Jia Ming, Hu Bo-Fei, Xu Xiao-Jun, Xu Wei-Qun, Zhang Jing-Ying, Tang Yong-Min
Department/Center of Hematology-Oncology, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310003, Zhejiang Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2025 Apr;33(2):319-324. doi: 10.19746/j.cnki.issn.1009-2137.2025.02.002.
To explore the clinical characteristics, therapeutic responses and prognostic features of fusion gene for childhood acute lymphoblastic leukemia (ALL).
A total of 837 pediatric patients with ALL who were initially diagnosed in our hospital from July 2010 to November 2017 were retrospectively analyzed, 48 children with positive fusion gene were detected by the real-time quantitative PCR techniques and their data were retrospectively collected for analysis.
Among 48 cases with positive fusion gene, there were 26 males and 22 females, with onset ages ranging from 9 months to 13 years old. There were 2 cases (4.2%) in the low-risk group, 32 cases (66.7%) in the intermediate-risk group, and 14 cases (29.1%) in the high-risk group at initial diagnosis. The white blood cell (WBC) counts of 25 cases (53.2%) at initial diagnosis were <50×10/L, 11 cases (23.4%) were (50-100)×10/L, and 11 cases (23.4%) ≥100×10/L. The main immunophenotype was common-B ALL (44 cases, 91.7%). Other leukemia fusion genes such as and were not observed in this cohort of patients. All patients received the treatment of NPCLC-ALL2008 protocol, and 5 cases (10.4%) occurred poor prednisone response. All the 48 cases achieved complete remission (CR) after the induction treatments. The last follow-up date was April 30, 2023. A total of 5 children relapsed, including 1 case with intermediate risk and 4 cases with high risk. The recurrence rate in the high-risk group was significantly higher than that in the intermediate- and low-risk groups (both < 0.05). Most relapsed children had elevated WBC counts at initial diagnosis. Among them, WBC counts ≥100×10/L was observed in 4 cases. The recurrence rate among children with WBC counts ≥100×10/L was significantly higher than that with WBC counts <100×10/L ( < 0.01). Four deaths occurred in this cohort, of which 3 died of leukemia recurrence. The 10-year event-free survival rate and 10-year overall survival rate of the 48 children with positive fusion gene were 87.5%±4.8% and 91.7%±4.0%, respectively.
In ALL children with positive fusion gene, those with elevated WBC counts and high risk stratification at initial diagnosis are more likely to experience recurrence. Recurrence is the main cause of death in this group. It is suggested that such kind of children receive more intensive chemotherapy or undergo hematopoietic stem cell transplantation as early as possible to further improve prognosis.
探讨儿童急性淋巴细胞白血病（ALL）融合基因的临床特征、治疗反应及预后特点。
回顾性分析2010年7月至2017年11月在我院初诊的837例ALL患儿，采用实时定量PCR技术检测出48例融合基因阳性患儿，并对其资料进行回顾性收集分析。
48例融合基因阳性患儿中，男26例，女22例，发病年龄9个月至13岁。初诊时低危组2例（4.2%），中危组32例（66.7%），高危组14例（29.1%）。初诊时25例（53.2%）白细胞（WBC）计数<50×10⁹/L，11例（23.4%）为（50 - 100）×10⁹/L，11例（23.4%）≥100×10⁹/L。主要免疫表型为普通B-ALL（44例，91.7%）。该队列患者未观察到其他白血病融合基因如 等。所有患者均接受NPCLC-ALL2008方案治疗，5例（10.4%）出现泼尼松反应不佳。48例患儿诱导治疗后均达完全缓解（CR）。末次随访日期为2023年4月30日。共5例患儿复发，其中中危组1例，高危组4例。高危组复发率显著高于中危组和低危组（均P<0.05）。多数复发患儿初诊时WBC计数升高。其中4例初诊时WBC计数≥100×10⁹/L。WBC计数≥100×10⁹/L患儿的复发率显著高于WBC计数<100×10⁹/L患儿（P<0.01）。该队列中有4例死亡，其中3例死于白血病复发。48例融合基因阳性患儿的10年无事件生存率和10年总生存率分别为87.5%±4.8%和91.7%±4.0%。
在融合基因阳性的ALL患儿中，初诊时WBC计数升高及高危分层者更易复发。复发是该组患儿死亡的主要原因。建议此类患儿尽早接受更强化疗或行造血干细胞移植以进一步改善预后。
