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Interphase Fluorescence in situ Hybridization of Bone Marrow Smears of Multiple Myeloma
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Published on: April 15, 2022

Optical genome mapping in myeloid neoplasms.

Guilin Tang1, Qing Wei1, Melanie Klausner2

  • 1Department of Hematopathology, The University of Texas, MD Anderson Cancer Center, Houston, TX, USA.

Human Pathology
|May 30, 2026
PubMed
Summary

Optical Genome Mapping (OGM) offers high concordance with standard methods for myeloid neoplasms. It enhances diagnosis by detecting complex and cryptic abnormalities, improving risk stratification and precision medicine.

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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.