Objective: To explore the clinical characteristics, therapeutic responses and prognostic features of E2A-PBX1 fusion gene for childhood acute lymphoblastic leukemia (ALL).
Methods: 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 E2A-PBX1 fusion gene were detected by the real-time quantitative PCR techniques and their data were retrospectively collected for analysis.
Results: Among 48 cases with positive E2A-PBX1 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 <50×109/L, 11 cases (23.4%) were (50-100)×109/L, and 11 cases (23.4%) ≥100×109/L. The main immunophenotype was common-B ALL (44 cases, 91.7%). Other leukemia fusion genes such as BCR-ABL1, MLL-AF4, and TEL-AML1 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 P < 0.05). Most relapsed children had elevated WBC counts at initial diagnosis. Among them, WBC counts ≥100×109/L was observed in 4 cases. The recurrence rate among children with WBC counts ≥100×109/L was significantly higher than that with WBC counts <100×109/L (P < 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 E2A-PBX1 fusion gene were 87.5%±4.8% and 91.7%±4.0%, respectively.
Conclusion: In ALL children with positive E2A-PBX1 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.
题目: E2A-PBX1 融合基因阳性儿童急性淋巴细胞白血病临床特点及预后分析.
目的: 探讨儿童 E2A-PBX1 融合基因阳性急性淋巴细胞白血病（ALL）的临床特点、治疗反应及预后特征。.
方法: 回顾性分析2010年7月至2017年11月于本院初诊的ALL患儿837例，实时荧光定量PCR技术检测出 E2A-PBX1 阳性患儿48例，收集其临床资料进行分析。.
结果: 48例 E2A-PBX1 融合基因阳性患儿中男26例，女22例，发病年龄9个月-13岁。初诊低危、中危及高危分别为2例（4.2%）、32例（66.7%）和14例（29.1%）。初诊外周血白细胞数<50×109/L者25例（53.2%），(50-100)×109/L者11例（23.4%），≥100×109/L者11例（23.4%）。免疫表型主要是以common-B ALL为主（44例，占91.7%）。48例 E2A-PBX1 阳性患儿未检测到 BCR-ABL1、MLL-AF4、TEL-AML1等其他白血病融合基因。所有患儿均接受中国儿童急性淋巴细胞白血病2008方案治疗，其中，泼尼松反应不良者5例（10.4%）。48例患儿在诱导治疗结束后均获得完全缓解。至随访截止时间（2023年4月30日），共5例患儿出现复发，其中中危1例、高危4例，高危组患儿的复发率明显高于中、低危组（均P < 0.05）；绝大多数复发患儿初诊白细胞数较高，其中4例≥100×109/L，初诊白细胞数≥100×109/L组患儿的复发率明显高于<100×109/L组（P < 0.01）。本组共有4例患儿死亡，其中因白血病复发导致死亡的患儿有3例。48例 E2A-PBX1 融合基因阳性患儿10年无事件生存率及10年总生存率分别为87.5%±4.8%、91.7%±4.0%。.
结论: 在 E2A-PBX1 融合基因阳性ALL患儿中，初诊白细胞计数高及危险度分层较高的患儿更容易出现复发，复发是患儿的主要死亡原因，建议此类患儿接受更高强度的化疗或尽早进行造血干细胞移植以进一步改善其预后。.
Keywords: E2A-PBX1 fusion gene; acute lymphoblastic leukemia; relapse; prognosis.