The importance of hematologic, cytogenetic, and molecular testing and mutational analysis in chronic myeloid leukemia

The introduction of BCR-ABL1 tyrosine kinase inhibitors (TKIs) for treatment of chronic myeloid leukemia (CML) has made it possible for this cancer to be controlled in many patients for long periods with chronic medication and regular monitoring of disease status. Hematologic and cytogenetic testing, molecular monitoring, and BCR-ABL1 mutational analysis have become integral to the routine management of CML. The information that each type of test provides is essential to confirm a diagnosis, determine the disease stage, assess response to treatment, and monitor for signals of disease progression—all of which can be used to identify patients who might require further evaluation, closer follow-up, and additional intervention, and to guide clinical decisions. This review describes how each type of test is performed, the information it provides, and the clinical importance of such information. It also uses actual patient case studies to illustrate important points. The goal of this review is to provide health care providers, particularly nursing professionals, with a clear understanding of the method and purpose of each type of test required in the management of patients with CML.