Unveiling the Complexity of KMT2A Rearrangements in Acute Myeloid Leukemias with Optical Genome Mapping

Abstract excerpt

Background: KMT2A rearrangements are major genetic entities in the classification of acute myeloid leukemias (AMLs), but their diverse and frequently cryptic nature makes their detection and characterization challenging. Karyotypic anomalies at the KMT2A locus and/or abnormal KMT2A Fluorescence in situ hybridization (FISH) results strongly indicate a KMT2A fusion, but the identification of the translocation...