目的　分析伴inv（16）/CBFβ-MYH11阳性的儿童急性髓系白血病（AML）的临床特点、生物学特征及预后。 方法　回顾分析2008年12月至2017年9月初诊并治疗的30例inv（16）/CBFβ-MYH11阳性AML患儿的临床和生物学特征， 随访至2017年11月，观察患儿的生存状态和影响因素。结果　30例伴inv（16）/CBFβ-MYH11阳性的AML患儿中，首诊表 现为肝肿大19例、脾肿大18例、淋巴结肿大19例，初诊时外周血WBC≥50×109/L者19例。 5年无事件生存（EFS）率、总 生存（OS）率分别为（84.2±7.6）%、（ 89.8±5.6）%。COX多因素回归分析显示，性别、发病时年龄、WBC、乳酸脱氢酶 水平、是否有髓外白血病、是否伴c-kit基因突变、染色体是否单独为inv（16）、初诊时CBFβ-MYH11定量是否大于中位数 水平、第一疗程是否完全缓解，对EFS、OS的影响均无统计学意义（P>0.05）。 将初诊时CBFβ-MYH11基因定量水平作为 基线，诱导缓解结束后的CBFβ-MYH11基因下降≥2 log者与<2 log者比较， 5年EFS、OS的差异均无统计学意义（P>0.05）。 3例患儿在巩固治疗期间监测CBFβ-MYH11融合基因进行性上升，调整治疗强度后未出现复发，至今均全部存活。结论 　伴inv（16）/CBFβ-MYH11阳性AML患儿发病时肝、脾、淋巴结肿大多见，外周血WBC多明显升高，治疗疗效好，巩固治 疗阶段定期监测CBFβ-MYH11定量可指导治疗，具有重要作用。

Objective　To investigate clinical and biological characteristics and prognosis of pediatric inv(16)/CBFβMYH11-positive acute myeloid leukemia. Methods　From December 2008 to September 2017, 30 patients diagnosed as inv(16)/ CBFβ-MYH11-positive acute myeloid leukemia were enrolled in this study and their clinical and biological features were retrospectively analyzed. Following-up of 30 patients were ended in November 2017, and the survival status was calculated by K-M curve and prognostic factors were analyzed by COX model. Results　At preliminary diagnosis of the total 30 patients, 19 patients had hepatomegaly (63.3%), 18 cases had splenomegaly (60.0%), and 19 cases had lymphoadenopathy (63.3%). Patients at diagnosis with high leukocyte counts （≥50×109/L） accounted for 63.3%. In all patients, the 5-year anticipated EFS and OS were （84.2±7.6）% and（89.8±5.6）%, respectively. Cox multivariate regression analysis showed that gender, age at onset, leukocyte count, lactate dehydrogenase level, extramedullary leukemia, c-kit gene mutation, chromosome inv (16) alone, initial CBFβ-MYH11 quantification and the response to the first course of treatment did not statistically affect EFS and OS (P>0.05).  The level of CBFβ-MYH11 gene at diagnosis was used as the baseline to determine whether the level of gene after treatment had a more than 2 logarithmic (2-log) reduction. When patients with a more than 2-log reduction of CBFβ-MYH11 transcript levels (≥2-log) compared with other patients after a course of induction therapy, the differences of 5-year EFS and OS were not statistically significant (P>0.05). When periodically monitoring the CBFβ-MYH11 gene, three cases with progressively increasing CBFβ-MYH11 fusion gene during the consolidation therapy were identified, and no relapse was found after adjustment of treatment intensity. All of them survived so far. Conclusions　In patients with inv(16)/CBFβ-MYH11-positive AML, hepatosplenomegaly, lymphadenopathy and high initial leukocyte counts are most common features, and the therapeutic effect is good. It is important to regularly monitor CBFβ-MYH11 quantitation in the consolidation therapy phase.