摘要目的 观察伴有ETV6-RUNX1融合基因阳性的儿童急性淋巴细胞白血病(ALL)患者异基因造血干细胞移植(allo-HSCT)后融合基因表达水平的变化特征,初步探讨其临床意义.方法 回顾性分析2009年5月至2016年3月行allo-HSCT的13例ETV6-RUNX1融合基因阳性儿童ALL患者的临床资料,采用实时荧光定量PCR法监测融合基因水平,并结合临床转归进行相关分析.结果 13例患者中男7例,女6例,中位年龄11(5～17)岁.移植前6例阳性,移植后7例阳性(5例为移植前阳性者,2例为新增者);其移植后基因中位转阳时间为137(28～270)d,第1次基因阳性中位表达水平为0.034％(0.004％～0.061％),从基因第1次阳性至血液学复发间隔的中位时间为196(28～666)d,其中4例血液学复发(均死亡),中位复发时间为294(104～803)d.结论 移植前伴有ETV6-RUNX1融合基因阳性的儿童ALL患者移植后再次阳性的概率较高;移植后融合基因阳性者预后差.

abstractsObjective To investigate the clinical significance of monitoring ETV6-RUNX1 fusion gene in children with acute lymphoblastic leukemia (ALL) after allogeneic stem cell transplantation (alloHSCT).Methods Clinical data of 13 children received allo-HSCT in Peking University Institute of Hematology from May 2009 to March 2016 were retrospectively collected.The ETV6-RUNX1 gene was examined by real-time quantitative polymerase chain reaction (RQ-PCR).The correlation between its expression level and the disease status was analyzed.Results Of 13 enrolled ALL cases,the ETV6RUNX 1 expression of 7 patients converted to positive after transplant at a median time of 137 days (range,28-270 days).The expression level of the first positive sample was 0.034％ (range,0.004％-0.061％).The duration from ETV6-RUNX1 positive to hematological relapse was 196 days (range,28-666 days).Four patients experienced relapse at a median time of 294 days (range,104-803 days) after allo-HSCT.The ETV6-RUNX1 expression converted to positive prior to MRD.Patients with positive ETV6-RUNX1 gene expression pre-transplantation would be more likely to relapse.Conclusion Monitoring ETV6-RUNX1 by RQ-PCR could be used to evaluate MRD status after allo-HSCT.Patients with positive ETV6-RUNX1 after transplant had a poor prognosis.