Key Publication
A National Multicenter Evaluation of the Clinical Utility of Optical Genome Mapping for Assessment of Genomic Aberrations in Acute Myeloid Leukemia
Multicenter: Columbia University, Mayo Clinic, Penn State, PathGroup, Legacy Health, Augusta University, Fred Hutchinson and MD Anderson Cancer Centers
medRxiv, Preprint: November 10, 2022.
doi: https://doi.org/10.1101/2020.11.07.20227728
Key Points:
- Evaluated OGM performance in 100 AML samples previously evaluated with karyotyping and FISH
- OGM detected 100% of all clinically relevant SVs and CNVs previously detected by traditional methods
- OGM provided important incremental data in 24% of cases: additional clinically relevant SVs above and beyond traditional methods in 11% of samples and refinement of the genomic structure analysis in another 13%
- Researchers illustrated how OGM consolidated techniques recommended by clinical guidelines (WHO, ELN, NCCN) for detection of hallmark AML SVs
