Optical genome mapping in myeloid neoplasms

We summarize the technical principles of optical genome mapping (OGM) and evaluate its current clinical applications across myeloid neoplasms, with emphasis on acute myeloid leukemia and myelodysplastic syndromes. We highlight evidence demonstrating high concordance with standard cytogenetic methods, while also showing incremental diagnostic yield through detection of cryptic abnormalities and/or refinement complex rearrangements. We further discuss clinically relevant cytogenomic abnormalities that may be underrecognized by conventional cytogenetics, including chromoanagenesis, KMT2A partial tandem duplication and cryptic rearrangements involving genes such as NUP98 and MECOM. We also address practical considerations for implementation of OGM in a clinical cytogenetic laboratory, including pre-analytical DNA quality requirements, assay sensitivity, bioinformatic interpretation and workflow integration. Current data support OGM as a complementary component of genomic workups rather than a replacement for all existing assays. As analytical standards mature and outcome-linked evidence expands, OGM has strong potential to improve genomic risk stratification, refine disease classification and advance precision diagnostics in myeloid neoplasms.