Comparative Analysis of Npm1 Gene Mutations Detection Results Using Sequencing and Immunohistochemical Technique

Immunology, microbiology, genetics

Vinogradov A.V., Rezaikin A.V., Salakhov D.R., Ioschenko S.E., Sergeev A.G.

Abstract.

Aim of research is to analyze of NPM1 gene mutations detection results using sequencing and immunohistochemical technique. Frequency of NPM1 gene exon 12 mutations was detected using automatic sequencing technique in AML was 15,7% and differed depending on morphological type, karyotype of leukemic cells and also on presence of genetic abnormities in other oncogenes and tumor suppressor genes. Tetranucleotide insertion of exon 12 NPM1 gene, being primary genetic event, with high frequency identify with secondary mutations of FLT3 and KIT genes, which determines cooperation of alteration of genes expression device and cell signal pathways on molecular level.

Key words:

acute myeloid leukemia, NPM1 gene, mutations, sequensing, immunohistochemistry.

Authors:

Vinogradov Alexander V.

e-mail: vinogradov-av@russia.ru
Ural State Medical University
3 Repin str., Yekaterinburg, Russia, 620028

Rezaikin Aleksey V.

e-mail: alexrez@usma.ru
Ural State Medical University
3 Repin str., Yekaterinburg, Russia, 620028

Salakhov Denis R.

e-mail: salahov-86@mail.ru
Sverdlovsk Regional Clinical Hospital N1 
185 Volgogradskaya str., Yekaterinburg, Russia, 620102

Ioschenko Sergey E.

e-mail: ioshhenko@inbox.ru
Sverdlovsk Regional Oncological Centre
29 Sobolev str., Yekaterinburg, Russia, 620036

Sergeev Alexander G.

e-mail: sergeev@usma.ru
Ural State Medical University
3 Repin str., Yekaterinburg, Russia, 620028