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目的:研究PRPS1基因在儿童急性白血病(AL)中的表达及其与该病临床特征的相关性。方法:采用实时荧光定量PCR和Western blot的方法分别检测176例儿童AL(初诊126例,完全缓解50例)中PRPS1 mRNA和蛋白的表达水平,分析其表达水平与临床特征的相关性。以21例非恶性血液病患儿骨髓作为对照。结果:①在BALL组中,PRPS1在初诊组表达水平显著高于对照组,同时高于完全缓解组(P均<0.0001);在T-ALL及AML组中,仅在初诊组与完全缓解组中有差异(P均<0.0001);②在B-ALL样本中,PRPS1表达水平随危险度升高而增加(P<0.01);在T-ALL中各危险度分层组间则无明显差异(P>0.05);在AML样本中,仅低危组与高危组差异具有统计学意义(P<0.05);③PRPS1高表达与B-ALL患儿的高WBC计数及MRD阳性相关(P=0.020,P=0.026);4PRPS1与之前证实的复发相关基因NT5C2表达水平呈正相关(P<0.05)。结论:PRPS1是儿童B-ALL预后不良相关危险因素,有望成为判断预后,指导个性化化疗的指标。
Objective: To study the expression of PRPS1 gene in children with acute leukemia (AL) and its correlation with clinical features. Methods: The mRNA and protein expression of PRPS1 in 176 children with AL (initial diagnosis of 126 cases and complete remission of 50 cases) were detected by real-time fluorescence quantitative PCR and Western blot respectively. The correlation between PRPS1 mRNA expression and clinical features was analyzed. 21 cases of non-hematological malignancy in children with bone marrow as a control. Results: ① In the BALL group, the expression level of PRPS1 in the newly diagnosed group was significantly higher than that in the control group and higher than that in the complete remission group (all P <0.0001). In the T-ALL and AML groups, (P <0.0001). ②The expression level of PRPS1 increased with the increase of risk in B-ALL samples (P <0.01). There was no significant difference among the risk stratification groups in T-ALL (P> 0.05). In AML samples, the difference between low-risk group and high-risk group was statistically significant (P <0.05). (3) The high expression of PRPS1 was associated with high WBC count and MRD positive in children with B-ALL , P = 0.026). There was a positive correlation between 4PRPS1 and NT5C2 expression level (P <0.05). Conclusion: PRPS1 is a risk factor of poor prognosis in children with B-ALL, which is expected to be an index to judge prognosis and guide personalized chemotherapy.