THE Analysis of CEBPA, NPM1, FLT3 and P53 gene mutations in groups of patients with myelodysplastic syndrome and acute nonlymphocytic leukaemia

The article presents the molecular genetic analysis of the prevalence of somatic mutations in FLT3, NPM1, CEBPA, and p53 genes in a group consisting of 23 patients with myelodysplastic syndrome MDS (option - refractory anemia with excess blasts, RAEB) and 97 patients with acute nonlymphoblastic leukemia (ANLL). It was ascertained that FLT3-ITD mutations in the group of patients with MDS RAEB occur with the prevalence of 8,7 ± 5,9 %, while in the group with ANLL they are observed in 22,7 ± 4,3 % cases. FLT3 D835 mutations were detected only in the ANLL group with the prevalence of 7.2±2.6 %. NPM1 gene mutations were detected in 8,7 ± 5,9 % of MDS RAEB cases and in 21,6 ± 4,2 % of ANLL cases. CEBPA somatic mutations were found in 11,3 ± 3,2 % of ANLL cases, while the group of MDS RAEB was free of them. Mutations in the p53 gene were detected in 17,4 ± 7,9 % of MDS RAEB cases and in 10,3 ± 0,3 % of ANLL cases. All the detected CEBPA and p53 gene mutations were described by means of direct sequencing. The analysis results show that the use of molecular genetic markers in combination with cytogenetic ones makes it possible to expand the group with prognostic markers by 41,3 % in comparison with the use of only cytogenetic data.

миелодиспластический синдром, острый нелимфобластный лейкоз, мутации генов, FLT3, NPM1, CEBPA, p53, myelodysplastic syndrome, acute nonlymphoblastic leukemia, gene mutation, FLT3, NPM1, CEBPA, p53

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