Acute Myeloid Leukemia (AML)
Confirmation of the clinical diagnosis of Acute Myeloid Leukemia (AML) using genetic methods, as well as monitoring of minimal residual disease (MRD), is performed through the following tests:
A. Conventional Cytogenetic Analysis:
- Bone marrow karyotype
- Peripheral blood karyotype
B. Molecular Cytogenetic Analysis (FISH):
- Detection of translocation t(1;22)(p13;q13) (M7)
- Detection of rearrangements of the EVI1 gene [inv(3)(q21q26), t(3;3)(q21;q26), ins(3;3)(q26;q21q26), t(3;12)(q26;p13), t(3;21)(q26;q22)] (M1, M4, and M6)
- Detection of translocation t(8;21)(q22;q22), ETO/AML1 hybrid gene (M2, rarely M1 and M4)
- Detection of MLL gene (11q23) rearrangements (M5a, M4, M1, M5b, M2)
- Detection of translocation t(15;17)(q22;q11-21), PML/RARA hybrid gene (M3)
- Detection of translocation t(9;22)(q34;q11), BCR/ABL hybrid gene (M1, M2)
- Detection of trisomy 9 (M2, M4, and M5)
- Detection of inversion, translocation, or deletion of chromosome 16 [inv(16)(p13q22), t(16;16)(p13;q22), del(16)(q22)], MYH11/CBFB hybrid gene (M4eo)
- Detection of ETV6 (TEL) gene rearrangements (12p13)
- Detection of monosomy or deletion of chromosome 7 (-7/7q-)
- Detection of monosomy or deletion of chromosome 5 (-5/5q-)
- Detection of trisomy 8 (M1–M7)
- Detection of trisomy 13
- Detection of deletion of chromosome 20, del(20q12)
- Study of XX/XY chimerism after allogeneic transplantation
C. Molecular Genetic Analysis:
- Detection and quantification of the PML/RARA hybrid gene, t(15;17)(q22;q11-21)
- Detection and quantification of the ETO/AML1 hybrid gene, t(8;21)(q22;q22)
- Detection and quantification of the MYH11/CBFB hybrid gene, inv(16)(p13q22), t(16;16)(p13;q22)
- Detection of FLT3 mutation
