4. Molecule analysis of mutations in AML

The single most important prognostic factor in AML is cytogenetic testing of bone marrow samples. Results are highly predictive of response to induction chemotherapy, relapse risk, and overall survival (OS). Approximately 50–60% of newly diagnosed AML patients can be detected by cytogenetic abnormalities [14]. To recognize cytogenetic abnormalities,


Table 2. Genetic risk classification of acute myeloid leukemia.

fluorescence in-situ hybridization technique (FISH) and DNA analysis should be done as well routine cytogenetics. Results of these tests are used for patient-risk stratification and to guide patient management. In Table 2, most of the prognostic cytogenetic abnormalities are listed, grouped by risk category [15]. AML Patients with the t(8;21)(q22;q22), t(15;17)(q22;q12), and inv (16)(p13.1;q22) are associated with longer survival and remission, whereas alterations of chromosomes 7, 5, complex karyotype, and 11q23 are associated with poor response to therapy and shorter overall survival [16]. The vital chromosomal abnormalities in AML include deletions in chromosomes 5 or 7 or monosomies and trisomy 8 [17]. Furthermore, other abnormalities consist of the balanced translocations between chromosomes 15 and 17 (t (15;17)); long arm of chromosome 11 (11q); chromosomes 8 and 21 (t(8;21)); (q22;q22), (q31; q22), and t(9;11); and inversion for instance inv (16) [18].
