fusion transcripts are recommended for an accurate diagnosis.
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PMID:Synovial sarcoma of the kidney with rhabdoid features: report of three cases. 1510 52

Synovial sarcomas usually occur in the soft tissues of the extremities of adolescents and middle-aged patients, in the vicinity of large joints. We present a patient with a synovial sarcoma of the left atrium and ventricle, which is an extremely rare location. Diagnosis was confirmed by reverse transcriptase polymerase chain reaction (RT-PCR), showing the t(X;18) fusion transcript. With a multicolor COmbined Binary RAtio labeling Fluorescence In Situ Hybridization (COBRA-FISH) technique, a complex karyotype evolved with identification of derivative chromosomes with multiplex rearrangements. This underscores the importance of molecular analysis of spindle cell tumors in unusual locations. Moreover, it shows that the presumed diagnostic translocation t(X;18) can be embedded in a sequence of other chromosomal rearrangements of which the function is as yet unknown.
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PMID:Primary synovial sarcoma of the heart: a cytogenetic and molecular genetic analysis combining RT-PCR and COBRA-FISH of a case with a complex karyotype. 1549 10

The origin of a ring chromosome in a monophasic synovial sarcoma of the diaphragmatic pleura of an 18-year-old man was investigated using spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH). Conventional cytogenetic analysis revealed the following clonal karyotypic abnormalities: 47,Y,t(X;18)(p11.2;q11.2),t(11;19)(q12;q13.4),+12,-13,+r[6]. The SYT-SSX1 fusion transcript was detected with reverse transcriptase-polymerase chain reaction analysis. SKY analysis suggested that the ring chromosome was composed of material from chromosome 8. Subsequent FISH analysis with a whole-chromosome 8 paint probe confirmed the SKY results. This study demonstrates the usefulness of SKY as an adjunct for determining the chromosomal composition of ring chromosomes.
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PMID:Identification of a ring chromosome with spectral karyotyping in a pleural synovial sarcoma. 1599 75

A 45 -year-old woman presented chest pain and a well-defined oval shaped mass on a chest radiograph. A malignant pulmonary tumor was suspected and a right pneumonectomy was performed. The tumor measured about 13 x 12 cm, was pale-yellow in color and soft in texture. Histologically, it had round to oval and spindle-shaped cells with minimal cytoplasm, hyperchromatic nuclei, inconspicuous mitoses and only slight fibrous stroma. Immunohistochemically, the tumor cells were positive for vimentin, CD 99, BCL-2 protein and EMA. The reverse transcriptase-polymerase chain reaction (RT-PCR), using RNA extracted from fresh-frozen tissue, demonstrated SYT/SSX-2 fusion transcripts, confirming the diagnosis of synovial sarcoma.
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PMID:Primary synovial sarcoma of the lung. 1677 40

It is now well recognized that chromosomal translocation followed by overexpression of a chimeric gene product plays a critical role in tumorigenicity in various malignant tumors, especially those of leukemia, malignant lymphoma, and soft-tissue tumors. In these malignant tumors, specific chimeric gene products are directly related to tumorigenicity. Therefore, if chimeric gene products could be observed in situ, it would be advantageous not only for the correct diagnosis of each tumor but also to improve our understanding of the basis of tumorigenicity. Accordingly, it would seem that reverse transcriptase (RT) in situ polymerase chain reaction (PCR) is a powerful and useful approach for the study of chimeric gene products in situ. Here, we introduce the application of RT in situ PCR to detect a hybrid, SYT-SSX messenger RNA in synovial sarcoma. We expect that the principle of this protocol also may be applied to detect other chimeric gene products.
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PMID:Application of reverse transcription in situ PCR in cancer analysis. 1686 63

Synovial Sarcoma consistently harbors t(X;18) resulting in SS18-SSX1, SS18-SSX2 and rarely SS18-SSX4 fusion transcripts. Of 328 cases included in our study, synovial sarcoma was either the primary diagnosis or was very high in the differential diagnosis in 134 cases: of these, amplifiable cDNA was obtained from 131. SS18-SSX fusion products were found in 126 (96%) cases (74 SS18-SSX1, 52 SS18-SSX2), using quantitative and 120 by conventional reverse transcriptase-polymerase chain reaction (RT-PCR). One hundred and one cases in a tissue microarray, analyzed by fluorescence in situ hybridization (FISH), revealed that 87 (86%) showed SS18 rearrangement: four RT-PCR positive cases, reported as negative for FISH, showed loss of one spectrum green signal, and 15 cases had multiple copies of the SS18 gene: both findings are potentially problematic when interpreting results. One of three cases, not analyzed by RT-PCR reaction owing to poor quality RNA, was positive by FISH. SS18-SSX1 was present in 56 monophasic and 18 biphasic synovial sarcoma: SS18-SSX2 was detected in 41 monophasic and 11 biphasic synovial sarcoma. Poorly differentiated areas were identified in 44 cases (31%). There was no statistically significant association between biphasic, monophasic and fusion type. Five cases were negative for SS18 rearrangement by all methods, three of which were pleural-sited neoplasms. Following clinical input, a diagnosis of mesothelioma was favored in one case, a sarcoma, not otherwise specified in another and a solitary fibrous tumor in the third case. The possibility of a malignant peripheral nerve sheath tumor could not be excluded in the other two cases. We concluded that the employment of a combination of molecular approaches is a powerful aid to diagnosing synovial sarcoma giving at least 96% sensitivity and 100% specificity but results must be interpreted in the light of other modalities such as clinical findings and immunohistochemical data.
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PMID:Detection of SS18-SSX fusion transcripts in formalin-fixed paraffin-embedded neoplasms: analysis of conventional RT-PCR, qRT-PCR and dual color FISH as diagnostic tools for synovial sarcoma. 1733 49

The diagnosis of sarcomatoid mesothelioma is still a worldwide challenge and it is often difficult, both clinically and by morphological analysis, to differentiate sarcomatoid mesothelioma from synovial sarcoma, the most frequent intrathoracic sarcoma. To confirm the absence of the synovial sarcoma translocation t(X; 18) (SYT-SSX) in sarcomatoid mesothelioma, and to test its usefulness differentiating sarcomatoid mesothelioma from synovial sarcoma, 28 tumours were examined using the reverse transcriptase-polymerase chain reaction. RNA was extracted from paraffin blocks using standard methods, reverse-transcribed and PCR performed. Molecular analysis completed in two independent laboratories showed that sarcomatoid mesothelioma samples were negative for the t(X-18). This result confirms the usefulness of this analysis in differentiating sarcomatoid mesothelioma from synovial sarcoma.
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PMID:SYT-SSX fusion is absent in sarcomatoid mesothelioma allowing its distinction from synovial sarcoma of the pleura. 1750 90


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