ArticleCancers2023
Optical Genome Mapping as an Alternative to FISH-Based Cytogenetic Assessment in Chronic Lymphocytic Leukemia.
Article in Cancers, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Utilization of RT-PCR and Optical Genome Mapping in Acute Promyelocytic Leukemia with CrypticGenes · 2024Pooled it
- Optical Genome Mapping Reveals Frequent Cryptic Structural Aberrations in Normal Karyotype Acute Myeloid Leukemia.International journal of cancer · 2026Article
- Application of artificial intelligence in laboratory hematology: Advances, challenges, and prospects.Acta pharmaceutica Sinica. B · 2025Review
- Off-target effects in CRISPR-Cas genome editing for human therapeutics: Progress and challenges.Molecular therapy. Nucleic acids · 2025Review
- Review
- The Use of Optical Genome Mapping for the Detection of Tyrosine Kinase Gene Fusions in Myeloid/Lymphoid Neoplasms.Journal of cellular and molecular medicine · 2025Article
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- Review
- Homologous recombination deficiency (HRD) testing landscape: clinical applications and technical validation for routine diagnostics.Biomarker research · 2025Review
- Prognostic impacts of marital status and other socioeconomic factors in patients with chronic lymphocytic leukemia: an analysis of SEER database.Therapeutic advances in hematology · 2025Article
- Chromoanagenesis Detection in Chronic Lymphocytic Leukemia.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy.Frontiers in genetics · 2025Article
- Genomic structural variants analysis in leukemia by a novel cytogenetic technique: Optical genome mapping.Cancer science · 2024Review
- Optical Genome Mapping for Detection ofGenes · 2024Article
- Article
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- Improving the Efficacy of Common Cancer Treatments via Targeted Therapeutics towards the Tumour and Its Microenvironment.Pharmaceutics · 2024Review
- Detection of Genomic Structural Variations Associated with Drug Sensitivity and Resistance in Acute Leukemia.Cancers · 2024Article
- Article
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Authors and funding
7 authors.
Funding
Abstract
The fluorescence in situ hybridization (FISH) technique plays an important role in the risk stratification and clinical management of patients with chronic lymphocytic leukemia (CLL). For genome-wide analysis, FISH needs to be complemented with other cytogenetic methods, including karyotyping and/or chromosomal microarrays. However, this is often not feasible in a diagnostic setup. Optical genome mapping (OGM) is a novel technique for high-resolution genome-wide detection of structural variants (SVs), and previous studies have indicated that OGM could serve as a generic cytogenetic tool for hematological malignancies. Herein, we report the results from our study evaluating the concordance of OGM and standard-of-care FISH in 18 CLL samples. The results were fully concordant between these two techniques in the blinded comparison. Using in silico dilution series, the lowest limit of detection with OGM was determined to range between 3 and 9% variant allele fractions. Genome-wide analysis by OGM revealed additional (>1 Mb) aberrations in 78% of the samples, including both unbalanced and balanced SVs. Importantly, OGM also enabled the detection of clinically relevant complex karyotypes, undetectable by FISH, in three samples. Overall, this study demonstrates the potential of OGM as a first-tier cytogenetic test for CLL and as a powerful tool for genome-wide SV analysis.
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