Objective: To investigate the clinical significance of monitoring ETV6-RUNX1 fusion gene in children with acute lymphoblastic leukemia (ALL) after allogeneic stem cell transplantation (allo-HSCT) . 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 ETV6-RUNX1 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.
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。.
Keywords: Fusion gene, ETV6-RUNX1; Hematopoietic stem cell transplantation; Leukemia, lymphocytic, acute; Minimal residual disease.