Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.7.7.48 (transcriptase)
 9,479 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Bone and soft tissue sarcomas are diagnostically challenging. Recognition of specific cytogenetic abnormalities in these neoplasms has significantly reduced some of the associated difficulties and has provided valuable information on histopathogenesis. Commonly, translocations involving an exchange of chromosomal material and creation of novel chimeric genes are detected. These fusion genes frequently function as aberrant transcription factors that contribute to sarcomagenesis. New studies indicate that less commonly occurring variant fusion genes are also present in some tumors, eg, Ewing's sarcoma and alveolar rhabdomyosarcoma. The clinical consequences, if any, of these variant hybrids are not yet known. Reverse transcriptase polymerase chain reaction and are useful approaches in detecting these transcripts. In addition to translocations, supernumerary ring chromosomes are often encountered in sarcomas, particularly those of intermediate or borderline malignancy. Traditional fluorescence in situ hybridization, and recently, comparative genomic hybridization have uncovered the chromosomal composition of these rings as well as some associated gene amplifications in well-differentiated liposarcoma and dermatofibrosarcoma protuberans.
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PMID:Cytogenetics and experimental models of sarcomas. 757 81

Fusion of the collagen type I a 1 (COL1A1) gene with the platelet-derived growth factor B-chain (PDGFB) gene has been pointed out in dermatofibrosarcoma protuberans. Various exons of the COL1A1 gene have been shown to be involved in the fusion with exon 2 of the PDGFB gene. We studied the breakpoints of the COL1A1 gene using formalin-fixed, paraffin-embedded tumour specimens from five patients with dermatofibrosarcoma protuberans (three reconfirmations and two new cases). Reverse transcriptase-PCR was performed using paraffin-embedded tissues. Nucleotide sequence analysis was carried out using the PCR products to identify the breakpoints. The COL1A1-PDGFB fusion transcripts were detected from the tumour specimens. Sequence analysis revealed that the ends of exons 18, 29, 38, 42 and 44 in the COL1A1 gene were fused with the start of exon 2 in the PDGFB. This study identified a novel COL1A1 breakpoint, namely, exon 44 of the COL1A1 gene. Detection of the aberrant fusion transcript using formalin-fixed, paraffin-embedded tumour specimens is useful as a diagnostic aid for dermatofibrosarcoma protuberans in cases where fresh or frozen samples of tumour tissue are not available.
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PMID:Gene mutation analysis in five cases of dermatofibrosarcoma protuberans using formalin-fixed, paraffin-embedded tissues. 1604 Apr 6