Clinical significance of the whole-exome studies in myeloid neoplasms using next-generation sequencing

FUNDAMENTAL RESEARCH , ,

S.A. Smirnikhina1, A.V. Lavrov1, E.P. Adilgereeva1, A.G. Turkina2, S.I. Kutsev1,3

1 FSBI «Research Centre for Medical Genetics» RAMS, Moscow, Russian Federation

2 FSBI «Hematological Research Centre» Russian Ministry of Health, Moscow, Russian Federation

3 SBEI HPE «Russian National Research Medical University n.a. N.I. Pirogov» Russian Ministry of Health, Moscow, Russian Federation

ABSTRACT

The application of next generation sequencing (NGS) to study myeloid neoplasms pathogenesis is considered in this review. Analysis of tumor cell’s exome in patients with different forms of hematopoietic myeloid tumors revealed new recurrent mutations, significant for the understanding of molecular mechanisms of pathogenesis, estimation of therapy effectiveness prognosis, development the new approaches to target therapy of these diseases.

Keywords: exome, next generation sequencing, myeloid neoplasms.

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