Development of a genetic test for evaluating 5-year survival of patients with acute myeloid leukemia and myelodysplastic syndrome

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Abstract

Aim. To study the mutations in the gene CEBPA - a transcription factor that plays an important role in myeloid differentiation. Methods. Venous blood or bone marrow biopsy specimen samples from 16 patients with acute myeloid leukemia served as the materials for the study. The method of investigation - polymerase chain reaction followed by sequencing. Results. The obtained data was analyzed; the patients are under active surveillance. Since the most common and prognostically meaningful are the combinations of N- and C-terminal mutations, in the case of a «hot spot» detection (the combination of certain mutations) a more feasible test can be developed. Identifying groups of patients with favorable and unfavorable prognosis will dramatically affect the tactics of patient management: its radicalism, aggressiveness and cost of treatment. Conclusion. A small number of examinees does not yet make it possible to establish a statistically significant correlation between specific mutations and prognostic significance, as well as to identify the combinations of most frequent mutations.

About the authors

E V Glukhanyuk

Ural State Medical Academy, Ekaterinburg, Russia; Moscow State University named after M.V. Lomonosov, Moscow, Russia

Email: evgengluhanuk@gmail.com

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© 2012 Glukhanyuk E.V.

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