OncohematologyPub Date : 2024-04-03DOI: 10.17650/1818-8346-2024-19-2-67-74
A. Nozdricheva, I. Lysenko, N. Guskova, N. Nikolaeva, Y. Gaysultanova, S. Dimitriadi, O. G. Ishonina
{"title":"Objectification of the method for glomerular filtration rate assessing in patients with diffuse large B-cell lymphoma during induction immunochemotherapy","authors":"A. Nozdricheva, I. Lysenko, N. Guskova, N. Nikolaeva, Y. Gaysultanova, S. Dimitriadi, O. G. Ishonina","doi":"10.17650/1818-8346-2024-19-2-67-74","DOIUrl":"https://doi.org/10.17650/1818-8346-2024-19-2-67-74","url":null,"abstract":"Aim. To study the glomerular filtration rate (GFR) dynamics calculated by creatinine and cystatin C during induction immunochemotherapy in patients with newly diagnosed diffuse large B-cell lymphoma in order to objectify the method for estimation.Materials and methods. The open longitudinal study included 39 patients with newly diagnosed diffuse large B-cell lymphoma who received specialized treatment at the Oncohematology Department of National Medical Research Centre for Oncology (Rostov-on-Don) in 2021. Patients received induction immunochemotherapy according to the R-CHOP regimen (rituximab, doxorubicin, cyclophosphamide, vincristine, and prednisolone) in combination with accompanying therapy (allopurinol 300 mg/day). Blood sampling was carried out at 0, 24, 48, 72, 120 hours and on 21st day of the 1st therapy cycle. Patients were divided into 2 groups depending on the GFR level, calculated by creatinine, before treatment: group A – 27 (69 %) patients with GFR >90 ml/min/1.73 m2, group B – 12 (31 %) patients with GFR <90 ml/min/1.73 m2.Results. During the immunochemotherapy in patients with initially reduced GFR, a further decrease was observed with the restoration of the initial level by day 21 of therapy. When calculating GFR by cystatin C, in contrast to the calculation by creatinine, it revealed the dependence of GFR level on pathological process stage: GFR in group A patients with stages I–II is 20.4 % lower than in patients with stages III–IV, in group B – by 30.5 %. The use of the fisher test at GFR thresholds of 90 and 60 ml/min/1.73 m2 revealed a greater advantage in establishing absolute GFR levels, especially in the range of 60 to 90 ml/min/1.73 m2.Conclusion. The data obtained confirm that the determination of GFR by cystatin C in patients with diffuse large B-cell lymphoma is a more sensitive method that objectively reflects the functional state of the kidneys, especially when values are within the “gray area” – from 90 to 60 ml/min/1.73 m2.","PeriodicalId":518071,"journal":{"name":"Oncohematology","volume":"140 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140750272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
OncohematologyPub Date : 2024-04-03DOI: 10.17650/1818-8346-2024-19-2-56-66
A. A. Semenova, I. Galtseva, V. Troitskaya, N. M. Kapranov, Y. Davydova, K. Nikiforova, A. G. Loseva, A. A. Ermolaev, V. Surimova, S. M. Kulikov, E. N. Parovichnikova
{"title":"Immunophenotyping of blood and bone marrow cells as a way to search for differentiation syndrome risk factors in acute promyelocytic leukemia","authors":"A. A. Semenova, I. Galtseva, V. Troitskaya, N. M. Kapranov, Y. Davydova, K. Nikiforova, A. G. Loseva, A. A. Ermolaev, V. Surimova, S. M. Kulikov, E. N. Parovichnikova","doi":"10.17650/1818-8346-2024-19-2-56-66","DOIUrl":"https://doi.org/10.17650/1818-8346-2024-19-2-56-66","url":null,"abstract":"Background. Differentiation syndrome (DS) is a potentially fatal complication of therapy for acute promyelocytic leukemia (APL) with an incidence of up to 48 %. To date, no reliable DS risk factors have been found, with the exception of leukocytosis at the APL onset.Aim. To determine the risk factors associated with DS in patients with APL during induction therapy with arsenic trioxide (ATO) and tretinoin (ATRA).Materials and methods. The study included 39 patients with APL, 29 (74.4 %) of them were classified as low-risk according to ELN (European Leukemia Net), 10 (25.6 %) were classified as high-risk. At the disease onset, cytological and molecular (chimeric transcript PML::RARα, FLT3-ITD mutation) bone marrow studies were performed, the expression of 28 differentiation antigens by blood and bone marrow blast cells was determined (markers of early precursors, myeloid and lymphoid differentiation, cell adhesion molecules, chemokine receptors, integrins, selectin), body mass index (BMI) and the leukocytes number dynamics during induction course were assessed. All patients received ATRA and ATO therapy. Patients from the high-risk group at the onset received 1–3 injections of idarubicin (12 mg/m2) and dexamethasone (8–10 mg/m2 2 times a day) to prevent DS until leukocytosis reduced. In cases of DS, dexamethasone was prescribed at a dose of 10 mg/m2 2 times a day; in cases of severe DS, the induction course was interrupted.Results. Of the 39 patients, 12 (30.8 %) were diagnosed with DS: 20 % of high-risk patients (2/10) and 34.5 % of low-risk patients (10/29). There was no statistically significant association of leukocytosis more than 10 × 109 /L at onset, microgranular morphology of blast cells, bcr3-variant PML::RARα, FLT3-ITD mutation with DS. In multivariate analysis, the probability of DS was associated with BMI ≥30 kg/m2 and mean fluorescence intensity of CD38 antigen by blast cells, regardless of risk group. based on the results of the ROC-analysis, the threshold value of mean CD38 fluorescence intensity was set at 25,000 cu, if exceeded, DS is highly likely to develop.Conclusion. the high incidence of DS among low-risk patients is probably due to the lack of prophylactic glucocorticosteroids administration for the development of leukocytosis during ATRA and ATO therapy. BMI ≥30 kg/m2 and mean CD38 fluorescence intensity more than 25,000 cu were identified as statistically significant DS risk factors.","PeriodicalId":518071,"journal":{"name":"Oncohematology","volume":"129 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140747072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
OncohematologyPub Date : 2024-04-03DOI: 10.17650/1818-8346-2024-19-2-46-55
V. Potapenko, D. Abramov, V. V. Baykov, T. L. Grigorieva, M. S. Selinkina, L. O. Nikolskaya, Jean-François Emile
{"title":"Cladribine chemotherapy of multifocal, multisystemic form of Rosai–Dorfman disease: literature review and case report","authors":"V. Potapenko, D. Abramov, V. V. Baykov, T. L. Grigorieva, M. S. Selinkina, L. O. Nikolskaya, Jean-François Emile","doi":"10.17650/1818-8346-2024-19-2-46-55","DOIUrl":"https://doi.org/10.17650/1818-8346-2024-19-2-46-55","url":null,"abstract":"Rosai–Dorfman disease is the most frequent variant of non-Langerhans cell histiocytosis. Local forms can be resected or irradiated. If the process involves multiple organs, systemic chemotherapy can cure some patients. This article includes literature review and a case report of a 34-year-old patient with multifocal, multisystemic form of Rosai–Dorfman disease with bone and pleural involvement. The diagnosis was based on histological, immunohistochemical, and molecular studies of tumor tissue. Since November 2021, 6 courses of chemotherapy with cladribine and 8 infusions of zolendronic acid were carried out with achievement of durable remission. The tolerance was acceptable.","PeriodicalId":518071,"journal":{"name":"Oncohematology","volume":"88 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140747606","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
OncohematologyPub Date : 2024-04-02DOI: 10.17650/1818-8346-2024-19-2-109-117
S. Zakharov, T. Mitina, A. V. Zakharova, O. P. Madzyara, I. N. Kontievskii, R. Vardanyan, E. Kataeva, Y. Chernykh, L. Vysotskaya, L. V. Ivanitskiy, Y. Chuksina, O. R. Zhuravlev, N. V. Gorgun, Z. M. Kharasova, E. Trifonova, K. Belousov, Z. Tekeeva
{"title":"Complications of thrombopoietin receptor agonists therapy in patients with immune thrombocytopenia","authors":"S. Zakharov, T. Mitina, A. V. Zakharova, O. P. Madzyara, I. N. Kontievskii, R. Vardanyan, E. Kataeva, Y. Chernykh, L. Vysotskaya, L. V. Ivanitskiy, Y. Chuksina, O. R. Zhuravlev, N. V. Gorgun, Z. M. Kharasova, E. Trifonova, K. Belousov, Z. Tekeeva","doi":"10.17650/1818-8346-2024-19-2-109-117","DOIUrl":"https://doi.org/10.17650/1818-8346-2024-19-2-109-117","url":null,"abstract":"Immune thrombocytopenia (ITP) is an autoimmune disease characterized by increased platelet destruction and decreased platelet production. The formation of antibodies to platelet and megakaryocyte glycoproteins plays a major role in the pathophysiology of ITP. All treatment strategies for ITP attempt to increase platelet count and reduce the risk of bleeding complications. Corticosteroids remain the most commonly used first-line therapy for ITP, but their long-term use is limited due to the development of severe complications. Today the new treatment methods including the use of thrombopoietin receptor agonists (TPO-RA) romiplostim, eltrombopag and avatrombopag with a number of advantages over standard therapy are of great interest. These drugs are recommended for use in the second-line therapy and show high efficacy in patients with ITP, particularly in real clinical practice. In most cases TPO-RA provide stable and long-term remission of the disease, allowing you to reduce or discontinue the use of glucocorticosteroids and avoid splenectomy. Many studies of the mechanism of action, efficacy and toxicity of TPO-RA have been performed. the research results significantly expand our knowledge about these agents. This review provides comparative data of the TPO-RA safety and the main aspects of their clinical use. The features of the new drug avatrombopag, recently approved for use in the Russian federation, are described. the overview presents the advantages and limitations of each drug, possible adverse events and methods for their control.","PeriodicalId":518071,"journal":{"name":"Oncohematology","volume":"42 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140752266","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
OncohematologyPub Date : 2024-04-02DOI: 10.17650/1818-8346-2024-19-2-88-100
M. Makarova, M. Nemtsova, D. A. Chekini, D. Chernevskiy, O. Sagaydak, E. Kosova, A. A. Krinitsyna, M. S. Belenikin, P. A. Zeynalova
{"title":"Hereditary predisposition syndromes to myeloid neoplasms: diseases, genes and mechanisms of development","authors":"M. Makarova, M. Nemtsova, D. A. Chekini, D. Chernevskiy, O. Sagaydak, E. Kosova, A. A. Krinitsyna, M. S. Belenikin, P. A. Zeynalova","doi":"10.17650/1818-8346-2024-19-2-88-100","DOIUrl":"https://doi.org/10.17650/1818-8346-2024-19-2-88-100","url":null,"abstract":"With the development of modern next generation sequencing based DNA diagnostic methods, it has become possible to study hereditary predisposition to oncohematological diseases. Germline variants (mutations) of RUNX1, CEBPA, GATA2, ANKRD26, DDX41, FANC- (Fanconi anemia), etc. genes, associated with the development of hereditary hematological malignancies, have been identified. Timely diagnosis of such diseases will allow for medical genetic counseling and testing of the patient’s relatives to identify or exclude the risk of developing the disease, select a donor for the patient (it is undesirable to use a mutation carrier relative as a donor), and personalize the choice of chemotherapy regimens (for example, patients with Fanconi anemia may experience increased sensitivity to chemotherapy). The aim of this review is to present a modern view of the genetic predisposition to the development of hematological malignancies.","PeriodicalId":518071,"journal":{"name":"Oncohematology","volume":"32 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140752593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
OncohematologyPub Date : 2024-04-02DOI: 10.17650/1818-8346-2024-19-2-14-25
A. Vasileva, O. A. Aleshina, E. Kotova, B. Biderman, T. Obukhova, I. Galtseva, V. Dvirnyk, E. Zakharko, A. Sudarikov, E. N. Parovichnikova
{"title":"Significance of immunophenotypic, cytogenetic, and molecular markers in adult patients with T-cell lymphoblastic leukemia","authors":"A. Vasileva, O. A. Aleshina, E. Kotova, B. Biderman, T. Obukhova, I. Galtseva, V. Dvirnyk, E. Zakharko, A. Sudarikov, E. N. Parovichnikova","doi":"10.17650/1818-8346-2024-19-2-14-25","DOIUrl":"https://doi.org/10.17650/1818-8346-2024-19-2-14-25","url":null,"abstract":"Background. Current chemotherapy protocols for T-cell acute lymphoblastic leukemia (T-ALL) allow achieving a 5-year overall survival of 60–90 %, but relapsed and refractory forms remain incurable situations.Aim. To determine the significance of immunophenotypic, cytogenetic and molecular markers in adult T-ALL patients receiving therapy according to the ALL-2016 protocol.Materials and methods. From December 2016 to June 2022, 113 patients with primary T-ALL were included in the study. Cytogenetic study was performed in 104 (92 %) patients; anomalies in the IKZF1 and NOTCH1 genes were investigated in 43 (38 %) patients.Results. The worst prognosis was in patients with ETP and near-ETP variants of T-ALL (3-year disease-free survival was 54 % in ETP group, 33 % in near-ETP group vs TI/II – 79 %, TIII – 89 %, TIV – 75 %). In early T-ALL variants, abnormal karyotype was most common (ETP – 80.7 %, near-ETP – 60 %). Aberrations in NOTCH1 gene were found in 53 % of cases (in 23 out of 43 patients), and no mutations were found in IKZF1 gene in our study. In the group with no NOTCH1 abnormalities, the overall survival was significantly worse than in the group with abnormalities (NOTCH1– – 52 % vs NOTCH1+ –81 %; p = 0.05).","PeriodicalId":518071,"journal":{"name":"Oncohematology","volume":"56 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140754878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
OncohematologyPub Date : 2024-04-02DOI: 10.17650/1818-8346-2024-19-2-26-33
G. A. Radzhabova, T. T. Valiev, Yu. E. Ryabukhina, M. I. Savelyeva, S. P. Abdullaev, O. D. Gurieva, P. A. Zeynalova
{"title":"Genetic polymorphisms as predictors of methotrexate toxicity: literature review","authors":"G. A. Radzhabova, T. T. Valiev, Yu. E. Ryabukhina, M. I. Savelyeva, S. P. Abdullaev, O. D. Gurieva, P. A. Zeynalova","doi":"10.17650/1818-8346-2024-19-2-26-33","DOIUrl":"https://doi.org/10.17650/1818-8346-2024-19-2-26-33","url":null,"abstract":"Background. A significant advancement in the treatment of high-grade aggressive non-Hodgkin’s lymphomas and acute lymphoblastic leukemia is the inclusion of high-dose (1000–5000 mg/m2) methotrexate in the treatment protocol. This approach has significantly increased the long-term survival rate, but it has been associated with toxicity, requiring supportive care. Factors that predict toxicity were identified, including genes involved in the metabolism (MTHFR) or transport (SLCO1B1) of methotrexate. The analysis of methotrexate metabolism has identified additional genes responsible for the elimination of this drug, allowing for more effective prevention and treatment of methotrexate-associated toxicity.Aim. To study the genetic polymorphisms of enzymes involved in the methotrexate metabolism and associated toxicity in the treatment of pediatric acute lymphoblastic leukemia and non-Hodgkin’s lymphomas.Materials and methods. Data were analyzed in specialized medical databases such as Pubmed, Scopus, Web of Science, Frontiers, and Google Scholar from 2001 to 2024.Results. The main predictors of high-dose methotrexate-associated toxicity are gene polymorphisms in MTHFR, SLCO1B1, ARID5B.Conclusion. Despite the contradictory data presented in the literature, it is important to consider the detection of polymorphisms during high-dose methotrexate treatment in order to administer timely supportive care and prevent significant toxicity.","PeriodicalId":518071,"journal":{"name":"Oncohematology","volume":"16 19","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140753845","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
OncohematologyPub Date : 2024-04-02DOI: 10.17650/1818-8346-2024-19-2-101-108
Y. Y. Polyakov, E. Baryakh, E. Misyurina, E. Zhelnova, M. A. Mingalimov, S. A. Kardovskaya, M. Y. Smolyarchuk, T. Tolstykh, T. S. Chudnova, D. D. Ivanova, O. Kochneva, D. V. Lebedev, A. U. Abueva, A. M. Chistov, E. Zotina, I. Samsonova, M. A. Lysenko
{"title":"Persistence of a new coronavirus infection in a patient with primary central nervous system large B-cell lymphoma with assessment of the humoral immune response against SARS-CoV-2","authors":"Y. Y. Polyakov, E. Baryakh, E. Misyurina, E. Zhelnova, M. A. Mingalimov, S. A. Kardovskaya, M. Y. Smolyarchuk, T. Tolstykh, T. S. Chudnova, D. D. Ivanova, O. Kochneva, D. V. Lebedev, A. U. Abueva, A. M. Chistov, E. Zotina, I. Samsonova, M. A. Lysenko","doi":"10.17650/1818-8346-2024-19-2-101-108","DOIUrl":"https://doi.org/10.17650/1818-8346-2024-19-2-101-108","url":null,"abstract":"Treatment of immunocompromised patients with novel coronavirus infection (COVID-19) presents significant challenges. Currently, there are no unified approaches to the treatment of persistent COVID-19 in hematological malignancies. There is a need to develop recommendations for the management of such patients, chemotherapy protocols, as well as therapy for COVID-19 in case of SARS-CoV-2 virus persistence. Doctors are faced with cases of virus persistence, clinical manifestations during a long course of the infectious process and are not provided with methodological recommendations for patient supervision. As scientific data on the persistent COVID-19 course in patients with lymphoproliferative diseases accumulates, it is planned to create recommendations for the treatment of COVID-19 for patients in this group. This article describes a clinical case of persistent COVID-19 course in a comorbid patient with primary central nervous system large B-cell lymphoma during chemotherapy.","PeriodicalId":518071,"journal":{"name":"Oncohematology","volume":"104 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140755322","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
OncohematologyPub Date : 2024-04-02DOI: 10.17650/1818-8346-2024-19-2-132-140
O. Rybina, V. Sakhin, A. V. Gubkin, O. Rukavitsyn
{"title":"Pathogenesis and therapy of anemia in patients with inflammatory bowel diseases","authors":"O. Rybina, V. Sakhin, A. V. Gubkin, O. Rukavitsyn","doi":"10.17650/1818-8346-2024-19-2-132-140","DOIUrl":"https://doi.org/10.17650/1818-8346-2024-19-2-132-140","url":null,"abstract":"Background. Anemia represents one of the most frequent complications in inflammatory bowel disease and severely impairs the quality of life of affected patients. The etiology of anemia in inflammatory bowel disease patients can be multifactorial, often involving a combination of iron deficiency anemia and anemia of chronic disease. The choice of therapy, focused on the leading cause of anemia, allows for individualized therapy, minimizing the risk of side effects and the cost of therapy.Aim. A comparative analysis of blood parameters before and after treatment was performed.Materials and methods. For 5 years, 47 patients (15 women, 32 men) with inflammatory bowel disease with a median age of 48 years (from 28 to 65 years) were studied. Two groups were formed: patients with iron deficiency anemia and patients with anemia of chronic disease. Patients with combination of iron deficiency anemia and anemia of chronic disease D (n = 21) were not included. A division was also made according to the type of treatment performed.Results. In the iron deficiency anemia group, a statistically significant increase in hemoglobin level was revealed as a result of the use of intravenous iron. During therapy with oral iron and B vitamin therapy, as well as therapy aimed only at correcting gastrointestinal tract pathology, no reliable dynamics of the studied parameters was observed. In the anemia of chronic disease group, there were no significant changes in red blood cell parameters with any of the treatment options (p >0.05).Conclusion. The effectiveness of various therapeutic approaches to correct anemia is controversial. Further follow-up and an increase in the sample size are needed, which will help individualize therapy and improve the patients’ quality of life.","PeriodicalId":518071,"journal":{"name":"Oncohematology","volume":"22 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140754830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
OncohematologyPub Date : 2024-04-02DOI: 10.17650/1818-8346-2024-19-2-83-87
N. Malyuzhinskaya, M. A. Morgunova, I. V. Petrova, O. V. Polyakova, V. V. Samokhvalova, A. V. Bayurov, G. Klitochenko
{"title":"Nijmegen syndrome in childhood: a clinical case","authors":"N. Malyuzhinskaya, M. A. Morgunova, I. V. Petrova, O. V. Polyakova, V. V. Samokhvalova, A. V. Bayurov, G. Klitochenko","doi":"10.17650/1818-8346-2024-19-2-83-87","DOIUrl":"https://doi.org/10.17650/1818-8346-2024-19-2-83-87","url":null,"abstract":"Nijmegen syndrome is a rare monogenic pathology with an autosomal recessive type of inheritance. The disease is manifested by congenital developmental anomalies and microcephaly, primary immunodeficiency, frequent recurrent viral and bacterial infections, retardation in physical and neuropsychic development. In the medical literature, 150 cases of the syndrome are described; pathology occurs more often among the Slavic population. Nijmegen syndrome belongs to a group of diseases with chromosomal instability. The pathogenetic feature of the syndrome is congenital immunodeficiency of the humoral (B-lymphocytes) and cellular (T-lymphocytes) components. According to statistics, 40 % of children with Nijmegen syndrome are diagnosed with malignant neoplasms. lymphoid tissue is more often affected (non-Hodgkin’s B and T-cell lymphomas, acute lymphoblastic leukemia), and the development of solid neoplasia is also possible. To diagnose Nijmegen syndrome, in addition to assessing the patient clinical status, it is necessary to conduct an extended immunological examination with the determination of immunoglobulins A, M, G and molecular genetic studies.The article presents a clinical case of diagnosis and treatment of Nijmegen syndrome in childhood.","PeriodicalId":518071,"journal":{"name":"Oncohematology","volume":"120 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140753012","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}