[Clinical Characteristics and Prognostic Analysis of Childhood Acute Lymphoblastic Leukemia with Positive E2A-PBX1
Ming Jia1, Bo-Fei Hu1, Xiao-Jun Xu1
1Department/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.
Insights
Children with high-risk acute lymphoblastic leukemia (ALL) and elevated white blood cell (WBC) counts carrying the E2A-PBX1 fusion gene have a higher recurrence risk. Early intensive chemotherapy or stem cell transplant can improve outcomes for these pediatric ALL patients.
Area of Science:
- Pediatric Hematology Oncology
- Molecular Diagnostics in Leukemia
- Cancer Genetics
Context:
- Acute lymphoblastic leukemia (ALL) is the most common childhood cancer.
- The E2A-PBX1 fusion gene is a specific genetic alteration found in a subset of pediatric ALL cases.
- Understanding the clinical implications of E2A-PBX1 is crucial for risk stratification and treatment planning.
Purpose:
- To investigate the clinical characteristics, treatment responses, and prognostic factors associated with the E2A-PBX1 fusion gene in childhood ALL.
- To identify patient subgroups with a higher risk of relapse.
- To inform therapeutic strategies for improving outcomes in pediatric ALL patients with E2A-PBX1.
Summary:
- This study analyzed 48 pediatric ALL patients with the E2A-PBX1 fusion gene, finding that high-risk stratification and elevated white blood cell (WBC) counts at diagnosis were significantly associated with increased relapse rates.
- While all patients achieved initial complete remission, recurrence was the primary cause of mortality, particularly in high-risk cases.
- The 10-year event-free survival and overall survival rates were 87.5% and 91.7%, respectively.
Impact:
- Identifies key prognostic indicators (WBC count, risk group) for E2A-PBX1 positive pediatric ALL.
- Highlights recurrence as the main cause of death, emphasizing the need for intensified treatment strategies.
- Suggests early intervention with intensive chemotherapy or hematopoietic stem cell transplantation for high-risk patients to improve survival rates.
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.
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