• Main page
• About the journal
• Editorial board
• Subscription
• Information for contributors
• Editorial and Peer Review
• Issues archive
• Authors
• Articles
  • By alphabet
  • By category
• Blogs and comments

The journal is included into The list of leading scientific periodicals.

The journal is included into VINITI database and is registered in Electronic scientific library.

The journal is indexed by SCOPUS, Ulrich's International Periodicals Directory.

EBSCO

https://doi.org/10.14300/mnnc.2021.16005

Mutational status of acute myeloblastic leukemia with maturation (M2) in adult patients

[Internal diseases]
Alexander Vladimirovich Vinogradov; Alexey Vasilievich Rezaykin; Sergey Vladimirovich Sazonov; Evgeny Shchetinin; Dmitry Bobryshev; Alexander Grigorievich Sergeev;

Bone marrow and peripheral blood samples were examined in 77 patients (pts) with de novo AML with maturation (M2 according to FAB classification), including 20 pts aged 17–44, 24 pts aged 46–60, 33 pts aged over 60 years in the period 2008–2020. Detection of chromosomal mutations was performed using the standard cytogenetic method (G-banding) and real-time polymerase chain reaction. Mutations in the genes ASXL1 (exons 12–13), c-KIT (exons 7–12 and 16–19), DNMT3A (exons 18–26), FLT3 (exons 12–15 and 19–21), KRAS (exons 1–4), NPM1 (exons 9–12), NRAS (exons 1–4), TP53 (exons 4–11), and WT1 (exons 6–9) were studied by direct automatic mRNA-sequencing.

The overall frequency of gene mutations in AML M2 was 37.7%, with the most common mutations being identified in the FLT3 (14.5 %), NRAS (14.0 %), TP53 (11.3 %), ASXL1 (10.0 %) and NPM1 (8.2 %) genes. Mutations in the KRAS gene were not detected, which may be due to the sample size. The frequency of double mutations in AML M2 samples was 7.9 %, the average number of mutations per specimen was 1.2, and mutations in the FLT3 and NPM1 genes were most often cooperated. The average age of pts with leukemia cells carrying mutations in the ASXL1, c-KIT, FLT3, NPM1, NRAS, and WT1 genes corresponded to middle age, TP53 – to elderly age, and DNMT3A – to senile age. The average age of double mutants AML M2 pts also corresponded to elderly age.

Download

References:
1. Arber D. A., Orazi A., Hasserjian R., Thiele J., Borowitz M. J. [et al.]. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391-2405. https://doi.org/10.1182/blood-2016-03-643544
2. Yu J., Li Y., Zhang D., Wan D., Jiang Z. Clinical implications of recurrent gene mutations in acute myeloid leukemia. Experimental Hematology & Oncology. 2020;9:4. https://doi.org/10.1186/s40164-020-00161-7
3. Jung J., Cho B.S., Kim H.J., Han E., Jang W. [et al.]. Reclassification of acute myeloid leukemia according to the 2016 WHO classification. Annals of Laboratory Medicin. 2019;39(3):311-316. https://doi.org/10.3343/alm.2019.39.3.311
4. Kao H. W., Liang D.-C., Wu J.-H., Kuo M.-C., Wang P.-N. [et al.]. Gene mutation patterns in patients with minimally differentiated acute myeloid leukemia. Neoplasia. 2014;16(6):481-488. https://doi.org/10.1016/j.neo.2014.06.002
5. Mason E. F., Hasserjian R. P., Aggarwal N., Seegmiller A. C., Pozdnyakova O. Blast phenotype and comutations in acute myeloid leukemia with mutated NPM1 influence disease biology and outcome. Blood Advances. 2019;3:3322-3332. https://doi.org/10.1182/bloodadvances.2019000328
6. Rose D., Haferlach T., Schnittger S., Perglerova K., Kern W., Haferlach C. Subtype-specific patterns of molecular mutations in acute myeloid leukemia. Leukemia. 2017;31(1):11-17. https://doi.org/10.1038/leu.2016.16
7. Vinogradov A. V., Rezaykin A. V., Sazonov S. V., Sergeev A. G., Kapitonova M. Yu. Molekulyarno-geneticheskij analiz mutatsij v genakh ASXL1, FLT3, KIT, NPM1, NRAS, TP53 i WT1 u bol’nykh ostrymi mieloidnymi lejkozami zrelogo vozrasta. Meditsinskii vestnik Severnogo Kavkaza. – Medical News of North Caucasus. 2020;15(1):32-36. (In Russ.). https://doi.org/10.14300/mnnc.2020.15006
8. Kumar S., Stecher G., Li M., Knyaz C., Tamura K. MEGA X: Molecular Evolutionary Genetics Analysis across Computing Platforms. Molecular Biology and Evolution. 2018;35(6):1547-1549. https://doi.org/10.1093/molbev/msy096

Keywords: acute myeloblastic leukemia with maturation, chromosomal aberrations, gene mutations, direct sequencing, age