目的:探讨急性髓系白血病(AML)患者骨髓WT1基因的表达与预后的关系。方法:应用实时定量逆转录PCR方法检测122例初诊AML患者骨髓WT1基因的表达水平,并进行初次诱导化疗缓解率(CR1)及2 a无白血病生存率(LFS)和总生存率(OS)的分析。对照组...目的:探讨急性髓系白血病(AML)患者骨髓WT1基因的表达与预后的关系。方法:应用实时定量逆转录PCR方法检测122例初诊AML患者骨髓WT1基因的表达水平,并进行初次诱导化疗缓解率(CR1)及2 a无白血病生存率(LFS)和总生存率(OS)的分析。对照组为21例非白血病患者或造血干细胞移植健康供者。结果:对照组骨髓WT1基因表达水平为0.007(0.002,0.080);AML组为0.677(0.336,0.763),明显高于对照组(Z=2.620,P<0.001)。AML-M3患者WT1基因高表达组与低表达组CR1、2 a LFS和OS无差异。AML(非M3)患者WT1基因低表达组CR1为82.6%(38/46),高表达组为52.3%(23/44),两组比较,差异有统计学意义(χ2=9.476,P=0.002);两组的总生存曲线和无白血病生存曲线差异有统计学意义(χ2=5.410、4.698,P<0.05),高表达组2 a OS(36.0%)和LFS(33.3%)均低于低表达组(57.7%和53.7%)。结论:骨髓WT1基因表达水平是预测AML预后的有效监测指标。展开更多
Background Wilms＇ tumor （nephroblastoma） is the most common pediatric kidney cancer. Only one Wilms＇ tumor gene is known, WT1 at 11p13, which is mutated in 5%-10% of Wilms＇ tumors. Recently, mutations were report...Background Wilms＇ tumor （nephroblastoma） is the most common pediatric kidney cancer. Only one Wilms＇ tumor gene is known, WT1 at 11p13, which is mutated in 5%-10% of Wilms＇ tumors. Recently, mutations were reported in WTX at Xq11.1 in Wilms＇ tumors. This study investigated the mutation proportion, type, and distribution in WTX and WT1 in children with Wilms＇ tumor. The role of WTX/WT1 in the development of Wilms＇ tumor, and the relationship between clinical phenotype and genotype, were also studied. Methods Wilms＇ tumor specimens （blood samples from 70 patients and tumor tissue samples from 52 patients） were used. A long fragment of WTXand 10 exons and intron sequences of WT1 were amplified by polymerase chain reaction （PCR） from extracted genomic DNA and sequenced. A chi-square test compared the difference between the W-/-X mutation group and the no mutation group. The relationship between the mutations and clinical phenotype was analyzed. Results W7X mutations were found in 5/52 tumor tissues and in 2/70 peripheral blood samples （five cases in total, all point mutations）. Two patients had a WTX mutation in both samples. WT1 mutations were found in 2/52 tumor tissues and in 4/70 peripheral blood samples （five cases in total, all point mutations）. One patient had a WT1 mutation in both samples. Ten cases had WTX or WT1 mutation （19.2% of Wilms＇ tumors）. No overlapping WTX and WTI mutations were found. No significant differences in clinical parameters were found between patients with and without a W7X mutation. Conclusions WTX mutations occur early in Wilms＇ tumor development, but at a low proportion. There was no evidence that WTX is the main cause of Wilms＇ tumor. Clinical parameters of patients with WTX mutations are not related to the mutation, indicating a limited impact of WTX on tumor progression. WTX and WT1 mutations occur independently, suggesting a relationship between their gene products.展开更多
文摘目的:探讨急性髓系白血病(AML)患者骨髓WT1基因的表达与预后的关系。方法:应用实时定量逆转录PCR方法检测122例初诊AML患者骨髓WT1基因的表达水平,并进行初次诱导化疗缓解率(CR1)及2 a无白血病生存率(LFS)和总生存率(OS)的分析。对照组为21例非白血病患者或造血干细胞移植健康供者。结果:对照组骨髓WT1基因表达水平为0.007(0.002,0.080);AML组为0.677(0.336,0.763),明显高于对照组(Z=2.620,P<0.001)。AML-M3患者WT1基因高表达组与低表达组CR1、2 a LFS和OS无差异。AML(非M3)患者WT1基因低表达组CR1为82.6%(38/46),高表达组为52.3%(23/44),两组比较,差异有统计学意义(χ2=9.476,P=0.002);两组的总生存曲线和无白血病生存曲线差异有统计学意义(χ2=5.410、4.698,P<0.05),高表达组2 a OS(36.0%)和LFS(33.3%)均低于低表达组(57.7%和53.7%)。结论:骨髓WT1基因表达水平是预测AML预后的有效监测指标。
文摘Background Wilms＇ tumor （nephroblastoma） is the most common pediatric kidney cancer. Only one Wilms＇ tumor gene is known, WT1 at 11p13, which is mutated in 5%-10% of Wilms＇ tumors. Recently, mutations were reported in WTX at Xq11.1 in Wilms＇ tumors. This study investigated the mutation proportion, type, and distribution in WTX and WT1 in children with Wilms＇ tumor. The role of WTX/WT1 in the development of Wilms＇ tumor, and the relationship between clinical phenotype and genotype, were also studied. Methods Wilms＇ tumor specimens （blood samples from 70 patients and tumor tissue samples from 52 patients） were used. A long fragment of WTXand 10 exons and intron sequences of WT1 were amplified by polymerase chain reaction （PCR） from extracted genomic DNA and sequenced. A chi-square test compared the difference between the W-/-X mutation group and the no mutation group. The relationship between the mutations and clinical phenotype was analyzed. Results W7X mutations were found in 5/52 tumor tissues and in 2/70 peripheral blood samples （five cases in total, all point mutations）. Two patients had a WTX mutation in both samples. WT1 mutations were found in 2/52 tumor tissues and in 4/70 peripheral blood samples （five cases in total, all point mutations）. One patient had a WT1 mutation in both samples. Ten cases had WTX or WT1 mutation （19.2% of Wilms＇ tumors）. No overlapping WTX and WTI mutations were found. No significant differences in clinical parameters were found between patients with and without a W7X mutation. Conclusions WTX mutations occur early in Wilms＇ tumor development, but at a low proportion. There was no evidence that WTX is the main cause of Wilms＇ tumor. Clinical parameters of patients with WTX mutations are not related to the mutation, indicating a limited impact of WTX on tumor progression. WTX and WT1 mutations occur independently, suggesting a relationship between their gene products.
