Optical genome mapping refines cytogenetic diagnostics, prognostic stratification and provides new molecular insights in adult MDS/AML patients

Myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) are clinically and genetically heterogeneous myeloid malignancies associated with a broad range of recurring mutations and cytogenetic abnormalities. To date, their diagnostic workup includes a conventional karyotype to establish the IPSS-R (Revised International Prognostic Scoring System) and ELN (European Leukemia Net) prognostic scores in MDS and AML patients, respectively [ 1 , 2 , 3 ].