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Imaging Flow Cytometric Identification of Chromosomal Defects in Paediatric Acute Lymphoblastic Leukaemia
Ana P A Simpson1, Carly E George2,3, Henry Y L Hui1
1School of Biomedical Sciences, The University of Western Australia, Crawley, WA 6009, Australia.
Cells
|January 24, 2025
Summary
A new imaging flow cytometry method, immuno-flowFISH, successfully identified genetic changes like aneuploidy and ETV6::RUNX1 translocations in childhood acute lymphoblastic leukemia (ALL). This sensitive technique aids in diagnosing ALL and monitoring treatment response.
Area of Science:
- Hematology
- Genetics
- Flow Cytometry
Background:
- Acute lymphoblastic leukemia (ALL) is a common childhood cancer with genetic aberrations influencing prognosis.
- Common aberrations include hyperdiploidy and the ETV6::RUNX1 translocation, crucial for risk stratification.
Purpose of the Study:
- To evaluate a novel imaging flow cytometry method, "immuno-flowFISH," for detecting chromosomal aneuploidies and translocations in pediatric B-lineage ALL.
- To assess the method's sensitivity and specificity in identifying key genetic alterations like trisomy 4/21 and ETV6::RUNX1.
Main Methods:
- The immuno-flowFISH platform was applied to 39 pediatric ALL cases.
- Leukemic cells were identified by immunophenotype (CD34, CD10, CD19).
- Fluorescence in situ hybridization (FISH) probes detected copy numbers of chromosomes 4, 21, and ETV6/RUNX1 regions in over 1000 cells per sample.
Main Results:
- The method successfully identified trisomy 4/21, tetrasomy 21, and ETV6::RUNX1 translocations, including gains/losses of ETV6 and RUNX1.
- Genetic alterations were detectable even in cell populations as low as 1%, including mature B-cells.
- Variability in clonal makeup and presence of sub-clones were observed.
Conclusions:
- The semi-automated, high-throughput immuno-flowFISH method is sensitive and specific for detecting ploidy alterations and ETV6::RUNX1 in pediatric ALL.
- This technique shows potential for improved diagnosis, disease monitoring, and distinguishing residual leukemia from regenerating cells post-chemotherapy.
