Objective: To investigate the clinical features and prognosis of ETV6-RUNX1-positive childhood B-precursor acute lymphocyte leukemia (B-ALL) . Methods: The clinical data of 927 newly diagnosed children with B-ALL admitted to the Fujian Medical University Union Hospital from April 2011 to May 2020 were retrospectively analyzed. According to the results of ETV6-RUNX1 gene, the patients were divided into ETV6-RUNX1(+) and ETV6-RUNX1(-) groups. The clinical features and prognosis between the two groups were compared. Among the 182 children with ETV6-RUNX1(+), 144 patients received the Chinese Childhood Leukemia Collaborative Group (CCLG) -ALL 2008 protocol (CCLG-ALL 2008 group) and 38 received the China Childhood Cancer Collaborative Group (CCCG) -ALL2015 protocol (CCCG-ALL 2015 group) . The efficacy, serious adverse effects (SAE) incidence, and treatment-related mortality (TRM) of the two groups were also compared. Results: Of the 927 B-ALL patients, 189 (20.4% ) were ETV6-RUNX1(+). The proportion of patients with risk factors (age ≥10 years or <1 year, white blood cell count ≥50×10(9)/L) in the ETV6-RUNX1(+) group was significantly lower than that in the ETV6-RUNX1(-) group (P=0.000, 0.001, respectively) , while the proportion of patients with good early response (good response to prednisone, d15 or d19 MRD <1% , and d33 or d46 MRD<0.01% in induction chemotherapy) in the ETV6-RUNX1(+) group was significantly higher than that in the ETV6-RUNX1(-) group (P=0.028, 0.004, respectively) . The 5-year EFS and OS of the ETV6-RUNX1(+) group were significantly higher than those of the ETV6-RUNX1(-) group (EFS: 89.8% vs 83.2% , P=0.003; OS: 90.2% vs 86.3% , P=0.030) . The incidence of infection-related SAE and TRM was significantly higher than that of CCCG-ALL 2015 group. A statistical difference was observed between the incidence of infection-related SAE of the two groups (27.1% vs 5.3% , P=0.004) , but no difference in TRM (4.9% vs 0, P=0.348) . Conclusion: ETV6-RUNX1(+)B-ALL children have fewer risk factors at diagnosis, better early response, lower recurrence rate, and good prognosis than that of ETV6-RUNX1(-)B-ALL children. Reducing the intensity of chemotherapy appropriately can lower the infection-related SAE and TRM and improve the long-term survival in this subtype.
目的： 探讨ETV6-RUNX1融合基因阳性儿童急性前体B淋巴细胞白血病（B-ALL）的临床特征及预后。 方法： 回顾性分析2011年4月至2020年5月福建医科大学附属协和医院小儿血液科收治的927例初诊B-ALL患儿的临床资料。根据ETV6-RUNX1检测结果，分为ETV6-RUNX1(+)组及ETV6-RUNX1(-)组，对比两组的临床特征及预后；182例ETV6-RUNX1(+)患儿规范治疗，其中144例接受中国儿童白血病协作组（CCLG）-ALL 2008方案治疗（CCLG-ALL 2008方案组），38例接受中国儿童癌症协作组（CCCG）-ALL 2015方案治疗（CCCG-ALL 2015方案组），对比两种方案的疗效、严重不良反应（SAE）发生率及治疗相关死亡（TRM）率。 结果： 927例B-ALL患儿中，189例（20.4%）ETV6-RUNX1阳性。ETV6-RUNX1(+)组初诊时有危险因素（年龄≥10岁或<1岁，WBC≥50×10(9)/L）的患者比例均显著低于ETV6-RUNX1(-)组（P值分别为0.000和0.001），而泼尼松诱导试验反应良好、诱导化疗第15天或第19天微小残留病（MRD）<1%，以及诱导化疗第33天或第46天MRD<0.01%的患者比例显著高于ETV6-RUNX1(-)组（P值分别为0.001、0.028和0.004）。ETV6-RUNX1(+)组的5年无事件生存（EFS）及总生存（OS）率均显著高于ETV6-RUNX1(-)组（EFS：89.8%对83.2%，P＝0.003；OS：90.2%对86.3%，P＝0.030）。CCLG-ALL 2008组感染相关SAE发生率显著高于CCCG-ALL 2015组（27.1%对5.3%，P＝0.004），TRM发生率也高于CCCG-ALL 2015组，但差异无统计学意义（4.9%对0，P＝0.348）。 结论： ETV6-RUNX1(+)儿童B-ALL初诊危险因素较少，早期治疗反应较好，复发率低，总体预后良好；适当减低化疗强度，可降低感染相关SAE及TRM发生率，并进一步提高该亚型ALL患儿的OS率。.
Keywords: Child; ETV6-RUNX1 fusion gene; Leukemia, lymphoblastic, acute; Prognosis.