Single-Cell MRD Assessment in AML Reveals Clonal Diversity and Genotype–Phenotype Discordance Missed by Bulk Methods

The Mission Bio AML single-cell Myeloid assay quantitatively characterizes SNVs and surface protein expression simultaneously across thousands of individual cells. In contrast, bulk NGS requires averaging across the entire population, preventing co-localization of joint genetic lesions or changes in cellular immunophenotype, and leukemia-associated immunophenotyping by flow cytometry can miss residual AML cells that have the same genotype, but different immunophenotype from the diagnostic population. These methods are commonly discordant, leading to clinical questions for individual surveillance and treatment. Combining these assays with single-cell resolution overcomes these limitations and reveals subclonal populations that may harbor resistance mutations or unique therapeutic targets.