伴ETV6-RUNX1融合基因阳性的儿童急性淋巴细胞白血病患者造血干细胞移植后监测该融合基因的意义

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.