Diagnosis and monitoring of chronic myeloid leukemia therapy

Abstract

The diagnosis of chronic myeloid leukemia (CML) is based on various techniques, including morphology of peripheral blood and bone marrow, conventional karyotyping and different types of polymerase chain reaction (PCR)-based methods. The phase of CML at diagnosis, revealed by morphologic investigation, is the most important risk factor before introduction of therapy. Additional cytogenetic abnormalities could have some prognostic significance and can be detected by conventional karyotyping. PCR-based methods inform about the type and quantity of BCR-ABL1 transcript. The goal of CML therapy is to reduce maximally the number of leukemic cells, therefore, diagnostic methods used for therapy monitoring should have optimal sensitivity. The complete cytogenetic response (CCyR), achieved in the optimal time, is the strongest and best confirmed measure of therapy success influencing progression free and overall survival. Similar, but less documented value has the achievement of major molecular response (MMolR). Early monitoring of BCR-ABL1 level after starting imatinib (IM) therapy may be useful in predicting response, and subsequently, it could precede the relapse or progression of the disease. In case of resistance, the analysis of ABL1 kinase mutations, IM blood level or hOCT1 expression may help in future therapy choice decision making process.
Hematologia 2010; 1, 3: 219-228