Use of the next generation sequencing (NGS) for the diagnostics of patients with myeloid neoplasms

The rapid development of NGS technology has significantly expanded theunderstanding of the pathogenesis of myeloidneoplasms. In addition to standard cytogeneticand molecular genetic studies, the NGS methodis increasingly entering into routine practice fordiagnostics of myeloid neoplasms, for predictingprognosis, and also for choosing targeted therapy.In this work, we analyzed the NGS results of thegene panel study for 21 patients with various typesand phases of myeloid neoplasms. The presence ofcertain genetic aberrations varied from 4 to 12 perpatient was shown. 6 from 9 patients with detected2 or more clinically significant mutations, had ablast transformation in the anamnesis. The patientswith driver mutations had blast transformationin presence additional mutations in the genesresponsible for epigenetic regulation and threenegatives for driver mutations patients had blasttransformation in presence additional mutations inthe genes responsible for signal transduction. Theresults of sequencing the gene panel by the NGS method can reliably help to diagnose, to determinethe prognostic features of the disease, and throughthe accumulation and systematization of data,the detection of new mutations, to contribute toa better understanding of the pathogenesis ofmyeloid neoplasms.