本文選題：AML + WT1��； 參考：《重慶醫(yī)科大學(xué)》2012年碩士論文

【摘要】：目的：兒童AML的發(fā)病率較低，且尚沒有關(guān)于我國兒童AML中WT1的突變及單核苷酸rs16754多態(tài)性分析及與預(yù)后相關(guān)性分析的報(bào)道，通過研究可以揭示W(wǎng)T1在我國兒童AML中的突變頻率及與預(yù)后的關(guān)系，從而發(fā)現(xiàn)AML新的臨床預(yù)后指標(biāo)及發(fā)病途徑。 方法：通過對127例兒童AML初診患者的骨髓進(jìn)行血液病染色體、融合基因及FISH檢查，根據(jù)SWOG把病例歸納為不同的預(yù)后風(fēng)險(xiǎn)級別，對其中的86例進(jìn)行WT1基因突變分析及rs16754基因多態(tài)性的分析。 結(jié)果：WT1基因突變率為20%，多發(fā)生于第7外顯子與第9外顯子，，WT1突變組與WT1野生組的總生存期與無病生存期沒有差異。WT1第7外顯子的rs16754多態(tài)性分析顯示G是出現(xiàn)頻率最多的等位基因，rs16754~(GG)與rs16754~(GA)頻率分別為54.2%和37.5%。rs16754~(GG)病人的總的生存率（OS）及無病生存率（RFS）較rs16754~(GA/AA)病人高(p=0.020；p=0.025)；在CEBPA野生型的病例中，rs16754~(GG)病人OS（p=0.068）及RFS（p=0.044）較高于rs16754~(GA/AA)病人組。 討論：我們的數(shù)據(jù)表明，WT1的突變與疾病的預(yù)后沒有關(guān)聯(lián)。我們進(jìn)一步研究揭示在第7外顯子上rs16754等位基因多態(tài)性的改變，我們數(shù)據(jù)證明rs16754~(GG)病人的總的生存率（OS）及無病生存率（RFS）較rs16754~(GA/AA)病人高，這個(gè)趨勢同樣存在于CEBPA未突變的病例。
[Abstract]:Objective: the incidence of AML in children is relatively low, and there are no reports on the mutation of WT1 and the analysis of single nucleotide rs16754 polymorphism in Chinese children with AML and their correlation with prognosis. The mutation frequency of WT1 in Chinese children with AML and its relationship with prognosis can be revealed by the study, and a new clinical prognostic index and pathogenetic pathway of AML can be found. Methods: bone marrow samples from 127 children with AML were examined for hematological chromosomes, fusion genes and FISH. According to SWOG, the patients were classified into different prognostic risk levels. The mutation of WT1 gene and the polymorphism of rs16754 gene were analyzed in 86 cases. Results there was no difference between the total survival time and disease-free survival of WT1 gene mutation in exon 7 and exon 9 and in the wild group of WT1. The rs16754 polymorphism analysis of exon 7 of WT1 showed that G was the frequency of occurrence. The frequencies of rs16754 (GG) and rs16754 (GGG) were 54.2% and 37.5.rs16754 / GGG, respectively. The overall survival rate and disease-free survival rate (RFSs) were higher in rs16754 GGG and rs16754 GGG (rs16754 GGG) than in rs16754 GGG (rs16754 GGG) and RFSp0.044) compared with rs16754 GGG (rs16754 GGG) and RFSp0.044). Discussion: our data suggest that mutation of WT1 is not associated with disease prognosis. Our further study revealed a change in the rs16754 allele polymorphism at exon 7. Our data showed that the overall survival rate and disease-free survival rate of rs16754 / GG patients were higher than those of rs16754 / GA / AAA patients, and this trend was also present in patients without CEBPA mutation.
【學(xué)位授予單位】：重慶醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2012
【分類號】：R733.7

【參考文獻(xiàn)】

相關(guān)期刊論文 前2條

1 王杰;王彤;李樹;林莉;Q

本文編號：1877235