Optical genome mapping in myeloid neoplasms.

Area of Science:

• Genomics
• Molecular Diagnostics
• Hematology

Background:

• Myeloid neoplasms, including acute myeloid leukemia and myelodysplastic syndromes, require accurate genomic characterization for diagnosis and treatment.
• Conventional cytogenetic methods have limitations in detecting certain complex or cryptic genomic abnormalities.

Purpose of the Study:

• To review the technical principles of Optical Genome Mapping (OGM).
• To evaluate the clinical utility of OGM in myeloid neoplasms.
• To discuss the implementation of OGM in clinical laboratories.

Main Methods:

• Review of technical principles of OGM.
• Evaluation of clinical data on OGM in myeloid neoplasms.
• Discussion of practical laboratory implementation aspects.

Main Results:

• OGM demonstrates high concordance with standard cytogenetic techniques.
• OGM provides incremental diagnostic yield by identifying cryptic abnormalities and complex rearrangements.
• OGM can detect underrecognized abnormalities like chromoanagenesis, KMT2A duplications, and rearrangements involving NUP98 and MECOM.

Conclusions:

• OGM is a valuable complementary tool for genomic analysis in myeloid neoplasms, not a replacement for all existing assays.
• Further development of analytical standards and outcome-linked evidence will expand OGM's role.
• OGM has the potential to enhance risk stratification, disease classification, and precision diagnostics in myeloid neoplasms.