目的 探讨和验证ETV6/RUNX1融合基因在中国汉族B系急性淋巴细胞白血病（B-ALL）患儿中的阳性率及其对疾病预后的影响。方法 回顾性分析2007 年1 月1 日至2014 年12 月31 日确诊并序贯治疗的B-ALL患儿经FISH技术检测的ETV6/RUNX1融合基因结果及其临床资料。结果 共有723例B-ALL患儿，其中ETV6/RUNX1阳性B-ALL患儿151例，阳性率20.89%；在723 例B-ALL患儿中91 例患儿复发，其中ETV6/RUNX1阳性患儿复发10 例，占复发患儿的10.99%。同时，在ETV6/RUNX1阳性患儿中，除1例在诊断后65 d复发，其余9例的复发时间均超过300 d，复发时间中位数为1 155 d（P25 ~ P75= 395.3 ~ 1 301.5）；ETV6/RUNX1阴性患儿复发时间为484 d（P25 ~ P75= 259.0 ~ 1 017.5），两组复发时间差异无统计学意义（P = 0.158）。对复发时间的分布区域分析发现，ETV6/RUNX1阳性患儿的复发期主要集中于临床化疗结束后，而阴性患儿的复发期主要集中于维持治疗期，两者的复发时间段分布差异有统计学意义（P < 0.001）。结论 ETV6/RUNX1在中国汉族儿童B-ALL中也是预后良好的标志之一。

Objective To investigate the incidence of the ETV6/RUNX1 fusion gene among Chinese pediatric patients with B-ALL and its effect on the prognosis. Methods A total of 723 patients with B-ALL from January 1, 2007 to December 31, 2014 were enrolled in this study. All patients were detected ETV6/RUNX1 fusion gene by FISH. Clinical data and ETV6/RUNX1 were combined to analyze the clinical prognosis. Results Among the 723 patients, 151 were with ETV6/RUNX1 positive B-ALL, accounting for approximately 20.89% (151/723) of B-precursor cases; 91 patients were with recurrence, including 10 patients with ETV6/RUNX1 positive B-ALL, and the recurrence rate of ETV6/RUNX1 positive B-ALL was 10.99% (10/91). Among 10 recurrent patients with ETV6/RUNX1 positive B-ALL, 9 patients relapsed more than 300 days later after diagnosis, while the recurrence times among the patients with ETV6/RUNX1 negative was very different. Although the recurrence times between the two groups showed no significant difference (P = 0.09), the recurrence times of ETV6/RUNX1 positive patients were mainly found at the end of clinical chemotherapy, while the recurrence time of ETV6/RUNX1 negative patients were mainly at maintaining chemotherapy period, there was a significant difference between the distribution of recurrence time (P < 0.0001). Conclusions ETV6/RUNX1 fusion gene is a favorable predictor of outcome in Chinese pediatric B-ALL as well.