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The extended potential of optical genome mapping (OGM) in pediatric AML compared to classical cytogenetics
Pediatric AML is characterized by numerous genetic aberrations (GA) impacting its classification for risk of treatment failure. GA are described by classical procedures (karyotyping, FISH, RNA-fusion transcripts) which harbor limitations. OGM is an emerging chip-based DNA technique with high resolution (~500 bp, for details see: https://bionanogenomics.com/products/saphyr/).
In 24 pediatric AML patients OGM results were compared to classical procedures. Discrepancies were detected in 17/24 cases including 32 previously unknown GA called by OGM only. One newly detected deletion and 2 translocations were validated by primer walking, breakpoint-spanning PCR, and DNA-sequencing. Additionally, in 2 cases OGM identified a new minimal residual disease (MRD) marker. Comparing impact on risk stratification, 19/20 de-novo AML cases had concordant results while OGM unraveled another high-risk aberration.
In conclusion, OGM expands the methodological spectrum to optimize the diagnosis of pediatric AML by identification of new GA. Results will contribute to a better understanding of leukemogenesis in pediatric AML. In addition, GA identified by OGM may provide markers for MRD monitoring.
Article published online:
17 May 2022
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