Abstract
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 wholetranscriptome 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.
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Abbreviations
- AML:
-
acute myeloid leukemia
- CN-AML:
-
cytogenetically normal AML
- RT-PCR:
-
reverse transcription-polymerase chain reaction
- AF9 (MLLT3):
-
super elongation complex subunit gene
- AF10 (MLLT10):
-
mixed lineage leukemia, translocated to, 10
- AML1 :
-
gene of acute myeloid leukemia protein 1
- AMPA4 (alpha 4):
-
glutamate ionotropic receptor AMPA type subunit 4 gene
- ASXL1 :
-
additional sex combs like 1 transcriptional regulator
- CBFA2T3 :
-
CBFA2/RUNX1 translocation partner 3 gene
- CBFB :
-
core-binding factor beta gene
- CEBPA :
-
CCAAT/enhancer-binding protein alpha gene
- DHH (desert hedgehog):
-
gene of the signal protein of Hedgehog family
- DNMT3A :
-
DNA methyltransferase-3-alpha gene
- ETO (eight twenty-one):
-
gene of translocation (8;21)
- ETV6 (E-twentysix):
-
gene of specific variant 6 of E26 transformation family
- EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit):
-
gene of histone-lysine-N-methyltransferase
- FLT3 :
-
gene of fms related tyrosine kinase 3
- GLIS2 :
-
GLIS family zinc finger 2 protein gene
- GRIA4 :
-
glutamate ionotropic receptor AMPA-type subunit 4
- RP1-170O19.22 :
-
gene of axonemal microtubule associated protein RP
- GPR128 :
-
gene of the G protein-coupled receptor 128
- HOXA10 :
-
homeobox A10 protein gene
- IDH1 :
-
cytosolic isocitrate dehydrogenase (NADP(+)) 1 gene
- IDH2 :
-
mitochondrial isocitrate dehydrogenase (NADP(+)) 2 gene
- MDS1 :
-
myelodysplasia syndrome 1 gene
- MLL :
-
mixed lineage leukemia gene
- MN1 :
-
gene of transcriptional regulator, meningioma proto-oncogene
- MYH11 :
-
gene of myosin heavy chain 11
- NGS:
-
next-generation sequencing
- NPM1 :
-
nucleophosmin gene
- NUP98 :
-
nucleoporin 98
- NUSAP1 :
-
nucleolar and spindle-associated protein 1 gene
- OAZ1 :
-
ornithine decarboxylase antizyme 1 gene
- PHF23 :
-
PHD finger protein 23 gene
- PML :
-
promyelocytic leukemia gene
- PTMA :
-
gene of prothymosin alpha
- RARA1 :
-
gene of retinoic acid receptor alpha
- RHEBL1 :
-
Ras homolog enriched in brain like 1 gene
- SEPT6 :
-
gene of septin 6
- TET2 :
-
tet-methylcytosine dioxygenase 2 gene
- TFG :
-
TRK-fused gene
- WDR6 :
-
WD repeat domain 6
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Original Russian Text © A.Yu. Ikonnikova, Yu.I. Ammour, A.V. Snezhkina, G.S. Krasnov, A.V. Kudryavtseva, T.V. Nasedkina, 2018, published in Molekulyarnaya Biologiya, 2018, Vol. 52, No. 2, pp. 231–237.
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Ikonnikova, A.Y., Ammour, Y.I., Snezhkina, A.V. et al. Identification of Fusion Transcripts in Leukеmic Cells by Whole-Transcriptome Sequencing. Mol Biol 52, 200–205 (2018). https://doi.org/10.1134/S0026893318020048
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DOI: https://doi.org/10.1134/S0026893318020048