Optical Genome Mapping for Cytogenetic Diagnostics in AML

SIMPLE SUMMARY: Today, the classification of acute myeloid leukemia is mainly based on genetic aberrations found in leukemic cells. Classifying this disease is necessary for exact risk stratification, which, in turn, is relevant for treatment decisions. The genetic diagnostics employed include the detection of single-nucleotide variants as well as larger structural and copy number variants. The latter are currently detected and analyzed through the combination of several methods such as chromosomal banding analysis, fluorescence in situ hybridization, and molecular genetics. Here, we review the current evidence regarding the use of Optical Genome Mapping as a single genome-wide technique for the detection of structural and copy number variations in acute myeloid leukemia. ABSTRACT: The classification and risk stratification of acute myeloid leukemia (AML) is based on reliable genetic diagnostics. A broad and expanding variety of relevant aberrations are structural variants beyond single-nucleotide variants. Optical Genome Mapping is an unbiased, genome-wide, amplification-free method for the detection of structural variants. In this review, the current knowledge of Optical Genome Mapping (OGM) with regard to diagnostics in hematological malignancies in general, and AML in specific, is summarized. Furthermore, this review focuses on the ability of OGM to expand the use of cytogenetic diagnostics in AML and perhaps even replace older techniques such as chromosomal-banding analysis, fluorescence in situ hybridization, or copy number variation microarrays. Finally, OGM is compared to amplification-based techniques and a brief outlook for future directions is given.