Introduction. Oncohematological patients are a vulnerable category in relation to orthopneumovirus (OPV), which affects cells of the respiratory epithelium and lung tissue. Aim: to present a clinical observation of the identification of OPV and successful ribavirin treatment of a patient with Diffuse large B-cell lymphoma (DLBCL) and acute respiratory failure (ARF) due to viral pneumonia. Main findings. Patient S., 56 years old, was diagnosed with DLBCL of the central nervous system. After the first course of chemotherapy, he developed acute kidney injury, fever, and bilateral pneumonia with ARF. DNA of Pneumocystis jirovecii was found in bronchoalveolar lavage (BAL) fluid. Therapy with co-trimoxazole and micafungin had no effect. Repeated examination of the BAL fluid did not reveal the DNA of Pneumocystis jirovecii. An extended virological examination revealed OPV RNA in a nasal smear, and ribavirin was added to the therapy. During the following days, normalization of body temperature was noted for the first time, after 3 days there was a regression of ARF. Thus, ribavirin has been shown to be highly effective in cases of confirmed OPV infection.
Introduction. Internal tandem duplication (ITD) in the FMS-like tyrosine kinase 3 (FLT3) gene is a poor prognostic factor in acute myeloid leukemia (AML). Identification of a group of such patients raises the question of prescribing targeted therapy to them. Aim: to assess the significance of minor FLT3-ITD clones in AML with NPM1 mutation. Materials and methods. The study included 58 patients belonging to the intermediate or favorable risk group. Patients underwent therapy according to the AML-21 protocol. Molecular genetic diagnostics of FLT3 mutations was performed by polymerase chain reaction (PCR) with fragment analysis (PCR-FA), PCR-FA with double label and tandem duplication PCR (TD-PCR), NPM1 mutations - by PCR-FA (primary diagnostics) and allele-specific PCR to assess minimal residual disease (MRD). Results. Using double-labeled PCR-FA and TD-PCR, allowed to identify minor FLT3-ITD clones in 12 (36 %) of 33 patients in whom these clones were not detected by the standard method. We also identified additional FLT3-ITD mutations in 13 (52 %) of 25 FLT3-positive patients. In the studied cohort no significant association of minor FLT3-ITD clones with the dynamics of MRD reduction, the percentage of patients achieving MRD-negative status, overall and relapse-free survival among patients with NPM1(+) AML was found. Conclusion. The association of minor FLT3-ITD clones with clinical features of the disease in patients with AML and NPM1 gene mutations is minimal or absent. It can be assumed that these patients do not require the use of additional more sensitive methods for detecting FLT3-ITD mutations at the primary stage of diagnosis and the inclusion of tyrosine kinase inhibitors in program therapy. However, final conclusions can be made if it is shown that the detection of minor clones with FLT3-ITD mutation at the onset is not associated with the occurrence of relapses, taking into account the treatment protocol.
Introduction. Monoclonal gammapathy is a heterogeneous group of diseases associated with the formation of a clone of plasma cells in the bone marrow and the secretion of paraprotein. Aim: to present clinical observations demonstrating the effectiveness of therapy in patients with scleromyxedema associated with monoclonal gammapathy. Main findings. Scleromyxedema is one of the dermatological manifestations of monoclonal gammapathy. It is characterized by thickening of the skin due to excessive formation and deposition of mucin in the dermis, involvement of internal organs in the process. Without therapy, this condition can cause complications from the gastrointestinal tract, respiratory, cardiovascular and nervous systems. An effective treatment method is clone-reducing therapy using proteasome inhibitors, antitumor immunomodulators, alkylating drugs, glucocorticoids, as well as subsequent melphalan chemotherapy, and autologous hematopoietic table cell transplantation. As a result of the treatment, regression of dermatological manifestations and complete reduction of the clone of plasma cells were achieved.
Introduction. The prevalence of preoperative anemia among children with congenital heart defects (CHD) has not been sufficiently studied. Anemia may be associated with postoperative complications and unfavorable outcomes after cardiac surgery. Erythrocyte suspension (ES) transfusion can also lead to undesirable side effects. There is no generally accepted approach to the preoperative preparation of patients with anemia that could improve the outcomes of surgical treatment of CHD. Aim: to study the prevalence of preoperative anemia in children with CHD and to evaluate their effect on the course of the postoperative period. Materials and methods. A retrospective analysis of the data of 253 CHD patients aged 0.1 to 215.5 months who underwent cardiac surgery between January 2022 and December 2023 was performed, of which 177 (70 %) patients underwent cardiopulmonary bypass. Among the most numerous and homogeneous group of patients classified as RACHS-1 category II, the effect of preoperative anemia on the duration of hospitalization and stay in the intensive care unit (ICU), the incidence of acute kidney injury (AKI) was analyzed. Results. Preoperative anemia was diagnosed in 25.7 % of patients. Among patients with anemia, the incidence of AKI in the postoperative period was higher than in the group of patients without anemia: 30.8 % versus 9.7 %. The presence of anemia did not affect the duration of hospitalization and ICU stay. Conclusion. The prevalence and structure of anemia before cardiac surgery in children have not been sufficiently studied. It is necessary to further search for the optimal approach to preoperative preparation of CHD patients in order to reduce the risks of postoperative complications, reduce the financial burden on healthcare institutions, and improve treatment outcomes.
Introduction. Acute myeloid leukemia (AML) is characterized by a complex clonal structure formed as a result of clonal evolution. The study of clonal evolution is dictated by the need to improve the effectiveness of therapeutic strategies for AML. Aim: to review the current understanding of the clonal evolution of AML and analyze clonal evolution in real clinical practice using the example of three clinical cases. Main findings. A description of clinical cases with AML clonal evolution included 3 patients with newly diagnosed AML. Molecular genetic analysis of FLT3 and NPM1 genes was performed using commercial kits. The article reviews the main models of clonal evolution of AML: linear and parallel. The data from the study of leukemic stem cells are presented. Clonal evolution is demonstrated using the example of three clinical observations, explanations and recommendations for the selection of therapy are given. The clonal evolution of AML is a long and continuous process, which results in the formation of a complex branching pattern of molecular genetic breakdowns involving the leukemia stem cells. In this regard, at all stages of AML development (onset, remission, relapse), it is necessary to diagnose the maximum number of molecular genetic markers. Treatment taking into account knowledge of the patterns of clonal evolution is likely to improve the effectiveness of therapy.
Introduction. Chronic pruritus (CP) is one of the symptoms of cutaneous T-cell lymphomas (CTCL), which significantly reduces the quality of life of patients. Aim: to identify the factors associated with CP and describe the phenotypes of CP in patients with CTCL to determine the factors associated with CP and describe the phenotypes of CP in patients with CTCL. Material and Methods. A total of 58 CTCL patients were examined. The assessment included psychiatric evaluation according to ICD-10 and psychometric instruments: the Eppendorf Itch Questionnaire, Beck Anxiety and Depression Inventories, Toronto Alexithymia Scale (TAS-26), and Symptom Checklist-90-R (SCL-90-R). Results. CP was found in 84.5 % of patients. CP severity correlated with lymphoma stage and depressive symptoms (p < 0.05). Psychiatric disorders were diagnosed in 39.7 %, mainly affective and cognitive. Gender, age, and education had no effect on itch occurrence, whereas longer disease duration was observed in patients without CP. In 58.8 % of cases, CP was accompanied by pleasure during scratching, indicating ambivalent affective regulation. One-third of patients exhibited formication phenomena, and almost half showed social phobia associated with shame and self-stigmatization due to visible skin lesions. Conclusion. CP in CTCL patients is a dermatological and psychoneuroimmune phenomenon Treatment should include psychiatric evaluation, correction of depression and anxiety, and psychotherapeutic support.
Introduction. For strategic planning, it is necessary to differentiate the impact of demographic changes in the population itself and the specific behavioral patterns of different age and gender groups of donors. The combination of these factors affects the structure and reliability of the donor reserve, making the analysis of long-term trends important for the strategic planning of the blood service. Aim: to analyze the changes of the age and gender composition of blood donors, compare it with the age structure of the Moscow population and assess the loyalty of various demographic groups. Materials and methods. In a retrospective study, the age and gender structure was analyzed: indicators and relative proportions of donors in six age groups (18-25, 26-30, 31-35, 36-45, 46-55, 56-99 years) separately for men and women. For each age and gender group, the proportion of repeat donors is calculated for each year of follow-up - the ratio of the number of donors who made more than one donation during the registration period to the total number of donors in this group for the corresponding period. To differentiate the influence of demographic and behavioral factors on the age structure of the donor population, a comparative analysis was carried out with the data on the age composition of the Moscow population for 2015-2024. For comparability, donors (18-30, 31-45, 46-55, 56-99 years old) were compared with the corresponding population groups (20-29, 30-49, 50-59, 60 years and older). Results. The aging of the donor population was revealed (the core shift from the 18-25-year-old group to the 36-45-year-old group, which by 2024 amounted to 30.9 %), a change in gender dominance from female (54.4 % in 2015) to male (58.9 % in 2024), as well as the superiority of loyalty of male donors aged 18-55 years. The formation of a new age core of donors was an independent behavioral phenomenon, rather than a consequence of demographic aging of the population. The COY-ID-19 pandemic period (2020-2022) acted as a catalyst for growth, but did not change the underlying demographic trends. Conclusion. It is necessary to adapt blood service strategies to the identified changes in the donor population, where behavioral factors play a key role along with demographic trends.
Introduction. Regulatory control contributed to the development of hematology, the strengthening of infrastructure and human resources, as well as the regulation of general organizational issues. Currently, the quality of the regulatory framework for the functioning and development of medicine as an industry is not completely perfect and requires development and harmonization. Aim: to study the regulatory documents regulating the provision of medical care in the field of "hematology". Materials and methods. Legislation in the field of healthcare has been studied based on search queries in the State Archive of the Russian Federation, the Consultant Plus and Garant databases. The research methods were an analytical review, analysis and synthesis of relevant information. Results. Work has been carried out on the analysis of normative and historical documents, including those not available in open sources, concerning the formation and development of hematology as part of the healthcare system. References are provided not only to archival documents, but also to current regulations governing various aspects of the organization of hematological care for patients with diseases of the blood system: infrastructural, laboratory diagnostic, documentary, personnel, registration and accounting of hematological diseases. The difficulties in the application of regulatory legal acts are shown today, when documents contradict each other at the federal level, and at the same time are ambiguously interpreted at the level of subjects of the Russian Federation, the concept of financial and organizational regulatory document management is mixed. Conclusion. Regulatory issues are the basis of the organization of both healthcare in general and care for hematological patients. The work on improving and harmonizing the regulatory framework and regulatory system is an important aspect of the work of the entire professional community in close cooperation with the Russian Ministry of Health.
Introduction. Hypoferremia is an underrecognized clinical and laboratory syndrome. Its routine markers, ferritin and transferrin saturation (TSAT), are influenced by multiple factors and may not always provide an objective assessment of iron metabolism. Aim: to evaluate the impact of preoperative hypoferremia on the development of adverse postoperative outcomes in patients undergoing elective cardiac surgery with cardiopulmonary bypass. Materials and methods. This retrospective cohort study included 233 non-anemic patients (hemoglobin concentration >130 g/L) who underwent cardiac surgery. The isolated effects of ferritin and TSAT levels on postoperative outcomes were assessed. Subsequently, patients were stratified into four groups according to ferritin (<30 or >= 30 ng/mL) and TSAT (<20 % or >= 20 %) levels. The primary endpoints were mortality and a composite endpoint including mortality, acute coronary and cerebrovascular events, heart failure, renal failure, and respiratory failure. Secondary endpoints included the duration of mechanical ventilation (MV), length of stay in the intensive care unit (ICU), and total hospital stay. Results. Isolated analysis of ferritin and TSAT revealed no significant association with the risk of adverse outcomes. Stratification demonstrated that patients with ferritin < 30 ng/mL and TSAT < 20 % had a significantly higher risk of acute kidney injury (AKI) compared with the reference group (p = 0.001). After merging groups II-IV (due to the absence of significant differences among them) and performing multivariate analysis, hypoferremia was found to be associated with an increased risk of CE (OR 3.317; 95 % CI 1.024-10.750; p = 0.045), acute heart failure (OR 4.784; 95 % CI 1.169-19.582; p = 0.030), AKI (OR 6.868; 95 % CI 1.550-30.460; p = 0.011), and red blood cell transfusion (OR 3.407; 95 % CI 1.002-11.579; p = 0.050). Hypoferremia was also associated with prolonged & Scy;MV duration and length of hospitalization. Conclusion. Hypoferremia is associated with an increased risk of adverse hospital outcomes in patients undergoing cardiac surgery. These findings support the inclusion of iron status assessment in preoperative risk stratification and underscore the importance of early detection and correction of latent iron deficiency before surgery.
Introduction. A system of specialized transfusiology care in a day hospital has been created in the Novosibirsk Region, the system for ensuring the immunological safety of allogeneic transfusions has been improved, and a new method for harvesting hematopoietic stem cells (HSCs) has been mastered. Aim: to evaluate the possibility of organizing and providing specialized medical care in the field of transfusiology in a day hospital. Material and methods. The study included the results of substitution transfusion therapy in 1,877 cases of day hospital admissions, 32,883 laboratory studies conducted in 10,276 patients who needed individual selection of RBC-containing blood components, 138 immunological studies for 28 patients with refractory transfusion who needed individual selection of platelet concentrate, 279 immunogenetic studies in 76 patients who needed selection of a compatible, HLA-gene-identical donor relative, examination of 10 HSC donors and quality control of the obtained cell products. Results. The Outpatient Transfusion Care Center provided replacement transfusion therapy with RBC containing components to hematological and oncological patients in the amount of 6,495 doses (efficacy - 99.5 %), platelet concentrates - 986 doses (efficacy - 91.2 %); individual selection of 22,385 doses of RBC-containing blood components (99.8 % selection efficiency), individual selection of 63 doses of platelet concentrates (71.4 % selection effectiveness for individuals with HLA antibodies), selection of an HLA-identical/partially identical relative donor for 19 patients (25 % effectiveness), preparation of 10 therapeutic doses of allogeneic HSCs from healthy donors. Conclusion. The results of the functioning and clinical effectiveness of the new form of specialized medical care in the field of transfusiology prove the possibility of providing transfusion care in out-of-hospital settings, ensuring the immunological safety of allogeneic transfusions and harvesting hematopoietic stem cells by a blood service institution.
Introduction. Burkitt lymphoma is an aggressive B-cell lymphoma characterized by pathomorphological, immunophenotypic, and cytogenetic features that are the main criteria for its diagnosis. Burkitt lymphoma with isolated involvement of the central nervous system (CNS) is an extremely rare nosological form of primary lymphoma of the central nervous system. The small number of observations in the literature does not allow us to fully determine the main clinical, radiological and age-related features of this lymphoma, as well as standardize the treatment tactics for patients with primary Burkitt lymphoma of the central nervous system. Aim: to present a clinical case of a patient with primary Burkitt lymphoma of the CNS with damage to the right hemisphere of the cerebellum and brainstem with compression of the cavity of the fourth ventricle. Main findings . The diagnosis was established based on the basis of pathomorphological and immunohistochemical examination of the removed neoplasm of the fourth ventricle and was confirmed by in situ fluorescence hybridization using the DNA probe MYC gene break apart detection dual-color probe, which revealed a classical translocation involving the MYC/8q24 gene. The patient underwent 4 courses of chemotherapy under the LB-M-04 program, at the end of which a regression of the neoplasm was achieved.
Introduction. The issues of public participation in voluntary non-remunerated blood donation are among the priority areas of state policy in the fi eld of healthcare. Despite signifi cant progress, contemporary demographic, geopolitical, and other challenges underscore the relevance of research in this area, which has not yet been widely explored in Russia. Aim: to identify the characteristics of Russians’ participation in blood donation. Materials and methods. The study employs an original sociological methodology, tested through a mass survey of blood donors (n = 402) conducted from July to September 2024 at the Vologda Regional Blood Transfusion Station No. 1. Results. Blood donors were found to be a highly heterogeneous community, with motivation for participation in blood donation varying signifi cantly depending on socio-demographic factors and donation frequency. The latter factor proved to be one of the most important in developing effective interaction strategies between blood services and the population. Differences between fi rst-time and regular donors were revealed in their willingness to continue donating, awareness of the need for specifi c blood types, satisfaction with their visits to the blood transfusion station (BTS), etc. These factors should be taken into account in order to enhance voluntary non-remunerated blood donation. Conclusion. The survey results provided a basis for identifying promising directions for improving donor information systems and the BTS operations. Among the main measures: implementing a fl exible appointment system for blood donation, reducing wait times for an appointment with a specialist and the donation procedure, increasing donor awareness, improving the work of the ”donor traffi c light“ system, sending mobile teams to for on-site workplace donations, placing outdoor donation advertisements and providing reserved parking for donors.
Introduction. Cell free DNA (cfDNA), being an easily accessible and promising clinical material, as previously shown in obstetrics and general oncology, is of particular interest in hematology. In recent years, the study of plasma cfDNA in hematological diseases has been gaining increasing interest among researchers and physicians. To date, a signifi cant amount of data cfDNA and tumor cfDNA (cftDNA) in patients with diseases of the blood system has been accumulated in the world literature. Aim: to study the literature data on the cfDNA in aggressive B-cell lymphomas and Hodgkin’s lymphoma (HL). Main fi ndings. The review presents the literature data on the study of cfDNA, the possibilities and limitations of using various methods of studying cfDNA in patients with aggressive B-cell lymphomas and HL.
Introduction. Chimeric Antigen Receptor T-cell (CAR-T) therapy is an effective treatment for relapsed/refractory (R/R) lymphoproliferative diseases. Hemostasis disorders can complicate CAR T-cell therapy. Aim: to examine hemostatic disorders arising during CAR T-cell therapy. Main fi ndings. CAR T-cell therapy leads to disorders of both the platelet and plasma components of hemostasis. CAR T-associated thrombocytopenia can be early (from day 0 to +30), late (from day 31 to 90), or persistent (after day +90). Treatment involves both platelet concentrate transfusions and, in some cases, thrombopoietin receptor agonists. Coagulation disorders manifest as both hemorrhagic syndrome and thromboembolic complications. Guidelines for hemostatic and anticoagulant therapy have not yet been established.
Introduction. The use of allogeneic blood components in cardiac surgery is associated with the development of complications. One of the strategies for minimizing unjustified transfusions is the use of risk stratification models for transfusion therapy. Their goal is to predict the likelihood of using blood components in a particular patient based on clinical indicators. Objective. To study the possibility of using a risk stratification model for transfusion therapy. Materials and methods. The criteria for inclusion in the study were met by patients over 18 years of age who underwent emergency and planned open-heart surgery performed between January 01, 2024 and December 31, 2024. The endpoint was considered to be allogeneic blood transfusion, which was understood to mean the clinical use of one or more units of erythrocyte-containing components, any type of plasma or concentrate throughout the duration of hospitalization. Discrimination assessment was performed using the AUC-ROC method. The calibration was evaluated using the Hosmer-Lemeshov test. Descriptive analysis was performed using categorical variables expressed in absolute numbers and percentages. The quantitative variables were expressed as means and standard deviations. Statistical analysis was performed using Microsoft Excel 2010. Results. A total of 218 patients were included in a single-center, observational, retrospective study. The accuracy of transfusion prediction was 0.67 95 % CI. The Hosmer-Lemeshov test demonstrated systematic calibration errors. In low-risk areas, the model overestimated the probability of transfusion, while in high-risk areas it underestimated it. Conclusion. The use of this model makes it possible to optimize the appointment of donated blood and reduce the number of unjustified transfusions. For clinical use, adaptation to local conditions is required.
Introduction. Cytological examination of bone marrow aspirate is a fundamental tool in the diagnosis of hematological diseases. The reference intervals for myelogram parameters serve as the primary guide for interpreting and assessing changes in the cellular elements of bone marrow. However, the reference intervals vary in the myelogram report forms of different healthcare organizations (HCOs). Aim. To analyze the reference values of myelograms used in "anchor" HCOs of the constituent entities of the Russian Federation. Materials and methods. An analysis of the reference intervals for myelogram parameters used in the "anchor" HCOs of 83 constituent entities of the Russian Federation was conducted using standard methods of descriptive statistics, expert ranking, and assessment. Results. Significant differences were identified in myelogram parameters considered as normal across different constituent entities of the Russian Federation. Reference values for myelogram parameters were absent in 1 (1.2 %) HCOs. Only 4 (4.8 %) HCOs specified the sources of their reference intervals. The remaining 78 HCOs used reference intervals from unknown sources. The analysis revealed significant disparities in the myelogram parameters accepted as normal. The upper limit for neutrophilic myelocytes varied from 10.0 % to 16.9 %, for lymphocytes from 10 % to 23.7 %, and for erythrokaryocytes from 25.0 % to 32.5 %. The permissible values for the count of blast cells in the myelogram also varied. The upper threshold for a normal blast cell count was considered >= 5 % in 7 HCOs and <1 % in 5 HCOs. Conclusion. The lack of uniform, generally accepted normal myelogram parameters complicates the diagnosis and interpretation of laboratory test results by clinicians. This article provides a brief historical overview and recommendations for standardizing reference intervals for myelogram parameters.
Introduction. The blood coagulation factor XII (FXII) is involved in opposing processes of hemostasis: contact activation of the intrinsic pathway of blood coagulation and fibrinolysis. What might the clinical picture of FXII deficiency present with: bleeding, thromboses or be asymptomatic? The issue remains debatable. Aim: To present the clinical and laboratory characteristics of patients with congenital FXII deficiency in the Russian population. Materials and methods. A retrospective study included 29 of 212 patients with FXII deficiency who underwent genetic analysis, confirming the hereditary nature of the disease. Results. The mean APTT in the study group was 187 seconds (control 29-38 sec.). The mean FXII activity was 20 %. The most common mutation of F12 in the Russian population was the nucleotide substitution c.1681-1 G>A. The reasons for contacting a hematologist and conducting diagnostics of the disease were: preoperative examination in 9 (31 %) patients; abnormalities in the coagulogram during examination prior to pregnancy planning or during examination for a chronic disease in 8 (28 %) patients; bleeding - in 7 (24 %) patients; abnormalities in the coagulogram during screening in pregnancy in 2 (7 %); family examination in 2 (7 %) patients. In 21 (72 %) of 29 patients, the clinical picture was represented by hemorrhagic manifestations. Thrombotic events were noted in 2 (7 %) of 29 patients. Among 16 (80 %) women with a history of pregnancy, miscarriages occurred in 6 (38 %). Conclusion. The diagnosis of hereditary FXII deficiency is most often established during preoperative examination. However, 24 % of patients consulted a hematologist with complaints of hemorrhagic manifestations, mostly mild or moderate. Surgical bleeding was noted in 21 % of patients. The obstetric history of more than a third of women was complicated by miscarriages. In patients with hereditary FXII deficiency, it is necessary to be wary of mild spontaneous bleeding, surgical bleeding, miscarand, to a lesser extent, thromboses.
Introduction. Systemic chemotherapy (CT) has significantly improved the treatment outcomes of classical Hodgkin lymphoma (cHL). However 20-30% of patients experience disease relapse and 10% develop refractory disease. The choice of second-line therapy for patients with relapsed or refractory (r/r) cHL often depends on the experience of the hospital and physician. Aim: To evaluate the effectiveness of autologous hematopoietic stem cell transplantation (auto-HSCT) and the role maintenance therapy of nivolumab according to the Nivo-BeGEV protocol in r/r cHL. Materials and methods. From 2019 to 2025, 134 patients with r/r cHL who received immunochemotherapy according to the Nivo-BeGEV protocol were included in a prospective clinical study. The median age was 32.5 years (range 18-64), 63 (47%) were female and 71 (53%) male. Auto-HSCT was not performed in 19 (14.1%) patients, however they received maintenance therapy of nivolumab. Auto-HSCT was performed in 115 patients, of whom 57 (49.6%) received nivolumab maintenance therapy, while 58 (50.4%) did not. Results. In the group of r/r cHL patients without risk of relapse and progression, no adverse events were recorded. For patients treated with the Nivo-BEGEV protocol followed by auto-HSCT and nivolumab maintenance progression-free survival (PFS) rates were 94% at 12 months, 89% at 24 months and 89% at 36 months. Patients who underwent only auto-HSCT or only nivolumab maintenance had PFS rates of 88%, 78% and 71% respectively (p = 0.1617). Conclusion. The study demonstrates the high significance of performing auto-HSCT combined with nivolumab maintenance therapy in patients with r/r cHL.
Introduction. The development of therapy resistance and relapses of acute myeloid leukemia (AML), especially in the intermediate prognosis group, may be due to the molecular genetic heterogeneity of tumor cells. Chromosomal microarray analysis (CMA) can detect microdeletions, duplications, and copy-neutral loss of heterozygosity (cnLOH) which may be associated with a response to therapy. Aim: to evaluate tthe frequency of copy number aberrations and cnLOH in leukemogenesis-associated genes in patients with intermediate-stage AML and and their relationship to survival and response to treatment. Materials and methods. The study included 35 patients with de novo AML from the intermediate prognosis group for ELN-2017. Copy number analysis by CMA was performed for a panel of 36 genes associated with leukemogenesis. The reference group included 102 healthy individuals without oncohematological disorders who also underwent comparable CMA testing. Results. Genomic aberrations were detected in 91.18 % of patients, most often in the genes of chromatin modifiers (64.7 % patients) and tumor suppressor genes (64.7% patients). The cnLOH type (PHF6, SMC1A, BKORL1) prevailed. KMT2A duplications occurred only in AML patients - 14.3 % (p < 0.001) and were associated with worse survival (log-rank P = 0.05). Combinations of genomic alterations involving 4-7 functional gene groups were found in 20.6% of patients. Conclusion. Driver gene aberrations, especially KMT2A duplications, are associated with an unfavorable clinical outcome in AML with an intermediate prognosis.
Introduction. The hematopoietic system is sensitive to ionizing radiation. At the same time, research on hematopoietic effects in cohorts of individuals who are chronically exposed to ionizing radiation is quite limited. Objective. To evaluate red blood cell and hemoglobin levels, and to analyze their changes over time in individuals chronically exposed to ionizing radiation. Material and methods. The study cohort consisted of nuclear workers of the Mayak PA who were hired between 1948 and 1952, totaling 7,391 individuals. These workers were followed for a period of 15 years starting from their date of hire. The analyzed dataset included 156,490 peripheral blood counts. At the end of the follow-up period, the mean accumulated red bone absorbed dose of gamma rays from external exposure was 0.81 +/- 0.79 Gy for males and 0.55 +/- 0.62 Gy for females. The mean annual gamma dose was 0.10 +/- 0.20 Gy for males and 0.07 +/- 0.15 Gy for females, and the mean maximum annua gamma dose was 0.33 +/- 0.39 for males and 0.22 +/- 0.27 Gy for females. Results. The mean red blood cell and hemoglobin levels in the study cohort of workers remained within the normal physiological range, showing only slight fluctuations throughout the entire follow-up period. Both red blood cell and hemoglobin levels in the peripheral blood decreased significantly in the first few years after the beginning of contact with ionizing radiation sources, when the highest annual absorbed gamma doses in red bone were recorded for both male and female workers. After these initial years, red blood cell and hemoglobin levels eventually returned to normal. The differences were statistically significant when the levels in first years of employment were compared to the levels reported during pre-employment health check-ups. However, no complete recovery to the pre-employment levels was observed. The hemoglobin concentration also remained within the normal physiological range throughout the entire follow-up period. However, after the recovery period, it gradually decreased until the end of the follow-up, compared to the pre-employment level. The analysis of these blood parameters in relation to gamma-ray dose from external exposure revealed a significant association of red blood cell and hemoglobin concentration with the radiation dose (p < 0,05). Conclusion. Red blood cell levels and hemoglobin concentrations registered at the pre-employment health check-up were significantly lower in females than males. In the first 15 years of employment, the mean red blood cell and hemoglobin levels were significantly decreased compared to the pre-employment levels. The red blood cell level and hemoglobin concentration were significantly associated with the gamma-ray dose from external exposure.
