THE ROLE OF THE STANDARD CYTOGENETIC STUDY OF BONE MARROW CELLS IN THE DIAGNOSIS OF ACUTE LYMPHOBLASTIC LEUKEMIA IN CHILDREN
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Date
2020
Authors
Zauatbayeva, G.
Tolegen, N.
Bayanova, M.
Journal Title
Journal ISSN
Volume Title
Publisher
International conference "MODERN PERSPECTIVES FOR BIOMEDICAL SCIENCES: FROM BENCH TO BEDSIDE”; National Laboratory Astana
Abstract
Introduction: Acute lymphoblastic leukemia is a disease of the hematopoietic system caused by a violation
of certain functions of the bone marrow. The disease is characterized by excessive proliferation of
white blood cells. Acute lymphocytic leukemia is one of the most common nosologies among pediatric
oncology, which occupies 80% of the total number of available forms of leukemia. According to the clinical
protocols (ALL IC-BFM 2009) for oncohematology, the standard cytogenetic study of metaphases in
leukemic cells is one of the most important methods for diagnosing the most significant and common
numerical and structural aberrations.
Methods: The department of clinical and genetic diagnostics is accredited according to the ISO
15189-2012«Medical laboratories - Requirements for quality and competence» in this field of accreditation.
The study involved 152children under the age of 18 with a diagnosis of acute lymphoblastic
leukemia whose linearity was determined by cytological examination of the bone marrow and flow cytometry.
Short-term cultivation of bone marrow cells in a medium with bovine serum and colcemide was
performed using a standard method. Analysis of G-banding with a resolution of 550-bands was carried
out using the Imager Z1(ZEISS) karyotyping system.
Results: During the analysis of the obtained material 30 (20%) patients were found to have such aberrations
as t(6;16)(q13;p13.1), t(8;21)(q21.3;q22), t(4;12)(p14;q13), t(1;11)(p36.1;q23), del(16)(p11), i(17)
(q10), t(9;10)(q34;q22), der(9)(q32) and the presence of marker chromosomes. In the studied bone marrow
cells, 16% of patients had a hypodiploid set of chromosomes (≤44) which gives a poor prognosis,
since the survival rate of patients in this case is only 30%. However, 60% of patients had a hyperdiploid
set (≥47) which according to some clinical data allows these cases to be attributed to a more favorable
prognosis. 80% had a normal diploid set of chromosomes.
Conclusions: Nowadays cytogenetic study of bone marrow cells in the diagnosis of acute lymphoblastic
leukemia is one of the main and mandatory methods of biological characteristics of the disease that allows
identifying chromosomal abnormalities that are of great importance to stratify the risks, treatment
and prognosis of the disease.
Description
Keywords
acute lymphoblastic leukemia, bone marrow, karyotyping, Research Subject Categories::MEDICINE