The importance of cooperation between cytogenetic and molecular laboratoryin the genetic testing of hemato-oncological diseases on the exampleof a pediatric patient with acute myeloid leukemia (AML)

The genetic profiling of leukemic cells is currently the standard in routine diagnosis of haematopoietic malignancies. Detection of characteristic genetic abnormalities is extremely important in establishing the correct diagnosis and selecting the optimal treatment for the patient. In this paper we outline the problems of cytogenetic and molecular methods applied in the oncogenetic diagnostics. Moreover, we emphasize advantages and indicate limitations of these methods. Additionally, we present their practical use on the example of a comprehensive analysis of genetic changes in leukemic cells in a pediatric patient diagnosed with acute myeloid leukemia (AML). Simultaneous, proper interpretation of the results of all performed analysis – classical karyotype, fluorescence in situ hybridization (FISH), analysis of the expression of fusion genes and molecular karyotyping by microarrays, eventually led to the selection of optimal treatment which take into account the identified adverse genetic changes of the described patient.