Purpose: Chronic myeloid leukemia (CML), a hematopoietic stem cell disorder, which sometimes presents with fatigue, hepato-splenomegaly, and weight loss but is sometimes asymptomatic, is discussed.
Summary: Diagnosis is suspected on the observation of an increased white blood cell count and is confirmed by the presence of the Philadelphia (Ph) chromosome. CML progresses through a series of three defined stages with survival times of 3-5 years if untreated. The chromosomal translocation creating the Ph chromosome creates the BCR-ABL fusion protein, which is the initiating factor for CML. BCR-ABL is a constitutively active tyrosine kinase, which transforms hematopoietic stem cells through dysregulation of proliferation, apoptosis, differentiation, and cell adhesion. The transformation process is then accelerated by the accumulation of additional translocations. This fusion protein has been used clinically as a therapeutic target and a sensitive marker for measuring residual disease. Techniques, such as cytogenetic analysis of chromosomes, allow for the visualization of the Ph chromosome and additional translocations and abnormalities. The more sensitive fluorescent in situ hybridization assay can directly visualize the bcr-abl translocation through merged fluorescent tags. Polymerase chain reaction, the most sensitive of the assays, can be used to detect minute amounts of bcr-abl mRNA and this has made it possible to monitor and detect minimal residual disease recurrence and disease progression, thus greatly enhancing patient care.
Conclusion: A variety of monitoring techniques can be employed during CML therapy, providing degrees of quantifying disease burden or absence of disease.