［摘要］ 目的:探讨RUNX1 异构体的表达与临床疗效、疾病预后的关系，以期为急性白血病的个体化治疗、预后判断及微小残留病（minimal residual disease，MRD）的监测提供有价值的实验依据。方法: 选择2012 年4 月至2013 年4 月于广东医学院（现为广东医科大学）附属医院血液内科住院的急性白血病初治患者88 例、复发患者10 例为研究对象。采用qPCR法检测急性白血病初治、复发患者以及对照组患者（非恶性白血病）RUNX1 异构体RUNX1a 和RUNX1b/c mRNA的表达水平，并追踪检测同一患者化疗前后RUNX1a 和RUNX1b/c mRNA表达水平的变化。结果: (1)AML初治组、复发组以及ALL初治组RUNX1a mRNA的表达水平较对照组升高(P<0.05)，AML初治组RUNX1a mRNA的表达水平较ALL初治组升高(P<0.05)。(2)AML及ALL患者初治时RUNX1a 和RUNX1b/ c mRNA 的表达水平较化疗后完全缓解（complete remission，CR）时升高(P<0.05)。(3)比较初诊时的RUNX1a 和RUNX1b/c mRNA表达水平，半年内死亡与存活患者、首疗程化疗后CR组与NCR组、初诊时高白细胞组与非高白细胞组均无显著差异(P>0.05)；AML-ETO 融合基因阳性患者RUNX1a 表达水平较阴性患者升高(P<0.05)。(4)急性白血病患者RUNX1a 和RUNX1b/c mRNA的表达水平随着化疗呈递减趋势，复发时又明显增高甚至超过初治状态。结论: RUNX1a 异构体参与了急性白血病的发病，并且与AML的复发相关；RUNX1a 和RUNX1b/c mRNA表达水平与临床疗效相关，与疾病预后无关，可作为疾病疗效判断的指标；动态监测RUNX1a 和RUNX1b/c 异构体的表达水平可以作为化疗后MRD监测的有效指标，用于评估疗效、早期识别复发风险。

[Abstract] Objective: To investigate the relationship between the expression of RUNX1 isoforms and the clinical curative effect and the prognosis of acute leukemia (AL), in order to provide valuable experimental data for the individualized treatment, MRD (minimal residual disease) monitoring and prognosis prediction of AL. Methods: AL patients with primary treatment (PT, n=88) and recrudescence (RC, n=10) that treated at the Department of Hematology of Affiliated Hospital of Guangdong Medical University from April,2012 to April, 2013 were included in this study. Real-time PCR was used to examine the mRNA expression of RUNX1 isoforms (RUNX1a and RUNX1b / c) in PT patients, RC patients and controls (non-malignant hematological disease patients). The changes in mRNA expression of RUNX1a and RUNX1b/c in patients before and after the chemotherapy were also observed. Results：(1)The expression levels of RUNX1a mRNA in AML and ALL PT group and AML RC group was significantly higher than those of control group (P<0.05); The expression level of RUNX1a mRNA in AML PT group was increased compared with ALL PT group (P<0.05). (2) The expression levels of RUNX1a and RUNX1b/c mRNA in AML and ALL patients at initial treatment were significantly higher than those after complete remission (CR) (P<0.05). (3) By comparing the expression levels of RUNX1a and RUNX1b/c mRNA at initial diagnosis,there was no significant difference between 6-month death group and survival group, CR group and NCR (non-complete remission)group after first cycle of chemotherapy, or the high leukocyte group and non-high leukocyte group (all P>0.05).The expression level of RUNX1a mRNA in AML-ETO positive group was higher than that of negative group (P<0.05). (4) The expression levels of RUNX1a and RUNX1b/c mRNA in patients with acute leukemia decreased with the increasing chemotherapy cycle, and significantly increased when had a relapse, which may even succeed the initial level.Conclusion: RUNX1a isoforms participate in the pathogenesis of acute leukemia, and isrelated to the relapse of AML. The expression levels of RUNX1a and RUNX1b/c mRNA are related to the clinical efficacy that can be used as an indicator of curative effect, but have no significant correlation with the prognosis of the disease.Dynamic monitor of theexpression levels of RUNX1a and RUNX1b/c isomers can be used as an effective indicator of MRD monitoring after chemotherapy,which can be used to evaluate the efficacy and identify the risk of recurrence at early stage.

广东省科技计划基金资助项目（No. 2014A020212300，2016A020215149）；湛江市财政资金科技专项竞争性分配项目（No.2016A06003）