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THE ROLE OF STANDARD CYTEGENETIC TESTING IN THE
DIAGNOSIS OF ACUTE MYELOID LEUKEMIA.
Musashaykhova Shahnoza Mamirbekovna
Associate Professor at the Department of Family
Medicine Training, ASMI
Andijan, Uzbekistan
musahsayxov1989@mail.ru
https://doi.org/10.5281/zenodo.13691399
The relevance of the problem.
Acute myeloid leukemia (AML) is a clonal
malignant disease characterized by ineffective hematopoiesis . Most patients
with AML have various cytogenetic and molecular genetic lesions that are
combined with certain biological and clinical features of the disease .
Approximately 50–60% of patients
de new
and 80–95% of patients with
secondary AML have chromosomal changes. It should be noted that structural
cytogenetic aberrations are the most common markers and occur in
approximately 40% of AML cases de novo . A fairly large group of patients with a
normal karyotype (NC-AML), formally classified as intermediate risk, is
extremely heterogeneous in terms of prognosis of the disease course. The
current prognostic classifications of AML today include only some mutations
characterized by a known prognostic value, in particular t (8 ; 21) , NPM 1 and
BRAF.
Classical karyotype analysis can detect chromosomal changes in
approximately half of patients with AML. Many chromosomal aberrations are
independent prognostic factors and are included in the current classification of
AML published by the World Health Organization (WHO).
Although some mutations are already included in the current WHO
classification and recommendations of European experts, a more detailed study
of the molecular architecture of leukemia is necessary.
The aim of the study was
to study the frequency of driver somatic
mutations in patients with AML depending on chromosomal changes.
Material and methods of research.
Material for molecular_ The genetic
study was performed on the peripheral blood of 145 patients with AML who
were in hospital treatment at the Republican Specialized Scientific and Practical
Medical Center of Hematology of the Ministry of Health of the Republic of
Uzbekistan . Clinical and laboratory studies were performed at the Republican
Specialized Scientific and Practical Medical Center of Hematology of the Ministry
of Health of the Republic of Uzbekistan.
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The results obtained and their discussion.
karyotyping of cells was performed in 83 patients out of 145 examined
patients . In accordance with the objectives of the study, we performed a
karyotype analysis using the standard cytogenetic study (SGS) method in
patients with AML.
During standard cytogenetic testing, karyotype changes were detected in
32 out of 83 patients (38.6%), while chromosomal aberrations were not
detected in 51 patients (61.4%) (karyotype 46XX or 46XY).
In male patients, chromosomal abnormalities were found in 19 of 39
(48.7%) patients, and no karyotype abnormalities were detected in 20 patients
(51.3%). In the group of female patients, chromosomal aberrations were
detected in 13 of 44 (29.5%) patients, and no karyotype changes were detected
in 31 patients (70.5%). Chromosomal aberrations were registered more
frequently among males compared to females. In young patients, karyotype
abnormalities were detected in 33.3% of cases (22 of 66), normal karyotype was
detected in 66.7% (44 of 66) patients, respectively. In elderly patients,
chromosomal abnormalities were registered in 10 of 17 patients (58.8%),
normal karyotype was detected in 7 of 17 patients (41.2%).
Thus, chromosomal aberrations were registered most frequently among
men and in elderly patients.
During the study of the t (8 ; 21) mutation
were detected in 9.7% (14 of
145) patients, while mutation of this gene was not detected in 90.3% of cases,
respectively. In 5 of 14 (35.7%) patients, only single mutations were detected. In
9 of 14 (64.3%) patients, mutations were combined. Mutations of this genetic
marker were statistically insignificantly more often detected in patients with an
altered karyotype - in 6 (18.8%) of 32 examined patients in relation to patients
without them (χ
2
= 0.1; OR = 1.2; p = 0.7; 95% CI : 0.39 -3.98 ). In the group of
patients with a favorable karyotype, t (8 ; 21) mutations were detected in only
15.7% of patients
Mutations in the inv (16;9) gene were detected in 4 (2.8%) of 145 patients
with AML. This mutation was not registered in 141 (97.2%) of 145. In all cases,
the mutation of the above-mentioned gene was combined.
When studying patients depending on the karyotype, it was found that the
highest incidence of mutations in the inv ( 16, 9) gene was detected in the group
of patients with a normal karyotype – in 3 (5.9%) of 51 patients. In the group of
patients with chromosomal aberrations, the incidence of mutation of the studied
gene was found in 1 of 32 patients (3.1%). Despite this, the differences in the
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incidence of mutation of the inv (16, 9) gene in patients with a normal karyotype
and with an altered karyotype were statistically insignificant (χ
2
= 0.3; OR = 0.5;
p = 0.6; 95% CI : 0.05 –5 ).
In the study, mutations in the NPM 1 gene were detected in 17.2% of
patients, and in 82.8% of cases this mutation was not registered.
the NPM 1 gene were detected in 16 of 25 patients. Combined mutations
were registered in the remaining 9 of 25 patients.
The study demonstrated a significantly higher frequency of distribution of
the NPM 1 mutation in patients with a normal karyotype compared to patients
with chromosomal abnormalities (35.3% versus 9.4% with χ
2
= 7.0; OR = 0.2; p
= 0.01; 95% CI : 0.06 –0.65 ).
Conclusion.
Thus, during the standard cytogenetic study, karyotype changes
were detected in 38.6% of patients, while in 61.4% of cases, chromosomal
aberrations were not detected. Chromosomal aberrations were registered most
often among men and in elderly patients. In patients with a normal karyotype,
insertions in the genes NPM 1, inv (16;9) are more often detected, while
mutations in the genes t (8;21) were more common in patients with an altered
karyotype.
