Chronic Myeloid Leukemia (CML)
Confirmation of the clinical diagnosis of Chronic Myeloid Leukemia (CML) using genetic methods, as well as monitoring of minimal residual disease (MRD), is performed through the following tests:
A. Classical Cytogenetic Analysis:
- Bone marrow karyotype
- Peripheral blood karyotype
B. Molecular Cytogenetic Analysis (FISH):
- Detection of translocation t(9;22)(q34;q11), BCR/ABL hybrid gene
- Study of XX/XY chimerism after allogeneic transplantation
Secondary chromosomal abnormalities that serve as prognostic factors in disease progression:
- Detection of trisomy 8 (clonal evolution)
- Detection of trisomy 19 (clonal evolution)
- Detection of deletion of chromosome 17, del(17p13.1) (p53 gene) due to formation of isochromosome 17q (clonal evolution)
C. Molecular Genetic Analysis:
- Detection and quantification of the BCR/ABL hybrid gene
- Sensitivity testing for Gleevec (Imatinib), cKIT mutations (exons 8, 9, 11, 13, and 17)
