Karyotype abnormalities in chronic myeloproliferative neoplasms

The data accumulated by the present time about the role of genetic events in the pathogenesis of chronic myeloproliferative neoplasms (CMPN) have made it possible to develop new approaches to the diagnosis and treatment of these diseases. Despite the widespread introduction of molecular methods into the medical practice, classical cytogenetic research continues to hold one of the main positions in the diagnosis and monitoring of CMPN. Cytogenetic examination allows to evaluate the entire karyotype without reference to molecular loci and to identify marker, recurrent and unique chromosomal abnormalities having diagnostic and prognostic value. Numerical and structural abnormalities of chromosomes are detected in the karyotype of leukemic clones in a significant number of patients with CMPN, herewith the proportion of patients with an altered karyotype, as well as the spectrum of cytogenetic disorders increases with the progression of the disease. The review article examines literature data concerning the main points of the pathogenesis of CMPN and the role of a wide profile of clonal cytogenetic anomalies that can be detected in the karyotype of the patient leukemia cells.