【摘要】 目的 研究在无特异性融合基因表达时，黑色素瘤特异性抗原(preferentially expressed antigen of melanoma,PRAME)基因阳性在儿童急性B淋巴细胞白血病(acute B lymphoblastic leukemia,B-ALL)中的临床及预后意义。方法 纳入167例新诊断的B-ALL患儿，其中70例PRAME基因阳性，97例PRAME基因阴性，所有患儿均不表达MLL-r、BCR/ABL、E2A/PBX1、ETV6/RUNX1，分析2组患儿的临床特点、预后及预后的相关因素。结果 PRAME阳性组肝肋下>6 cm患儿比例高于PRAME阴性组(P<0.05)。诱导化疗后PRAME基因拷贝数较治疗前下降(P<0.05)，诱导化疗后微小残留病(minimal residual disease,MRD)阳性组中，PRAME基因拷贝数与MRD水平无相关性(P>0.05)；在诱导化疗后MRD阴性组中，二者亦无相关性(P>0.05)。PRAME阳性组4年无事件生存率高于PRAME阴性组(87.5%±4.6%vs 73.5%±4.6%,P<0.05),2组4年总生存率差异无统计学意义(88.0%±4.4%vs 85.3%±3.8%,P>0.05)。Cox比例风险回归模型分析显示PRAME基因表达是影响B-ALL患儿4年无事件生存率的保护因素(P<0.05)。结论 尽管PRAME基因不能作为MRD监测，但在B-ALL中PRAME基因过表达提示预后良好。更多还原

【Abstract】 Objective To study the clinical and prognostic significance of the preferentially expressed antigen of melanoma(PRAME) gene in the absence of specific fusion gene expression in children with B-lineage acute lymphoblastic leukemia(B-ALL).Methods A total of 167 children newly diagnosed with B-ALL were enrolled,among whom 70 were positive for the PRAME gene and 97 were negative.None of the children were positive for MLL-r,BCR/ABL,E2A/PBX1,or ETV6/RUNX1.The PRAME positive and negative groups were analyzed in terms of clinical features,prognosis,and related prognostic factors.Results Compared with the PRAME negative group,the PRAME positive group had a significantly higher proportion of children with the liver extending >6 cm below the costal margin(P<0.05).There was a significant reduction in the PRAME copy number after induction chemotherapy(P<0.05).In the minimal residual disease(MRD) positive group after induction chemotherapy,the PRAME copy number was not correlated with the MRD level(P>0.05).In the MRD negative group,there was also no correlation between them(P>0.05).The PRAME positive group had a significantly higher 4-year event-free survival rate than the PRAME negative group(87.5%±4.6% vs 73.5%±4.6%,P<0.05),while there was no significant difference between the two groups in the 4-year overall survival rate(88.0%±4.4% vs85.3%±3.8%,P>0.05).The Cox proportional-hazards regression model analysis showed that positive PRAME expression was a protective factor for event-free survival rate in children with B-ALL(P<0.05).Conclusions Although the PRAME gene cannot be monitored as MRD,overexpression of PRAME suggests a good prognosis in B-ALL.更多还原