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. 2023 Oct 4;37(11):2150–2167. doi: 10.1038/s41375-023-02048-y

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