Study of the average age of occurrence of gene mutations in acute myelomonoblastic leukemia

A.V. Vinogradov

Sverdlovsk Regional Clinical Hospital N 1, Yekaterinburg, Russian Federation;

Ural State Medical University, Yekaterinburg, Russian Federation

Abstract. Aim: to determine the average age of occurrence of gene mutations in acute myelomonoblastic leukemia (AMML). Materials and methods. Bone marrow and peripheral blood samples from 40 patients (average age 50 years, including 13 aged 15 to 45 years, 15 aged 45-60 years, 12 aged over 60 years) with newly detected AMML were examined. Detection of chromosomal abnormalities was performed using standard cytogenetic and real-time polymerase chain reaction methods. Point mutations were screened in 8 genes: FLT3 (n=35), NPM1 (n=25), TP53 (n=24), C-KIT (n=23), NRAS (n=19), WT1 (n=18), DNMT3A (n=13), and KRAS (n=4) by direct automatic sequencing method. Results. The majority of patients (56.3%) had a normal karyotype, 15.6% had aneuploid karyotype, and 28.1% had other structural and quantitative chromosome abnormalities. 35.0% of patients had point mutations in the studied genes at the time of diagnosis of OMML. The highest mutation rates were found for the DNMT3A (30.8%), NPM1 (20.0%), and FLT3 (20.0%) genes. The frequency of double mutants was 15.2%. The average age of detection of mutations in the c-KIT and NPM1 genes corresponded to young adults (33.5±2.9 and 44.2±11.4, respectively), for 3 genes — to middle age (DNMT3A — 49.3±18.4; WT1 — 51.0; FLT3 — 54.0±12.3), for the TP53 gene — to the elderly (n=1, 63 years). The average age of double mutants was 42.2±13.7 years due to NPM1 and c-KIT co-mutations.

Keywords: acute myelomonoblastic leukemia, c-KIT gene, DNMT3A gene, FLT3 gene, NPM1 gene, TP53 gene, WT1 gene, age

There is no conflict of interest.

Contact details of the corresponding author:

Alexander V. Vinogradov

a.vinogradov@egov66.ru

Received 26.11.2020

For citation:

Vinogradov A.V. Study of the average age of occurrence of gene mutations in acute myelomonoblastic leukemia. URL: http://vestnikural.ru/article/1139 [Online] Vestn. Ural. Med. Akad. Nauki. = Journal of Ural Medical Academic Science. 2020, Vol. 17, no. 3, pp. 206–209. DOI: 10.22138/2500-0918-2020-17-3-206-209 (In Russ)

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Author

Alexander V. Vinogradov

Sverdlovsk Regional Clinical Hospital N 1, Department of Hematology, Sverdlovsk Regional Ministry of Health, Department of Healthcare for Adults

Hematologist, MD, chief therapist of Sverdlovsk Regional Ministry of Health

Russian Federation, 620014, Ekaterinburg, Weiner str., 34b

a.vinogradov@egov66.ru