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Title in Portuguese: Presence of new mutations in the TP53 gene in patients with low-risk myelodysplastic syndrome : two case reports
Author: Duarte, Fernando Barroso
Lemes, Romélia Pinheiro Gonçalves
Santos, Talyta Ellen de Jesus dos
Barbosa, Maritza Cavalcante
Vasconcelos, João Paulo Leitão de
Rocha-Filho, Francisco Dário
Zalcberg, Ilana
Coutinho, Diego
Figueiredo, Monalisa Feliciano
Carlos, Luciana Barros
Vasconcelos, Paulo Roberto Leitão de
Keywords: Síndromes Mielodisplásicas
Myelodysplastic Syndromes
Genes p53
Issue Date: May-2017
Publisher: Journal of medical case reports
Citation: DUARTE, 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.
Abstract: Background 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.
ISSN: 1752-1947
Appears in Collections:DCIR - Artigos publicados em revista científica

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