Presence of new mutations in the TP53 gene in patients with low-risk myelodysplastic syndrome: two case reports.

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.

Clinical events and their relation to the tumor necrosis factor-alpha and interleukin-10 genotypes in Sickle-Cell-Anemia patients.

OBJECTIVE/BACKGROUND: Sickle-cell anemia (SCA) is a genetic blood disease characterized by chronic inflammation and a heterogeneous clinical picture. Serum tumor necrosis factor (TNF-alpha) and interleukin 10 (IL-10) levels are associated with the clinical course of SCA. This study aimed to evaluate the association between the frequency of the polymorphisms TNF-alpha-308 G→A, IL-10-1082 G→A, IL-10-819 C→T, and IL-10-592 A→C; serum TNF-alpha; and IL-10 levels, and the incidence of clinical events in SCA patients. METHODS: Polymerase chain reaction-restriction fragment length polymorphism and enzyme-linked immunosorbent assay were performed on 25 adults with SCA at the steady state; their data were compared with those for 26 healthy individuals. RESULTS: The most frequent genotype of the TNF-alpha polymorphism was GG (low producer), and the most frequent genotype of the IL-10 polymorphisms was "low producer" (ACC ACC, ACC ATA, ATA ATA). The TNF-alpha levels were significantly higher in SCA in patients with acute chest syndrome (ACS). The IL-10 levels were reduced in polytransfusion and in patients with ACS. CONCLUSION: The patients presented prevalence of TNF-alpha and IL-10 low-profile producer. The cytokine serum levels presented an association with the presence of polytransfusion and ACS in SCA patients.