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Variants in the ASXL1 and DMNT3A genes are potential markers of the effectiveness of tyrosine kinase inhibitors therapy in chronic myeloid leukemia

Abstract

Chronic myeloid leukemia (CML) is an oncohematological disease. Great success has been achieved in the treatment of CML due to the development of targeted drugs for tyrosine kinase inhibitors (TKI), but about 20-40% of patients are resistant to therapy. The aim of the study was the detection of exome variants causing resistance to CML therapy. We examined the exomes of 60 CML patients using the Illumina NextSeq® 550 Sequencing System platform. In the group of patients resistant to TKI therapy, loss-of-function variants were revealed in the ASXL1 and DNMT3A genes. Identified variants may be associated with resistance to TKI therapy.

About the Authors

E. P. Adilgereeva
Research Centre for Medical Genetics
Russian Federation


A. G. Nikitin
Federal Pulmonology Scientific and Research Institute, Federal Medical-Biological Agancy of Russia
Russian Federation


D. G. Zheglo
Research Centre for Medical Genetics
Russian Federation


O. A. Shukhov
Hematological Scientific Center, Russian Academy of Medical Sciences
Russian Federation


S. A. Smirnikhina
Research Centre for Medical Genetics
Russian Federation


E. Y. Chelysheva
Hematological Scientific Center, Russian Academy of Medical Sciences
Russian Federation


A. V. Lavrov
Research Centre for Medical Genetics
Russian Federation


A. G. Turkina
Hematological Scientific Center, Russian Academy of Medical Sciences
Russian Federation


S. I. Kutsev
Research Centre for Medical Genetics
Russian Federation


Review

For citations:


Adilgereeva E.P., Nikitin A.G., Zheglo D.G., Shukhov O.A., Smirnikhina S.A., Chelysheva E.Y., Lavrov A.V., Turkina A.G., Kutsev S.I. Variants in the ASXL1 and DMNT3A genes are potential markers of the effectiveness of tyrosine kinase inhibitors therapy in chronic myeloid leukemia. Medical Genetics. 2020;19(6):88-89. (In Russ.)

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ISSN 2073-7998 (Print)