Table 2 Recommended tests for monitoring or investigating CML patients on treatment.
ROUTINE INVESTIGATIONS ON THERAPY | EXPERIMENTAL/CLINICAL TRIALS | |
|---|---|---|
Interphase FISH | • Not recommended May be useful for monitoring response if quality-controlled RT-qPCR not available, including patients with atypical BCR::ABL1 fusions. Cannot be used to define MMR or DMR. | • Not recommended |
Qualitative RT-PCR | • Not recommended Very limited value for monitoring response to treatment. | • Not recommended |
Cytogenetics | • Suggested at overt hematological relapse, failure according to ELN, or suspected/overt disease progression • Considered in cases in remission but abnormal blood counts Only technique that can detect prognostically-significant ACAs acquired during the course of disease, and chromosome abnormalities in Ph-negative cells. | • Should be considered |
Quantitative RT-qPCR or RT-dPCR | • Mandatory for routine molecular monitoring Only technique(s) that can quantify disease levels over full response range specific by ELN and other clinical recommendations, including DMR | • Mandatory |
NGS panel for myeloid and lymphoid genes | • Suggested at overt hematological relapse and suspected or overt disease progression May be helpful to confirm progression and occasionally identify potential therapeutic targets | • Recommended Panel analysis during remission useful to determine if variants detected pre-treatment are somatic/germline/clonal hematopoiesis |
BCR::ABL1 TKD mutations | • Strongly recommended in cases who fail to reach defined ELN milestones or loss of MMR on TKI therapy Informs subsequent treatment in many cases | • Strongly recommended |
