Pediatric Hematology/Oncology and Immunopathology最新文献

{"title":"Current views on the etiology and pathogenesis of ALK-positive anaplastic large cell lymphoma","authors":"D. Abramov, A. Fedorova, E. Volchkov, N. Myakova, D. M. Konovalov","doi":"10.24287/1726-1708-2024-23-1-180-191","DOIUrl":"https://doi.org/10.24287/1726-1708-2024-23-1-180-191","url":null,"abstract":"   ALK-positive anaplastic large cell lymphoma is a mature T-cell lymphoma characterized by translocations that involve the ALK receptor tyrosine kinase coding gene. This illness is known to almost exclusively affect children and young adults. The biology of ALK-positive anaplastic large cell lymphoma is fairly well researched today, with recent studies focusing on the histogenesis of this neoplasm. In this review, we analyze the existing world literature data on the etiology and pathogenesis of this disease.","PeriodicalId":38370,"journal":{"name":"Pediatric Hematology/Oncology and Immunopathology","volume":"266 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140730327","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}

{"title":"Molecular pathogenesis of T-lymphoblastic lymphoma","authors":"V. R. Dneprovskii, A. Fedorova, D. Abramov, E. Volchkov, N. Myakova","doi":"10.24287/1726-1708-2024-23-1-172-179","DOIUrl":"https://doi.org/10.24287/1726-1708-2024-23-1-172-179","url":null,"abstract":"   T-lymphoblastic lymphoma (T-LBL) is one of the most common non-Hodgkin lymphomas in children. According to the 2022 WHO classification, T-LBL and acute T-lymphoblastic leukemia are considered as a single disease since they both have T-cell precursors as a morphological substrate. In recent years, some progress has been made in the treatment of this disease, but the prognosis for relapses and refractory cases remains extremely unfavorable. One of the promising areas that can increase the effectiveness of therapy is the use of new treatment approaches that consider the molecular and biological features of this tumor. This review examines in detail the molecular aspects of the pathogenesis of T-LBL.","PeriodicalId":38370,"journal":{"name":"Pediatric Hematology/Oncology and Immunopathology","volume":"39 20","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140728168","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}

{"title":"Diagnosis and Management of Myelodysplastic Syndrome in a Fanconi Anemia Patient: A Case Report","authors":"Arash Alghasi, H. Yousefi, Reza Khedri, M. Mahmoudian-sani","doi":"10.24287/1726-1708-2024-23-1-149-152","DOIUrl":"https://doi.org/10.24287/1726-1708-2024-23-1-149-152","url":null,"abstract":"   An uncommon genetic condition known as Fanconi anemia (FA) is characterized by bone marrow failure, chromosomal instability, and a high susceptibility to cancer. We report a case study of a patient diagnosed with FA who subsequently developed myelodysplastic syndrome (MDS). Informed consent was obtained from the patient’s parents/legal guardians. Consent for publication was obtained from the patient’s parents/legal guardians. We present a case of a 10-year-old boy with a known diagnosis of FA who experienced a decline in platelet count and subsequent bone marrow abnormalities suggestive of MDS. Cytogenetic analysis confirmed the diagnosis of FA with multiple chromosomal breaks, and flow cytometric analysis supported the diagnosis of MDS with excess blasts. The patient underwent a stem cell transplantation from a full matched donor (his father). Stem cell transplantation from a fully matched related donor can be effective in treating FA and associated complications. The transplantation was complicated by graft-versus-host disease and cytomegalovirus infection, however the child achieved complete normalization and exhibited no signs of diarrhea or dependence on immunosuppressive drugs at the six-month follow-up. The case report emphasizes the significance of multidisciplinary care and close follow-up for pediatric FA and MDS patients, suggesting further research and standardization of diagnostic procedures.","PeriodicalId":38370,"journal":{"name":"Pediatric Hematology/Oncology and Immunopathology","volume":"47 15","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140731881","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}

{"title":"Minimal residual disease monitoring in B-lineage acute lymphoblastic leukemia using flow cytometry. Guidelines of the Russian-Belarusian multicenter group for pediatric acute leukemia studies","authors":"A. M. Popov, E. V. Mikhailova, T. Yu. Verzhbitskaya, L. V. Movchan, Zh. V. Permikin, T. V. Shman, A. I. Karachunskiy, G. A. Novichkova","doi":"10.24287/1726-1708-2023-22-3-199-209","DOIUrl":"https://doi.org/10.24287/1726-1708-2023-22-3-199-209","url":null,"abstract":"Multicolor flow cytometry is now routinely used in laboratory practice for minimal residual disease (MRD) monitoring in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). This article describes the methodology of MRD detection in BCP-ALL using flow cytometry as recommended by the Russian-Belarusian multicenter group for pediatric acute leukemia studies. This wellharmonized approach includes recommendations for the choice of monoclonal antibodies, sample preparation, cytometer setup, flow cytometry data analysis and interpretation as well as for reporting. These guidelines allow application of multicolor flow cytometry for MRD monitoring in BCP-ALL in children and adults both in local laboratories and in multicenter settings in prospective clinical trials.","PeriodicalId":38370,"journal":{"name":"Pediatric Hematology/Oncology and Immunopathology","volume":"204 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135743623","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}

{"title":"Shwachman–Diamond syndrome: a hematologist's view","authors":"I. P. Tesakov, E. A. Deordieva, T. G. Brontveyn, A. N. Sveshnikova","doi":"10.24287/1726-1708-2023-22-3-185-191","DOIUrl":"https://doi.org/10.24287/1726-1708-2023-22-3-185-191","url":null,"abstract":"Shwachman–Diamond syndrome is a rare genetic disorder with an autosomal recessive inheritance pattern. Most often (in more than 90% of cases) this disease is caused by biallelic pathogenic variants in the highly conserved SBDS gene located on the long arm of chromosome 7. However, approximately 10% of patients with the clinical phenotype of Shwachman–Diamond syndrome lack mutations in SBDS but have pathogenic variants in other genes, such as DNAJC21 or EFL1. Shwachman–Diamond syndrome is a multisystemic disorder characterized by exocrine pancreatic insufficiency, protein-energy undernutrition, delayed physical development, cognitive disorders, anomalies of the skeletal system, and immunological disorders. In addition to the described symptoms, Shwachman–Diamond syndrome is characterized by the presence of bone marrow failure (most often neutropenia and anemia), as well as an increased risk of cytogenetic abnormalities and a predisposition to myelodysplastic syndromes and acute myeloid leukemia. In this review, the authors summarize the spectrum of hematological disorders observed in Shwachman–Diamond syndrome, as well as describe the molecular mechanisms underlying them.","PeriodicalId":38370,"journal":{"name":"Pediatric Hematology/Oncology and Immunopathology","volume":"108 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135744158","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}

{"title":"Anthracycline-induced cardiotoxicity in a child with acute lymphoblastic leukaemia against the background of new coronavirus infection","authors":"G. V. Kondratiev, M. E. Melnikov, S. A. Kulyova, A. S. Chepelev, S. L. Bannova, T. L. Kornishina, I. A. Reshetnyak, K. D. Murasheva","doi":"10.24287/1726-1708-2023-22-3-166-176","DOIUrl":"https://doi.org/10.24287/1726-1708-2023-22-3-166-176","url":null,"abstract":"Anthracycline chemotherapy drugs are widely used for the treatment of various tumors but they are associated with high cardiotoxicity. The novel coronavirus disease can also negatively affect the heart function. In this article, we report a case of anthracycline-related cardiotoxicity in a child with refractory acute lymphoblastic leukemia and the novel coronavirus disease, describing changes in instrumental and laboratory parameters observed over time during the treatment and providing a description of autopsy samples of the myocardium. The patient’s parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications.","PeriodicalId":38370,"journal":{"name":"Pediatric Hematology/Oncology and Immunopathology","volume":"29 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135740666","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}

{"title":"The efficacy and toxicity of L-asparaginase in the treatment of acute lymphoblastic leukemia in children","authors":"D. S. Smirnova, T. T. Valiev","doi":"10.24287/1726-1708-2023-22-3-192-198","DOIUrl":"https://doi.org/10.24287/1726-1708-2023-22-3-192-198","url":null,"abstract":"L-asparaginase, an enzyme used as an anticancer drug, was one of the first drugs included in the treatment protocols for acute lymphoblastic leukemia. It has become widely used when an important metabolic feature of leukemia cells – their high demand for asparagine to maintain viability – was discovered. Three L-asparaginase preparations are currently used in clinical practice: native E. coli asparaginase, pegylated E. coli asparaginase (PEG-asparaginase), and native E. chrysanthemi-derived asparaginase, which have different half-lives, immunogenic profiles, and the spectrum and frequency of toxic effects. One of the main factors limiting the use of L-asparaginase is its high immunogenicity which can cause acute allergic reactions and the phenomenon of silent inactivation. The development of the immune response leads to an accelerated asparaginase clearance and a shortening of its half-life. To monitor the effectiveness of therapy with L-asparaginase, therapeutic drug monitoring of serum asparaginase activity can be used. When choosing management strategies for patients experiencing acute hypersensitivity reactions to L-asparaginase, the following factors should be taken into consideration: the severity of reaction, the number of previous exposures to L-asparaginase and serum asparaginase activity. The use of PEG-asparaginase is the best first-line treatment strategy for children acute lymphoblastic leukemia, its advantages include a significant reduction in the risk of developing acute allergic reactions, higher therapeutic efficacy and, as a result, improved treatment outcomes.","PeriodicalId":38370,"journal":{"name":"Pediatric Hematology/Oncology and Immunopathology","volume":"2014 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135740669","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}

{"title":"Velaglucerase alfa for treatment in children with Gaucher disease type 1: the Russian experience","authors":"G. B. Movsisyan, K. V. Savost`yanov, A. A. Pushkov, N. N. Mazanova, J. V. Khazykova, А. I. Firumyants, A. S. Potapov, A. P. Fisenko","doi":"10.24287/1726-1708-2023-22-3-94-102","DOIUrl":"https://doi.org/10.24287/1726-1708-2023-22-3-94-102","url":null,"abstract":"The current gold standard for the treatment of Gaucher disease type 1 in children is enzyme replacement therapy. The efficacy and safety of treatment with velaglucerase alfa have been assessed in only a few large studies involving pediatric patients as subjects of research. In the Russian literature, there are no data available on the use of velaglucerase alfa in drug-naïve patients with Gaucher disease type 1. The aim of our study was to assess the efficacy and safety of treatment with velaglucerase alfa in children with Gaucher disease type 1. The study was approved by the Independent Ethics Committee and the Scientific Council of the National Medical Research Center for Children's Health of Ministry of Healthcare of the Russian Federation. All patients and/or their legal representatives gave their informed consent to the study. The efficacy of treatment with velaglucerase alfa in children with Gaucher disease type 1 was assessed by analyzing monitoring data of 15 patients aged 2 to 15 years who had been registered in the Russian Pediatric Gaucher Registry established at National Medical Research Center for Children's Health of Ministry of Healthcare of Russia over the period from 2015 to 2023. None of the patients had ever undergone enzyme replacement therapy before they were included in this study. The median age at the start of treatment was 6.5 years. We analyzed the patients' anthropometric, laboratory and instrumental data at 0, 6, 12, 24 and 36 months. The initial dose of enzyme replacement therapy ranged from 30 to 60 units/kg (with the median of 43 units/kg per infusion) once every 2 weeks based on disease severity. In as little as 6 months after the initiation of therapy with velaglucerase alfa, patients with Gaucher disease type 1 showed a statistically significant improvement in all measured parameters (p < 0.001): normalization of the median hemoglobin concentration and platelet count (from 113 to 125 g/L and from 111 to 163 × 109/L, respectively); a reduction in degree of liver and spleen enlargement (in terms of volume, from 45.1 to 17.9% and from 39.4 to 15.5%, respectively); a reduction in degree of the right liver lobe enlargement (in terms of linear measurements, from 27.2 to 11.1%); a reduction in degree of spleen enlargement (in terms of its length and width, from 73.4 to 37.8% and from 60.3 to 17.5%, respectively). Our patients had a remarkable decrease in biomarker activity after 3 years of therapy: chitotriosidase activity decreased from 2699 to 227 nmol/mL/h and glucosylsphingosine level was reduced from 204.0 to 35.3 ng/mL (р < 0.001). There were no adverse events during the course of treatment. After 6 months and 1 year of regular enzyme replacement therapy with appropriate doses of velaglucerase alfa initiated in a timely manner, children with Gaucher disease type 1 achieve normal hemoglobin concentrations and platelet counts, a reduction in biomarker activity, and a decrease in liver and spleen volumes. After 3 year","PeriodicalId":38370,"journal":{"name":"Pediatric Hematology/Oncology and Immunopathology","volume":"19 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134934095","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}

{"title":"Using immature platelet fraction as a factor in deciding on the need for platelet transfusions","authors":"M. I. Markelov, S. A. Plyasunova","doi":"10.24287/1726-1708-2023-22-3-88-93","DOIUrl":"https://doi.org/10.24287/1726-1708-2023-22-3-88-93","url":null,"abstract":"Our study aimed to assess the prognostic significance of immature platelet fraction (IPF) and its role in deciding whether to transfuse platelets. The study was approved by the Independent Ethics Committee and the Scientific Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. We monitored this hematologic parameter in 6 patients before and after hematopoietic stem cell transplantation (HSCT). For the study, we used whole blood collected in K EDTA tubes. IPF levels were measured by flow cytometry on the automated hematology analyzer SYSMEX XE-2100 (Sysmex, Kobe, Japan). The presence of platelet antibodies was detected using Capture-P Ready-Screen solid phase system for the detection of antibodies to platelets and the NEO Blood Bank Analyzer by Immucor, Inc. It was shown that the use of IPF enabled an early establishment of platelet engraftment and helped to make more a reasoned decision regarding the transfusion of platelets. It was established that if a rise in IPF &gt; 6% was not accompanied by an increase in platelet count, serum platelet antibody testing was needed. IPF can help diagnose platelet engraftment failure following HSCT and thus eliminate the need for bone marrow aspiration. IPF is of great clinical importance; if adopted as a routine hematologic parameter, it can serve as an additional factor in deciding on the need for platelet transfusions and platelet antibody testing and subsequent personalized selection of platelets.","PeriodicalId":38370,"journal":{"name":"Pediatric Hematology/Oncology and Immunopathology","volume":"53 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134934104","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}

{"title":"A single-center experience of using immunofluorescence staining of blood smears for the diagnosis of hereditary thrombocytopathies","authors":"E. V. Yushkova, N. A. Podoplelova, D. V. Fedorova, A. L. Khoreva, A. Yu. Shcherbina, P. A. Zharkov, M. A. Panteleev","doi":"10.24287/1726-1708-2023-22-3-43-47","DOIUrl":"https://doi.org/10.24287/1726-1708-2023-22-3-43-47","url":null,"abstract":"The method of immunofluorescence staining of blood smears is a recently developed approach to the remote diagnosis of various platelet pathologies including MYH9 disorders/MYH9-related disease, biallelic Bernard–Soulier syndrome, Glanzmann thrombasthenia, gray platelet syndrome, and others. We report here the experience of introducing this method at the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology (Moscow, Russia), which is the main national pediatric hematology hospital that provides diagnosis and therapy to children with blood disorders throughout the country. Our study aimed to transfer this relatively labor-intensive and skill-sensitive method and introduce it into routine laboratory practice, and to perform its validation. The study was approved by the Independent Ethics Committee and the Scientific Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology.","PeriodicalId":38370,"journal":{"name":"Pediatric Hematology/Oncology and Immunopathology","volume":"146 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134934094","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}