Recommendations for cytogenetic and molecular monitoring for patients with chronic myeloid leukemia

At diagnosis	Chromosome banding analysis (CBA) of marrow cell metaphases FISH in case of Ph negativity to identify variant, cryptic translocations Qualitative PCR (identification of transcript type)
During treatment	Quantitative real-time PCR (RQ-PCR) for the determination of BCR-ABL1 transcripts level, to be performed every three months until an MMR (BCR-ABL1 ≤0.1 percent, or MR^3.0) has been achieved, then every three to six months and/or CBA of marrow cell metaphases (at least 20 banded metaphases), to be performed at 3, 6, and 12 months until a CCyR has been achieved, then every 12 months. Once a CCyR is achieved, FISH on blood cells can be done. If adequate molecular monitoring can be ensured, cytogenetics can be spared.
Failure, progression	RQ-PCR, mutational analysis, and CBA of marrow cell metaphases. Immunophenotyping in BP.
Warning	Molecular and cytogenetic tests to be performed more frequently. CBA of marrow cell metaphases recommended in case of myelodysplasia or CCA/Ph– with chromosome 7 involvement.

The responses can be assessed either with molecular tests alone or with cytogenetic tests alone, depending on the local laboratory facilities; but, whenever possible, both cytogenetic and molecular tests are recommended until a CCyR and an MMR are achieved. Then RQ-PCR alone may be sufficient. Mutational analysis by conventional Sanger sequencing is recommended in case of progression, failure, and warning. In case of failure, warning, and development of myelodysplastic features (unexpected leucopenia, thrombocytopenia, or anemia), CBA of marrow cell metaphases is recommended.

FISH: fluorescence in situ hybridization; PCR: polymerase chain reaction; CBA: chromosome banding analysis; CCyR: complete cytogenetic response; CCA/Ph–: clonal chromosome abnormalities in Ph– cells.

This research was originally published in Blood. Baccarani M, Deininger MW, Rosti G, et al. European LeukemiaNet recommendations for the management of chronic myeloid leukemia: 2013. Blood. 2013; 122:872-84. Copyright © the American Society of Hematology.

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Recommendations for cytogenetic and molecular monitoring for patients with chronic myeloid leukemia