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Vol 52(2018) N 2 p. 200-205; DOI 10.1134/S0026893318020048 Full Text

A.Yu. Ikonnikova1, Yu.I. Ammour2, A.V. Snezhkina1, G.S. Krasnov1, A.V. Kudryavtseva1, T.V. Nasedkina1,2*

Identification of Fusion Transcripts in Leukеmic Cells by Whole-Transcriptome Sequencing

1Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, 119991 Russia
2Federal Research and Clinical Center of Pediatric Hematology, Oncology, and Immunology, Moscow, 119117 Russia

*nased@eimb.ru
Received - 2016-11-22; Accepted - 2016-12-25

Genetic aberrations in leukemia often lead to the formation of expressed chimeric genes, which should be assessed for proper diagnosis and therapy. Modern methods of molecular diagnostic mainly allow to identify already known fusion genes. RNAseq is an efficient tool for identification of rare and novel chimeric transcripts. Here we present the results of the whole transcriptome analysis of bone marrow samples from five patients with acute myeloblastic leukemia and one, with myelodysplastic syndrome. The whole-transcriptome analysis was performed using Illumina/Solexa approach. We found rare or unknown chimeric transcripts including ETV6-MDS1, MN1-ETV6, OAZ1-PTMA, and MLLT10-GRIA4. Each of these transcripts was confirmed by RT-PCR and Sanger sequencing.

massive parallel sequencing, fusion genes, whole-transcriptome analysis, acute leukemia



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