Complex cytogenetic research of cryptic chromosomal aberrations in patients with multiple myeloma


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Abstract

Background . Multiple myeloma (MM) is a malignant lymphoproliferative B-cell disease characterization by clonal proliferation of plasma cells in the bone marrow and beyond its borders. Currently, a wide range of cytogenetic anomalies and molecular-biological parameters are studied as prognostic factors.
Objective: a comparative study of the frequency, features and clinical significance of chromosomal abnormalities in MM by conventional cytogenetic and fluorescent in situ hybridization (FISH) methods.
Materials and methods . 77 patients with MM, which admitted in N.N. Blokhin National Medical Research Center of Oncology, were included in the study from 2016 to 2017.
Results . Chromosomal alterations were detected only in one case (1/77) by conventional cytogenetic method G-banding. However cytogenetic aberrations were revealed in 26 % of cases (20/77) using FISH. Deletions of different regions of chromosomes, indicating the possible presence of a hypodiploid clone or loss of some regions, were found in one patient in the second FISH analysis after 6 months. In the cohort of patients with chromosomal abnormalities (n = 20) a partial trisomy 11q, a deletion of the region q32 of the chromosome 14, a translocation t(4;14)(p16;q32) and IGHV gene rearrangement were determined in 30 % (6/20) as sole anomalies. Two or more cytogenetic aberrations were identified in the remaining 14 patients. Our study confirms that chromosomal abnormalities are more likely detected at later stages of MM (IA и IIA – 0 %, IIIA и IIIВ – 27 and 47 % respectively).
Conclusion . FISH allows to detect chromosomal changes in tumor plasma cells regardless of the mitosis phase. In MM, it becomes particularly important in connection with low proliferative activity of plasma cells. Additionally, in the fourth of MM patients in the study submicroscopic chromosomal aberrations were discovered using FISH. The improvement of the probe panel and the widespread use of locus specific FISH don’t replace G-banding that allows to see damages of all chromosomes at once.

About the authors

A. A. Solodovnik

N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of the Russian Federation

Author for correspondence.
ORCID iD: 0000-0001-8399-057X
24 Kashirskoe Shosse, Moscow 115478 Russian Federation

А. S. Mkrtchyan

LLC GeneTechnology

ORCID iD: 0000-0002-0638-213X
104 Profsojuznaya St., Moscow 117279 Russian Federation

V. A. Misyurin

N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of the Russian Federation

ORCID iD: 0000-0002-0762-5631
24 Kashirskoe Shosse, Moscow 115478 Russian Federation

L. A. Kesaeva

N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of the Russian Federation

ORCID iD: 0000-0001-8277-8649
24 Kashirskoe Shosse, Moscow 115478 Russian Federation

N. N. Kasatkina

N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of the Russian Federation

ORCID iD: 0000-0002-4735-977X
24 Kashirskoe Shosse, Moscow 115478 Russian Federation

O. M. Votyakova

N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of the Russian Federation

24 Kashirskoe Shosse, Moscow 115478 Russian Federation

O. Yu. Yakimovich

N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of the Russian Federation

24 Kashirskoe Shosse, Moscow 115478 Russian Federation

E. G. Medvedovskaya

N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of the Russian Federation

ORCID iD: 0000-0001-9615-6090
24 Kashirskoe Shosse, Moscow 115478 Russian Federation

A. S. Antipova

N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of the Russian Federation

ORCID iD: 0000-0002-1731-8336
24 Kashirskoe Shosse, Moscow 115478 Russian Federation

I. Z. Zavodnova

N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of the Russian Federation

ORCID iD: 0000-0001-6674-8634
24 Kashirskoe Shosse, Moscow 115478 Russian Federation

O. A. Kolomeytsev

N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of the Russian Federation

ORCID iD: 0000-0003-3430-8540
24 Kashirskoe Shosse, Moscow 115478 Russian Federation

A. D. Shirin

N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of the Russian Federation

ORCID iD: 0000-0003-3244-7774
24 Kashirskoe Shosse, Moscow 115478 Russian Federation

E. A. Osmanov

Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation

ORCID iD: 0000-0002-3067-1601
Build. 2, 8 Trubetskaya St., Moscow 119991 Russian Federation

A. V. Misyurin

N.N. Blokhin National Medical Research Center of Oncology of the Ministry of Health of the Russian Federation;
LLC GeneTechnology

ORCID iD: 0000-0003-1349-2879
24 Kashirskoe Shosse, Moscow 115478;
104 Profsojuznaya St., Moscow 117279 Russian Federation

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