Table 2.

Clinical impact of noninvasive disease detection at distinct disease milestones in myeloid malignancies

DiagnosisPrecancerous conditionDiagnosis/pretreatmentDuring therapyPosttreatment/surveillanceRelapse/progression
AMLHealthy PBMC: harbor age-dependent aberrations associated with overt AML/MDS138-142CTC or malignant BM cell: genotyping defines molecular prognostic factors150,151; genotyping might identify therapeutic targets (eg, FLT3)151,152CTC or malignant BM cell: positivity and kinetics during therapy predict risk of relapse155,157CTC or malignant BM cell: positivity postinduction and postconsolidation predicts clinical outcome156,157,161,164CTC or malignant BM cell: profiling identifies emergent clones at relapse163; profiling identifies relapse161
CMLCTC or malignant BM cell: BCR-ABL1 levels predict clinical outcome168-170; profiling identifies resistance mutations176,177,180,181CTC or malignant BM cell: rising BCR-ABL1 levels indicate progression178
MPNCTC or malignant BM cell: genotyping is part of diagnostic criteria189CTC or malignant BM cell: levels predict clinical outcome190,191
  • Role of PBMC, CTC, ctDNA, and BM cell profiling for detection of premalignant states in healthy individuals, identification of clinically relevant biomarkers, and prediction of outcome in myeloid malignancies at distinct disease milestones.