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dc.contributor.authorDuarte, Fernando Barroso-
dc.contributor.authorLemes, Romélia Pinheiro Gonçalves-
dc.contributor.authorSantos, Talyta Ellen de Jesus dos-
dc.contributor.authorBarbosa, Maritza Cavalcante-
dc.contributor.authorVasconcelos, João Paulo Leitão de-
dc.contributor.authorRocha-Filho, Francisco Dário-
dc.contributor.authorZalcberg, Ilana-
dc.contributor.authorCoutinho, Diego-
dc.contributor.authorFigueiredo, Monalisa Feliciano-
dc.contributor.authorCarlos, Luciana Barros-
dc.contributor.authorVasconcelos, Paulo Roberto Leitão de-
dc.date.accessioned2017-09-05T12:16:44Z-
dc.date.available2017-09-05T12:16:44Z-
dc.date.issued2017-05-
dc.identifier.citationDUARTE, F. B. et al. Presence of new mutations in the TP53 gene in patients with low-risk myelodysplastic syndrome : two case reports. Journal of medical case reports, v. 11, p. 1-4, maio, 2017.pt_BR
dc.identifier.issn1752-1947-
dc.identifier.urihttp://www.repositorio.ufc.br/handle/riufc/25464-
dc.description.abstractBackground Myelodysplastic syndromes are heterogeneous disorders. Patients with myelodysplastic syndrome disease often have ineffective hematopoiesis, cytopenias, blood cell dysplasia in one or more cell types, and are at high risk for developing acute myeloid leukemia. In myelodysplastic syndrome, mutations of TP53 gene are usually associated with complex karyotype and confer a worse prognosis. In the present study, two mutations in this gene are presented and discussed with the clinical evolution of the patients. Case presentation The first case is a 77-year-old Brazilian woman diagnosed as having multiple lineage dysplasia myelodysplastic syndrome according to World Health Organization 2016 and classified as very low-risk by Revised International Prognostic Scoring. The second case is an 80-year-old Brazilian man also diagnosed as having multiple lineage dysplasia myelodysplastic syndrome and classified as low risk. The mutation described in the first case was already identified in some neoplasias and it is associated with a poor prognosis, but it had never been reported before in myelodysplastic syndrome. The second mutation has never been described. Conclusions This is a novel report for the scientific community and may be very helpful as we can better understand the disease and the impact of mutations through the follow-up of these patients and others in the future. Both patients are in a good clinical condition, suggesting that these mutations may not alter the clinical course of the disease or may be associated with a good prognosis, but their role in the disease must be investigated more deeply in a larger population.pt_BR
dc.language.isoenpt_BR
dc.publisherJournal of medical case reportspt_BR
dc.subjectSíndromes Mielodisplásicaspt_BR
dc.subjectMyelodysplastic Syndromespt_BR
dc.subjectGenes p53pt_BR
dc.titlePresence of new mutations in the TP53 gene in patients with low-risk myelodysplastic syndrome : two case reportspt_BR
dc.typeArtigo de Periódicopt_BR
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