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Vol 53(2019) N 3 p. 354-361; DOI 10.1134/S0026893319030087 Full Text

L.G. Ghukasyan1, G.S. Krasnov1, O.V. Muravenko1, L.V. Baidun2, S.Z. Ibragimova3, T.V. Nasedkina1,4*

Mutational Profiling of Pediatric Myeloid Leukemia Subtypes without Clinically Significant Chromosomal Aberrations

1Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, 119991 Russia
2Russian Children's Clinical Hospital, Pirogov Russian National Research Medical University, Moscow, 119571 Russia
3Scientific Research Institute of Haematology and Blood Transfusion, Tashkent, 100185 Uzbekistan
4Dmitry Rogachev National Medical and Research Center of Pediatric Haematology, Oncology and Immunology, Moscow, 119117 Russia

*nased@biochip.ru
Received - 2018-11-21; Revised - 2018-12-07; Accepted - 2018-12-07

The discovery of novel significant molecular and genetic markers is important for the diagnostics, prognosis, and therapy selection in hematological malignancies. Distinct cytogenetic aberrations leading to the formation of fusion genes are found in more than 40% of pediactric cases of acute myeloid leukemia (AML); however, the tumor cells in approximately 20% of these patients display cytogenetically normal karyotype (NK-AML). Here we present the analysis of the mutational profiles of leukemic cells collected from pediatric AML cases without known clinically significant chromosomal aberrations aimed at identifying AML specific markers. In 34 pediatric cases of different AML types, the coding regions of 26 genes involved in the AML pathogenesis were analyzed by massive parallel sequencing. Sequencing revealed the somatic mutations in genes that are involved in various intracellular signaling pathways, including the CEBPA, ETV, IDH1, JAK2, and NRAS genes. In addition, rare genetic variants were found in CUX1, FLT3, TET2, PTPN11, and NUP98 genes. This data may contribute to the understanding of the mechanisms of malignant cell transformation in the case of leukemogenesis.

massive parallel sequencing, acute myeloid leukemia, somatic mutations



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