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DICER1 syndrome is a syndrome of high pleiotropic predisposition to tumors, which has been gaining increasing recognition in the last 10 years. Diseases with this syndrome arise as a result of mutations in both copies of DICER1, a highly conserved gene that is critically involved in the biogenesis of microribonucleic acid (microRNA) and, consequently, in the modulation of messenger RNAs. Some individuals carry an inherited germ line mutation that disables one copy of DICER1. In turn, these tumors associated with DICER1 are very characterized by a second mutation or "second push", which, in turn, changes the function of another copy of the gene. About 20 hamartomatous, hyperplastic or neoplastic conditions include DICER1 syndrome. Most of them do not pose a threat to life, but some are aggressive malignant neoplasms. The hallmarks of DICER1 syndrome are some rare tumors, including pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumor of the ovaries, sarcomas of the cervix, kidneys and brain, pituitary blastoma, medulloepithelioma of the ciliary body and chondromesenchymal hamartoma of the nose. Currently, diagnosis of DICER1 syndrome is still performed late, usually after surgery, which affects patient outcomes.
Materials and methods: Materials from PubMed and PubMed Central resources of the National Medical Academy were used to analyze the literatureUS Libraries, Google Scholar, Elsevier Clinical Key and Elsevier Science Direct.The sample consisted of scientific papers on DICER1 syndrome. Only articles in English that contained original research results or reviews on the topic were included. Articles that were unrelated to the research topic, were duplicates, or were not available in full text were excluded from the sample. As a result, 25 articles were selected. To analyzethe scientific literature, a qualitative method based on content analysis, namely the definition of analysis units - headings, annotations and keywords of articles; calculation of the frequency and percentage distribution of analysis units by analysis categories using Excel; interpretation and generalization of the analysis results.
Keywords:DICER1 syndrome, micro-RNA, gene, pleuropulmonary blastoma,
embryonic rhabdomyosarcoma.
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