Molecular Cytogenomic Testing in AML: What You Might Be Missing

Cytogenetics encompasses a collection of methodologies which seek to identify large-scale (>100kb) structural alterations in the genome. With molecular advances, results from multiple different technologies are used together to diagnose and stratify patient risk for hematological malignancies. In many cases, two or more assays are required to make an accurate assessment of structural alterations because of limitations and strengths of each, slowing time to diagnosis. Here we show the utility of OncoTerra, an NGS-based cytogenomics assay with the Element Biosciences AVITI sequencing platform to improve the identification of known and novel structural genomic variants in de novo acute myeloid leukemia samples.