Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0035412 (rhabdomyosarcoma)
 6,156 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Characteristic chromosome aberrations and the rearranged genes resulting in chimeric fusion genes have been reported in some bone and soft tissue tumors; t(X; 18) in synovial sarcoma, t(11; 22) in Ewing's sarcoma and primitive neuroectodermal tumor, and t(2; 13) in alveolar rhabdomyosarcoma. We practically used the chromosome analysis and the reverse transcription-polymerase chain reaction (PCR) method as a tool for diagnosis and follow up. All of 10 cases of synovial sarcoma had a chimeric product of SYT/SSX gene. Eleven cases of Ewing's sarcoma and primitive neuroectodermal tumor showed 6 variants of chimeric products between EWS gene and Fli1 gene in the PCR-directed sequence analysis. Although PAX3/FKHD or PAX7/FKHD transcripts were amplified in alveolar rhabdomyosarcoma cases, MyoD1 and myogenin gene which are myogenic transcription factor were also expressed in most rhabdomyosarcomas. These findings indicate that molecular biological analysis may be a useful supplementary method for pathologic diagnosis of bone and soft tissue tumors.
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PMID:[Pathologic diagnosis on bone and soft tissue tumors by molecular biological methods]. 925 13

A number of solid tumors, such as alveolar rhabdomyosarcoma, synovial sarcoma, and myxoid liposarcoma, are associated with recurrent translocation events that encode fusion proteins. Ewing's sarcoma is a pediatric tumor that serves as a prototype for this tumor class. Ewing's sarcomas usually harbor the (11;22)(q24;q12) translocation. The t(11;22) encodes the EWS/FLI fusion oncoprotein. EWS/FLI functions as an aberrant transcription factor, but the key target genes that are involved in oncogenesis are largely unknown. Although some target genes have been defined, many of these have been identified in heterologous model systems with uncertain relevance to the human disease. To understand the function of EWS/FLI and its targets in a more clinically relevant system, we used retroviral-mediated RNAi to "knock-down" the fusion protein in patient-derived Ewing's sarcoma cell lines. By combining transcriptional profiling data from three of these lines, we identified a conserved transcriptional response to EWS/FLI. The gene that was most reproducibly up-regulated by EWS/FLI was NR0B1. NR0B1 is a developmentally important orphan nuclear receptor with no previously defined role in oncogenesis. We validated NR0B1 as an EWS/FLI-dysregulated gene and confirmed its expression in primary human tumor samples. Functional studies revealed that ongoing NR0B1 expression is required for the transformed phenotype of Ewing's sarcoma. These studies define a new role for NR0B1 in oncogenic transformation and emphasize the utility of analyzing the function of EWS/FLI in Ewing's sarcoma cells.
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PMID:NR0B1 is required for the oncogenic phenotype mediated by EWS/FLI in Ewing's sarcoma. 1711 43

Primary Ewing Sarcoma of the cranial bone is rare, contributing to only 1% of all Ewing Sarcomas. Primary cranial Ewing Sarcoma occurs most commonly in temporal bone followed by parietal and occipital bones. Sphenoid bone is less commonly involved. We report a case of Ewing Sarcoma of the sphenoid bone with intra-cranial extension in a 20-month-old boy. On CT scan a provisional diagnosis of rhabdomyosarcoma was made. Fine Needle Aspiration Cytology (FNAC) and histopathological examination of core needle biopsy showed small round cell tumour. On Immunohistochemistry (IHC), CD99 (MIC2) and FLI 1 were strongly positive and final diagnosis of Ewing Sarcoma was made. Considering the rarity of this unusual site, we report a case of primary Ewing Sarcoma arising in the sphenoid bone with erosion of adjacent bones and intra-cranial extension.
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PMID:Primary Ewing Sarcoma of Sphenoid Bone with Intracranial Extension: A Common Tumour at an Uncommon Location. 2838 76