[Chromosome analysis of and genetic testing for myeloid leukemia]

The disease-specific chromosomal abnormalities can be observed in various hematological malignancies, detected by chromosome analysis and/or genetic testing. Genetic testing enables the accurate diagnosis of the type of leukemia resulting from chromosome translocation and hence is useful for the choice of adequate treatment. Furthermore, genetic testing allows the detection of minimal residual disease (MRD) due to its high sensitivity. In recent years, a lot of information has been gained on the evaluation of MRD, e.g., the amount of MRD corresponding to morphological recurrence or requiring the treatment. Thus, the usefulness of MRD quantification at genetic level by real-time PCR has been established. At present, however, there is no standard laboratory procedure for leukemia genetic testing. Here, the problems related to external precision management of this new test are also discussed.