Hematological Neoplasm Cytogenetics Profiled With Optical Genome Mapping

For a paper appearing in the Journal of Molecular Diagnostics, researchers at Augusta University, Emory University, and Bionano Genomics assess optical mapping as an approach to provide cytogenetic profiling in hematological neoplasms such as acute myeloid leukemia, chronic lymphocytic leukemia, chronic myeloid leukemia, myelodysplastic syndromes or myeloproliferative disorders/neoplasms, plasma cell myeloma, or lymphoma. Based on 92 optical genome mapping runs representing 59 retrospectively analyzed hematological neoplasms and 10 cancer-free control samples, the team found that the strategy had high specificity, accuracy, and sensitivity compared to conventional cytogenetics methods such as karyotyping, fluorescence in situ hybridization, and chromosomal microarrays, suggesting the approach may be beneficial in the clinic. "The cytogenetic analysis of hematological neoplasms is of critical importance for accurate diagnosis, classification, prognostication, therapy selection, and disease monitoring," the authors write, noting that "there has been a significant interest to validate [optical genome mapping] technology, as it detects all classes of [structural variants] in a single assay.