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Genetic Mutations in B-Acute Lymphoblastic Leukemia Among African American and European American Children
Amit Reddy1, Ingrid Espinoza2, Dana Cole3
1Department of Pathology, University of Mississippi Medical Center, Jackson, MS.
Insights
African American children with B-acute lymphoblastic leukemia (B-ALL) have lower survival rates. Whole exome sequencing revealed race-specific genetic variations in B-ALL, offering insights into disparate outcomes.
Area of Science:
- Genetics
- Oncology
- Pediatrics
Background:
- African American (AA) children exhibit lower survival rates for B-acute lymphoblastic leukemia (B-ALL) compared to European American (EA) children.
- Disparities in B-ALL outcomes between AA and EA children suggest underlying biological differences.
Purpose of the Study:
- To investigate race-specific genetic variations contributing to disparate B-ALL outcomes in children.
- To identify germline mutations associated with B-ALL in AA and EA pediatric populations.
Main Methods:
- Whole exome sequencing (WES) was performed on DNA from bone marrow aspirates of 5 AA and 15 EA pediatric B-ALL patients.
- Analysis focused on identifying race-specific and B-ALL-specific germline mutations.
Main Results:
- While most genetic variants were shared, unique aberrations were identified in both AA (n=58) and EA (n=52) children.
- In AA children, unique aberrations clustered in telomerase and cancer signaling pathways.
- In EA children, unique aberrations were associated with stem cell pluripotency and hereditary cancer pathways.
Conclusions:
- Aberrant genetic variations in signaling networks may underlie race-specific leukemogenesis in B-ALL.
- WES can aid in developing individualized gene signatures for B-ALL patients.
- Findings may inform disease management and reduce outcome disparities in AA children with B-ALL.
Background:
The survival of patients with B-acute lymphoblastic leukemia (B-ALL) is significantly lower in African American (AA) children compared with European American children (EA). Here, we present a whole exome sequencing (WES) study showing race-specific genetic variations that may play a role on the disparate outcomes among AA and EA children with B-ALL.
Patients And Methods:
Five AA and 15 EA patients ranging in age from 1 to 18 years were enrolled. The median blast percentage was 94.8% (range, 64.5%-99.9%). Frozen bone marrow aspirate was used to extract DNA, and WES was performed, focusing on race and B-ALL-specific germline mutations.
Results:
Most genetic variants (n = 339) were shared between AA and EA children. Some genetic aberrations were only uniquely identified in AA (n = 58) and others in EA (n = 52) In AA, the genetic aberrations clustered in canonical pathways related to telomerase signaling and cancer signaling. In EA, the unique genetic aberration clustered in pathways related to stem cell pluripotency and hereditary cancer.
Conclusions:
Our study revealed aberrant genetic aberrations in signaling networks that may contribute to race-specific aspects of leukemogenesis. Our results suggest the value of WES as a tool for development of individual gene signatures and gene scores for AA and EA children afflicted by B-ALL. These findings may ultimately impact disease management and contribute to the elimination of disparate outcomes in AA children with B-ALL.
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