Integration of Optical Genome Mapping in the Cytogenomic and Molecular Work-Up of Hematological Malignancies: Expert Recommendations From the International Consortium for Optical Genome Mapping

Rashmi Kanagal-Shamanna¹, Anna Puiggros^{2

3}, Isabel Granada⁴, Gordana Raca⁵, Katrina Rack⁶, Mar Mallo⁷, Barbara Dewaele⁶, Adam C Smith^{8

9}, Yassmine Akkari^{10

11}, Brynn Levy¹², Robert P Hasserjian¹³, Adela Cisneros⁴, Marta Salido^{2

3}, Guillermo Garcia-Manero¹, Hui Yang¹, M Anwar Iqbal¹⁴, Ravindra Kolhe¹⁵, Francesc Solé⁷, Blanca Espinet^{2

3}

Affiliations

¹ Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
² Molecular Cytogenetics Laboratory, Pathology Department, Hospital del Mar, Barcelona, Spain.
³ Translational Research on Hematological Neoplasms Group, Cancer Research Program, Hospital del Mar Research Institute, Barcelona, Spain.
⁴ Hematology Department, Hospital Germans Trias i Pujol, Institut Català D'oncologia, Josep Carreras Leukaemia Research Institute, Barcelona, Spain.
⁵ Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA.
⁶ Laboratory for the Cytogenetic and Molecular Diagnosis of Haematological Malignancies, Centre of Human Genetics, University Hospitals Leuven, Leuven, Belgium.
⁷ MDS Research Group, Microarrays Unit, Institut de Recerca Contra la Leucèmia Josep Carreras (IJC), ICO-Hospital Germans Trias i Pujol, Universitat Autònoma de Barcelona, Badalona, Spain.
⁸ Department of Laboratory Medicine and Pathobiology, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
⁹ Advanced Diagnostics Platform, Department of Laboratory Medicine and Molecular Diagnostics, Precision Diagnostics and Therapeutics Program, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada.
¹⁰ The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
¹¹ Department of Pathology, The Ohio State University, Columbus, Ohio, USA.
¹² Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA.
¹³ Department of Pathology, Massachusetts General Hospital/Harvard Medical School, Boston, Massachusetts, USA.
¹⁴ DNA Microarray CGH Laboratory, URMC Central Laboratory, University of Rochester Medical Center, West Henrietta, New York, USA.
¹⁵ Department of Pathology, Medical College of Georgia, Augusta University, Augusta, Georgia, USA.

PMID: 40304265
DOI: 10.1002/ajh.27688

Review

Integration of Optical Genome Mapping in the Cytogenomic and Molecular Work-Up of Hematological Malignancies: Expert Recommendations From the International Consortium for Optical Genome Mapping

Rashmi Kanagal-Shamanna et al. Am J Hematol. 2025 Jun.

. 2025 Jun;100(6):1029-1048.

doi: 10.1002/ajh.27688. Epub 2025 Apr 30.

Authors

Affiliations

¹ Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
² Molecular Cytogenetics Laboratory, Pathology Department, Hospital del Mar, Barcelona, Spain.
³ Translational Research on Hematological Neoplasms Group, Cancer Research Program, Hospital del Mar Research Institute, Barcelona, Spain.
⁴ Hematology Department, Hospital Germans Trias i Pujol, Institut Català D'oncologia, Josep Carreras Leukaemia Research Institute, Barcelona, Spain.
⁵ Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA.
⁶ Laboratory for the Cytogenetic and Molecular Diagnosis of Haematological Malignancies, Centre of Human Genetics, University Hospitals Leuven, Leuven, Belgium.
⁷ MDS Research Group, Microarrays Unit, Institut de Recerca Contra la Leucèmia Josep Carreras (IJC), ICO-Hospital Germans Trias i Pujol, Universitat Autònoma de Barcelona, Badalona, Spain.
⁸ Department of Laboratory Medicine and Pathobiology, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
⁹ Advanced Diagnostics Platform, Department of Laboratory Medicine and Molecular Diagnostics, Precision Diagnostics and Therapeutics Program, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada.
¹⁰ The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
¹¹ Department of Pathology, The Ohio State University, Columbus, Ohio, USA.
¹² Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA.
¹³ Department of Pathology, Massachusetts General Hospital/Harvard Medical School, Boston, Massachusetts, USA.
¹⁴ DNA Microarray CGH Laboratory, URMC Central Laboratory, University of Rochester Medical Center, West Henrietta, New York, USA.
¹⁵ Department of Pathology, Medical College of Georgia, Augusta University, Augusta, Georgia, USA.

PMID: 40304265
DOI: 10.1002/ajh.27688

Abstract

The latest updates to the classification of hematolymphoid malignancies using the World Health Organization (WHO, 5th ed.) and ICC (International Consensus Classification) criteria highlight the critical need for comprehensive and precise cytogenomic data for diagnosis, prognostication, and treatment. This presents significant challenges for clinical laboratories, requiring a complex workflow using multiple assays to detect different types of structural chromosomal variants (copy number changes, fusions, inversions) across the entire genome. Optical genome mapping (OGM) is an advanced cytogenomic tool for genome-wide detection of structural chromosomal alterations at the gene/exon level. Studies demonstrate that OGM facilitates the identification of novel cytogenomic biomarkers, improves risk stratification, and expands therapeutic targets and personalized treatment strategies. OGM is easy to implement and highly accurate in detecting structural variants (SVs) across various diagnostic entities. Consequently, many centers are integrating OGM into the clinical cytogenetic workflow for hematological malignancies. However, systemic clinical adoption has remained limited due to the lack of expert recommendations on clinical indications, testing algorithms, and result interpretation. To address this, experts from the International Consortium for OGM and relevant multidisciplinary fields developed recommendations for the integration of OGM as a standard-of-care cytogenetic assay for the diagnostic workflow in various clinical settings. These recommendations standardize the use of OGM across laboratories, ensure high-quality cytogenetic data, guide clinical trial design and development, and provide a basis for updates to diagnostic and classification models.

Keywords: AML; CLL; MDS; OGM; chromosomal abnormalities; optical genome mapping; structural variants.

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References

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Integration of Optical Genome Mapping in the Cytogenomic and Molecular Work-Up of Hematological Malignancies: Expert Recommendations From the International Consortium for Optical Genome Mapping

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Integration of Optical Genome Mapping in the Cytogenomic and Molecular Work-Up of Hematological Malignancies: Expert Recommendations From the International Consortium for Optical Genome Mapping

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Abstract

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