Pediatric Hematology/Oncology and Immunopathology最新文献

{"title":"The results of therapy in patients with high-risk neuroblastoma: the experience of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology","authors":"T. Shamanskaya, S. Varfolomeeva, D. Kachanov, R. Moiseenko, M. Teleshova, D. Konovalov, V. Roshchin, A. Kazakova, L. Zemtsova, A. E. Drui, M. Yadgarov, G. Tereshchenko, A. P. Shcherbakov, Y. Likar, M. N. Sukhov, N. S. Grachev, D. Akhaladze, M. Maschan, A. Nechesnyuk, A. V. Pshonkin, E. Kurnikova, E. Skorobogatova, L. Khachatryan, D. K. Fomin, A. Maschan, A. G. Rumyantsev, G. Novichkova","doi":"10.24287/1726-1708-2023-22-2-65-91","DOIUrl":"https://doi.org/10.24287/1726-1708-2023-22-2-65-91","url":null,"abstract":"   Treatment of patients with high-risk neuroblastoma (NB) is a complex challenge, and it is based on response to certain elements of therapy. The development and introduction of new treatment approaches, such as GD2-targeted immunotherapy (IT), leads to improved survival in this cohort of patients.   The aim of the study was to retrospectively assess the effectiveness of therapy in patients with high-risk NB before the introduction of IT into clinical practice.   We retrospectively analyzed the data of 151 NB patients stratified into a high-risk group who had received treatment in accordance with the modified NB2004 protocol of the German Society for Pediatric Oncology and Hematology (GPOH) at the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology from 01.2012 to 12.2017. This study was approved by the Independent Ethics Committee and the Academic Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. All the study subjects (or their legal representatives) signed a voluntary informed consent form indicating their agreement to treatment and use of their data for research purposes. Overall survival (OS), event-free survival (EFS), and risk factors were analyzed in the patients with high-risk NB including those who had completed multimodal therapy with autologous hematopoietic stem cell transplantation and post-consolidation therapy with isotretinoin and had achieved a satisfactory response to induction therapy (complete response (CR), very good partial response (VGPR), partial response (PR)) (population of special interest). The main unfavorable prognostic clinical and molecular genetic factors affecting survival in the high-risk NB patients were older age, MYCN gene amplification, and stage 4 of the disease. The use of the modified GPOH NB2004 protocol resulted in a satisfactory response (CR/VGPR/PR) to the induction therapy in most patients: 124/151 (82.1 %). Surgery (other than primary tumor biopsy) led to improved survival, with no statistical difference between macroscopic radical surgery and macroscopic residual tumor. At the same time, radiation therapy (RT), as the second element of local control, had a significant impact on EFS in the group of the patients with stage 4 disease: the 3-year EFS was 39.4 % (95 % confidence interval (CI) 23.1–55.4) in the patients with RT versus 25.7 % (95 % CI 17.5–34.7) in the patients without RT (p = 0.0295). The introduction of a new high-dose TreoMel chemotherapy regimen did not result in worse survival rates but led to a decrease in transplant-related toxicity. The 5-year OS and 5-year EFS were 49.4 % (95 % CI 40.9–57.3 %) and 33.3 % (95 % CI 25.9–40.9) respectively for all the study subjects, and 81.6 % (95 % CI 70.3–88.9) and 55.1 % (95 % CI 43.1–65.5) respectively for the patients from the population of special interest. The analysis of the results of therapy in the high-risk NB patients who had ","PeriodicalId":38370,"journal":{"name":"Pediatric Hematology/Oncology and Immunopathology","volume":"28 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79049654","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":"An analysis of the efficacy of graft-versus-host disease prophylaxis with post-transplant cyclophosphamide in children with acute myeloid leukemia following allogeneic hematopoietic stem cell transplantation from HLA-matched and partially-matched unrelated donors","authors":"A. Borovkova, O. Paina, P. Kozhokar, Z. Rakhmanova, A. Osipova, L. Tsvetkova, T. Bykova, O. Slesarchuk, I. Moiseev, E. Semenova, A. Kulagin, L. S. Zubarovskaya","doi":"10.24287/1726-1708-2023-22-2-32-43","DOIUrl":"https://doi.org/10.24287/1726-1708-2023-22-2-32-43","url":null,"abstract":"   Acute myeloid leukemia (AML) is the second most common type of leukemia in children and accounts for up to 20 % of all leukemias. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is an effective, and sometimes the only therapeutic option in high-risk patients with AML. Graft-versus-host disease (GVHD) is a major complication of allo-HSCT and the main cause of transplant-related mortality. GVHD prophylaxis in children includes calcineurin inhibitors, either alone or in combination with other immunosuppressants, which can lead to grade II–IV acute GVHD in 40–85 % of cases. Alternatively, GVHD can be prevented with high-dose cyclophosphamide (50 mg/kg/day) administered on days +3, +4 after allo-HSCT, either alone or in combination with other immunosuppressive drugs depending on HLA compatibility of the donor.   The aim of this study was to evaluate outcomes after allo-HSCT from an unrelated donor with GVHD prophylaxis with post-transplant cyclophosphamide (PTC) in children in their first and second remission of AML in comparison with a historical control group.   We retrospectively analyzed patient outcomes after 53 first-time allo-HSCTs from HLA-matched (n = 40) and partially-matched (8–9/10) (n = 13) unrelated donors performed in pediatric patients (aged 0 to 18 years) in their 1st or 2nd remission of AML at the R. M. Gorbacheva Research Institute for Pediatric Oncology, Hematology and Transplantation from 2008 to 2018. The study was approved by the Independent Ethics Committee and the Scientific Council of the I. P. Pavlov First Saint Petersburg State Medical University of Ministry of Healthcare of the Russian Federation. Our group of interest included 26 patients preventively treated for GVHD with 50 mg/kg of cyclophosphamide on days +3 and +4 in combination with calcineurin inhibitors (cyclosporin A – 2 (7.7 %) patients, tacrolimus – 24 (92.3 %) patients), the mTOR inhibitor sirolimus (5 (19.2 %) patients) or mycophenolate mofetil (21 (80.8 %) patients). The historical control group was made up of 27 patients whose GVHD prophylaxis was based on antithymocyte globulin used in combination with calcineurin inhibitors (tacrolimus – 5 (18.5 %) patients, cyclosporin A – 21 (77.8 %) patients) or the mTOR inhibitor sirolimus (1 (3.7 %) patients) or methotrexate (25 (92.6 %) patients), or mycophenolate mofetil (2 (7.4 %) patients). The groups were matched for diagnosis, age, disease status before allo-HSCT, the matched-to-partially-matched donor ratio, the source of hematopoietic stem cells and conditioning regimen intensity (myeloablative conditioning regimen (MAC) or reduced intensity conditioning regimen (RIC)). The median age at the time of allo-HSCT was 8.6 (0.97–18) years in the PTC group and 6.55 (1.42–17.76) years in the historical control group. In the PTC group, 21 (80.8 %) patients were diagnosed with primary AML and 5 (19.2 %) – with secondary AML, while the historical control group included 22 (81.5 %) and 5 (18.5 %) patien","PeriodicalId":38370,"journal":{"name":"Pediatric Hematology/Oncology and Immunopathology","volume":"5 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81764300","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 role of plerixafor in conditioning regimens before unmanipulated bone marrow transplantation in patients with Wiscott–Aldrich syndrome","authors":"D. N. Balashov, A. Laberko, E. Sultanova, A. Idarmacheva, S. Radygina, Y. Skvortsova, S. Kozlovskaya, M. Maschan","doi":"10.24287/1726-1708-2023-22-2-12-15","DOIUrl":"https://doi.org/10.24287/1726-1708-2023-22-2-12-15","url":null,"abstract":"   Our previous experience of using plerixafor and granulocyte colony stimulating factor (G-CSF) in addition to treosulfan-based conditioning in patients with Wiscott–Aldrich syndrome (WAS) demonstrated efficacy and a decreased risk of severe graft failure after hematopoietic stem cell transplantation (HSCT) with TCRab + /CD19 + graft depletion. Because of the remaining risk of graft failure in WAS patients following HSCT with unmanipulated grafts reported in a number of large-scale retrospective studies, we used plerixafor and G-CSF in conditioning regimens in 6 WAS patients who received native bone marrow as a graft source. None of the patients developed severe organ toxicity in the early post-transplantation period. All of them had long-term full donor chimerism in whole blood and the CD3 + line and a good graft function. At the last follow-up, 5 patients are alive at 3.7 to 74.7 months after HSCT (median follow-up time: 24.0 months). One patient died of chronic lung graft-versus-host-disease at 18 months after the transplantation. Despite limited experience, we believe that additional hematopoietic stem cell mobilization with plerixafor and G-CSF in treosulfan-based conditioning regimens may be effective in WAS patients undergoing HSCT with an unmanipulated graft. 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. Key words: plerixafor, conditioning regimen, hematopoietic stem cell transplantation, Wiscott–Aldrich syndrome, unmanipulated graft","PeriodicalId":38370,"journal":{"name":"Pediatric Hematology/Oncology and Immunopathology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83930625","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":"Extramedullary involvement in pediatric myeloid leukemia: challenges of diagnosis and treatment. Clinical cases and a literature review","authors":"Y. Dinikina, A. Maschan","doi":"10.24287/1726-1708-2023-22-2-123-141","DOIUrl":"https://doi.org/10.24287/1726-1708-2023-22-2-123-141","url":null,"abstract":"   The problem of extramedullary (EM) involvement in acute myeloid leukemia (AML) in children is of considerable relevance since its pathogenesis remains understudied and the impact on prognosis is still unclear. The variability of tissue and organ involvement depends on immunophenotypic, cytogenetic, and molecular features of myeloid cells and can cause difficulties in diagnosis, thus making it necessary to combine imaging and laboratory tools for timely and accurate diagnosis of EM disease. The prognostic significance of EM involvement has not been established unequivocally, thus the need for intensification of chemotherapy, as well as for allogeneic hematopoietic stem cell transplantation in first remission, remain debatable. The results of target therapy in EM AML are encouraging and may reduce the risk of AML relapse. This article describes the clinical features of EM AML in children and reviews the diagnostic approaches as well as the advantages and limitations of existing laboratory and imaging methods. The molecular features of EM AML, current treatment options and prognosis have also been analyzed. The patients' parents gave their consent to the use of their children's data, including photographs, for research purposes and in publications.","PeriodicalId":38370,"journal":{"name":"Pediatric Hematology/Oncology and Immunopathology","volume":"30 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82706929","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 case report of mast cell leukemia in a child and literature review","authors":"E. Boychenko","doi":"10.24287/1726-1708-2023-22-1-126-138","DOIUrl":"https://doi.org/10.24287/1726-1708-2023-22-1-126-138","url":null,"abstract":"Mast cell leukemia (MCL) is a very rare form of aggressive systemic mastocytosis accounting for < 1% of all mastocytosis. Mastocytosis is a broad term used for a group of clonal disorders characterized by accumulation of mast cells in the skin with or without extracutaneous involvement. The clinical spectrum of the disease varies from only cutaneous lesions to highly aggressive systemic involvement such as MCL. Mastocytosis can present from birth to adulthood. In children, mastocytosis is usually benign, and there is a good chance of spontaneous regression at puberty, unlike adult-onset disease, which is generally systemic and more severe. Individuals with systemic mastocytosis may be at risk of developing hematologic malignancies. MCL diagnosis requires the presence of SM criteria with additional features including leukemic infiltration of bone marrow and/or blood by at least 20% high-grade MC as well as the infiltration of extracutaneous organs by neoplastic MC. Genetic aberrations, mainly the KIT D816V mutation, play a crucial role in the pathogenesis of mastocytosis and are detected in most patients. To date, there is no approved standard therapy. For MCL, few options are available for treatment and because of the rarity of the disease very few clinical trials address the question. Even if SM occurs occasionally, all children with mastocytosis require planned follow-up over time. We present an overview of literature on MCL and a rare case of MCL diagnosed in a 4-year-old girl who had had cutaneous mastocytosis since early childhood. A bone marrow examination revealed MCL. She ultimately died despite chemotherapy. The patient's parents gave 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":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82905671","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 prognostic significance of cytokine receptor-like factor 2 expression and JAK2 mutation in pediatric B-cell acute lymphoblastic leukemia: A prospective cohort study","authors":"M. Abd El Monem, R. El Ashry, M. Bassiouny, S. Aref, S. Abd El Mabood","doi":"10.24287/1726-1708-2023-22-1-40-45","DOIUrl":"https://doi.org/10.24287/1726-1708-2023-22-1-40-45","url":null,"abstract":"Acute lymphoblastic leukemia (ALL) is the most common pediatric malignancy. Philadelphia (Ph)-like B-cell acute lymphoblastic leukemia (B-ALL) is defined by a gene expression profile similar to Phpositive B-ALL and shows a large number of genetic alterations in the cytokine receptor and kinasesignaling pathway genes that contribute to its aggressive phenotype and frequent disease recurrence – the main cause of death in affected children. Here, we aimed to correlate CRLF2 expression and JAK2 mutations in B-ALL patients with other prognostic factors and the patients’ outcomes as well as to evaluate their prognostic significance. The study was approved by the local institutional review board and written consents were obtained from a parent of each child before their enrolment. We included 54 newly diagnosed B-ALL pediatric patients (median age: 9.0 (2.0–18.0)) who were stratified either into a standard-risk (SR) or high-risk (HR) group and treated according to the modified BerlinFrankfurt-Münster 90 protocol (ALL-BFM 90). Fresh bone marrow samples were used to determine CRLF2 expression as well as to search for the JAK2 V617F mutation. Normal CRLF2 expression was reported in the SR patients much more often than in the HR group, while its overexpression was more common in the HR patients than in the SR ones (22 vs 6 and 18 vs 8, respectively, p < 0.001). CRLF2 was also more often overexpressed in the MRD-positive cases than in the negative ones (17 vs 9, p < 0.001), while normal CRLF2 expression was more common in the MRD-negative patients compared to the MRD-positive ones (24 vs 4, p < 0.001) which supports the unfavorable prognostic value of CRLF2 in relation to MRD positivity at the end of the induction treatment. JAK2 mutation was detected only in 2 patients belonging to the CRLF2 overexpression group which made the assessment of the prognostic significance of this mutation impossible. Notably, none of the patients with normal CRLF2 expression ended up relapsing while 4 patients with overexpressed CRLF2 developed a relapse (p = 0.031). The study subjects were followed up for up to 24 months, and we did not find CRLF2 overexpression to negatively influence overall survival, however, it did have an adverse effect on relapse-free survival. In summary, CRLF2 overexpression was found to be an unfavorable prognostic factor in childhood ALL as it was expressed more in high-risk patients and in those with poor treatment response. The analysis of CRLF2 expression in B-ALL pediatric patients may help in risk stratification and can potentially offer new treatment options based on novel CRLF2 inhibitors.","PeriodicalId":38370,"journal":{"name":"Pediatric Hematology/Oncology and Immunopathology","volume":"25 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80178892","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":"Treatment of lymphoid malignancies in patients with primary immunodeficiencies associated with DNA repair defects","authors":"L. K. Anderzhanova, Y. Rodina, A. Mukhina, Y. Abugova, D. Abramov, M. Aleksenko, L. A. Vavilova, Y. Y. Dyakonova, D. Evstratov, E. Raykina, V. Fominykh, A. Shcherbina, E. Deripapa, N. Myakova","doi":"10.24287/1726-1708-2023-22-1-53-61","DOIUrl":"https://doi.org/10.24287/1726-1708-2023-22-1-53-61","url":null,"abstract":"Nijmegen breakage syndrome (NBS) and ataxia-telangiectasia (AT; Louis–Bar syndrome) are primary immunodeficiencies (PID) associated with chromosome instability and DNA repair defects that predispose individuals to an increased risk of various malignancies. In our study, we retrospectively analyzed clinical characteristics and outcomes of 28 cancer cases in 14 patients with AT and 10 patients with NBS who had been treated at the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology between January 2007 and December 2022. 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. The most common type of malignancy was mature B-cell non-Hodgkin lymphoma (B-NHL) (42%), with diffuse large B-cell lymphoma (DLBCL) accounting for 91% of all B-NHL cases. Other cases included T-cell acute lymphoblastic leukemia (ALL) (n = 3), B-cell ALL (n = 2), Hodgkin lymphoma (n = 3), NK/T-cell lymphoma (n = 1), T-cell lymphoblastic lymphoma (n = 1), peripheral T- cell lymphoma (n = 2), medulloblastoma (n = 1) epithelioid rhabdomyosarcoma (n = 1), T-cell prolymphocytic leukemia (n = 2). A total of 4 patients were diagnosed with second malignancies (2 children with AT and 2 children with NBS. The diagnosis of PID was suspected or confirmed before the initiation of cancer therapy in 62% of AT patients and in 100% of NBS patients. Treatment was given in accordance with standard protocols with chemotherapy dose modifications. A total of 93% of patients with AT and 80% of patients with NBS required dose reduction. The level of response was quite high: 81% of patients with AT and 58% of patients with NBS achieved complete remission. According to our data, the use of reduced-dose chemotherapy regimens helps to achieve an acceptable toxicity profile without reducing the overall effectiveness of treatment.","PeriodicalId":38370,"journal":{"name":"Pediatric Hematology/Oncology and Immunopathology","volume":"120 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73460257","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 assessment of the efficacy and safety of the personalized rehabilitation of the second stage using modern methods and technologies in children with primary immunodeficiencies","authors":"E. K. Mgdsyan, Y. Rodina, A. B. Abrosimov, E. Zhukovskaya, A. F. Karelin, A. Shcherbina, G. Novichkova","doi":"10.24287/1726-1708-2023-22-1-90-98","DOIUrl":"https://doi.org/10.24287/1726-1708-2023-22-1-90-98","url":null,"abstract":"Primary immunodeficiencies (PID) are genetically determined defects of the immune system. Despite significant advances in diagnosis and treatment of this group of disorders, personalized rehabilitation therapy aimed at improving the quality of a patient’s life (QOL) is not standardized. Our study of the rehabilitation effectiveness in a group of PID patients (n = 78; 59 boys and 19 girls), treated at the Russkoe Pole Rehabilitation Center, demonstrated significant improvement of the QOL in all aspects. The total QOL scale score increased from 66.13 to 74.89 points according to a child form and from 65.37 to 70.86 points according to a parent form. The greatest improvement in the QOL was achieved in children under 12 years of age, with an increase in the total scale score from 63.22 to 74.95 points (child form), and from 63.24 to 71.34 points (parent form). Therefore, personalized rehabilitation therapy can improve the QOL of patients with PID and can be applied in various rehabilitation centers. 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 of Ministry of Healthcare of the Russian Federation.","PeriodicalId":38370,"journal":{"name":"Pediatric Hematology/Oncology and Immunopathology","volume":"88 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83819120","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":"Secondary Fisher–Evans syndrome in a child with activated PI(3)kd syndrome and lymphoma","authors":"Z. Kuzminova, V. Fominykh, N. Kotskaya, K. Mitrakov, A. Moiseeva, O. Shvets, A. Livshits, M. Kurnikova","doi":"10.24287/1726-1708-2023-22-1-152-155","DOIUrl":"https://doi.org/10.24287/1726-1708-2023-22-1-152-155","url":null,"abstract":"Evans syndrome, a combination of autoimmune hemolytic anemia and immune thrombocytopenia, is a rare disease in children. In childhood, it may turn out to be one of the first manifestations of a primary immunodeficiency or an immune dysregulation syndrome. Here we present a clinical case of a patient who was initially diagnosed with Evans syndrome and did not respond well to therapy. Based on the results of genetic testing, the child was then diagnosed with primary immunodeficiency, namely, activated PI(3)kd syndrome. During follow-up, the patient developed lymphoma and had to undergo radical treatment (allogeneic hematopoietic stem cell transplantation). The patient's parents gave 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":"92 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76799005","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":"Heart failure as a manifestation of acute lymphoblastic leukemia","authors":"L. K. Anderzhanova, N. Rybalko, M. Shatsky, E. Tikhomirova, N. Myakova","doi":"10.24287/1726-1708-2023-22-1-147-151","DOIUrl":"https://doi.org/10.24287/1726-1708-2023-22-1-147-151","url":null,"abstract":"Clinically significant myocardial infiltration by blast cells is a rare occurrence in acute leukemia. Heart failure rate in children with hemato-oncological diseases is unknown. Here we report a clinical case of an 8-year-old female patient with B-cell acute lymphoblastic leukemia as well as heart failure that resolved during specific therapy for the cancer. The patient's parents gave 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":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73323568","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}