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The extended potential of optical genome mapping (OGM) in pediatric AML compared to classical cytogenetics

Klinische Padiatrie 2022
Suttorp J, et al

J Suttorp, JL Luhmann, D Steinemann, D Reinhardt, N von Neuhoff, M Schneider.

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.

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