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[Copy number variations in pediatric ETV6/RUNX1 positive acute lymphoblastic leukemia]
Yao Zou1, Li Zhang, Xiaoming Liu
1Department of Pediatrics, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, China.
Insights
Copy number variations (CNVs) in pediatric ETV6/RUNX1 gene positive acute lymphoblastic leukemia (ALL) impact patient prognosis. Specific CNVs in EBF1, PAX5, and ETV6 genes significantly correlate with recurrence-free survival in these young patients.
Area of Science:
- Hematology
- Pediatric Oncology
- Genetics
Background:
- Pediatric acute lymphoblastic leukemia (ALL) is a significant childhood cancer.
- The ETV6/RUNX1 fusion gene is a common genetic alteration in pediatric ALL.
- Understanding genetic variations like copy number variations (CNVs) is crucial for prognosis.
Purpose of the Study:
- To investigate copy number variations (CNVs) in pediatric patients with ETV6/RUNX1 positive ALL.
- To determine the correlation between these CNVs and clinical features.
- To assess the prognostic relevance of CNVs in ETV6/RUNX1 positive ALL.
Main Methods:
- Analysis of 141 pediatric patients (<14 years) diagnosed with ETV6/RUNX1 positive ALL.
- Copy number variations (CNVs) were analyzed using multiplex ligation-dependent probe amplification (MLPA).
- Survival rates (Overall Survival - OS, Event-Free Survival - EFS, Recurrence-Free Survival - RFS) were estimated using Kaplan-Meier and log-rank tests.
Main Results:
- CNVs were detected in 76.8% of the 95 tested patients.
- Frequent CNVs involved ETV6 (54.8%), PAX5 (21.1%), CDKN2A/2B (18.9%), EBF1 (15.8%), and BTG1 (10.5%).
- Deletions and amplifications in EBF1, PAX5, and ETV6 showed statistically significant correlations with 5-year recurrence-free survival (RFS).
Conclusions:
- Copy number variations (CNVs) are prevalent in pediatric ETV6/RUNX1 positive ALL.
- Specific CNVs, particularly in ETV6, PAX5, and EBF1, have significant prognostic relevance.
- CNV analysis can aid in predicting outcomes for children with ETV6/RUNX1 positive ALL.
Objective:
To evaluate the copy number variations (CNVs) in pediatric ETV6/RUNX1 gene positive acute lymphoblastic leukemia(ALL) and its correlation with clinical features and prognosis.
Method:
Totally 141 children (<14 years of age) with newly diagnosed ETV6/RUNX1 positive ALL in Institute of Hematology and Blood Diseases Hospital, were included from January 2006 to November 2012. The CNVs were analyzed by multiplex ligation-dependent probe amplification (MLPA). The survival rate between the patients with CNVs were explored. Overall survival (OS) and event-free survival (EFS) were estimated by the Kaplan-Meier method and compared with the log-rank test.
Result:
Among the 141 cases, 55.3% (n=78) were boys and 44.7% (n=63) were girls and the median age was 4 (1-13) years. The estimated 5-year DFS rate for the patients was (84±4)%. The estimated 5-year OS rate for the patients was (85±4)%. Ninety-five patients were tested MLPA. CNVs were detected in 73 cases (76.8%). CNVs of genes EBF1(15.8%), CDKN2A/2B(18.9%), PAX5(21.1%), ETV6(54.8%), BTG1(10.5%) were detected in more than 10% of the patients. Among the 95 patients, EBF1 deletions were found in 9 patients and EBF1 amplifications were found in 6 patients; 5-year recurrence-free survival (RFS) was statistically significant among 3 groups (χ(2)=9.809, P=0.007) . PAX5 deletions were found in 13 patients and PAX5 amplifications were found in 7 patients; the difference in 5-year RFS was statistically significant between 3 groups(χ(2)=7.622, P=0.022). ETV6 deletions were found in 39 patients and ETV6 amplifications were found in 13 patients; the difference in 5-year RFS was statistically significant among the 3 groups (χ(2)=11.045, P=0.004).
Conclusion:
The CNVs had prognostic relevance in ETV6/RUNX1 positive ALL.
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