Hematology and Hemotherapy Center - University of Campinas / Hemocentro-Unicamp, Instituto Nacional de Ciencia e Tecnologia do Sangue, Campinas, Sao Paulo, Brazil.
Neoplasma. 2012;59(5):530-5. doi: 10.4149/neo_2012_068.
MDM2/p53 pathway plays an important role in the control of apoptotic and proliferation mechanisms, and alterations in this pathway have been described in myelodysplastic syndromes (MDS). We investigated the frequency of MDM2 SNP309, TP53 Arg72Pro polymorphisms in de novo MDS and the association of these polymorphisms with clinical characteristics. Our results showed that the frequencies of genotypes for MDM2 SNP309 and TP53 Arg72Pro did not differ between MDS and healthy controls and that these polymorphisms were not associated with clinical and laboratory parameters, disease progression and overall survival, suggesting that MDM2 and TP53 polymorphisms are not involved in risk for MDS, or in the clinical and laboratory characteristics of the disease.
MDM2/p53 通路在凋亡和增殖机制的控制中起着重要作用，髓系发育异常综合征（MDS）中该通路的改变已被描述。我们研究了 MDM2 SNP309 和 TP53 Arg72Pro 多态性在初发性 MDS 中的频率，以及这些多态性与临床特征的关系。我们的结果表明，MDS 和健康对照组之间 MDM2 SNP309 和 TP53 Arg72Pro 基因型的频率没有差异，这些多态性与临床和实验室参数、疾病进展和总生存期无关，表明 MDM2 和 TP53 多态性不参与 MDS 的风险，也不参与疾病的临床和实验室特征。
